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Pathology - Haemophilia
Definition • An inherited predisposition to bleeding resulting from a deficiency of either factor VIII (haemophilia A) or factor IX (haemophilia B).
Epidemiology Haemophilia A manifests in around 1 in 5,000 to 10,000 male births. Haemophilia B is rarer, with an incidence of about 1 in 20,000 to 30,000 male births. Genetics • The genes for factor VIII and factor IX are situated on the X chromosome, resulting in haemophilia exhibiting sex-linked inheritance, mostly affecting males. • A multitude of mutations have been documented, resulting in significant variability in the severity of haemophilia.
Pathogenesis Factors VIII and IX collectively constitute the factor VIII-factor IX complex, which activates factor X in the coagulation cascade. The absence of these factors hinders coagulation.
Presentation: • Susceptibility to bruising and significant hemorrhage following trauma or surgical procedures. • Spontaneous hemorrhages into major weight-bearing joints, including the knee, elbow, and ankles (hemarthroses), are prevalent. Coagulation assays • Both types of haemophilia result in an extended APTT and a normal PT. • The two can only be differentiated by assessing the levels of each factor.
Prognosis: The primary treatment intervention is the replacement of the deficient component. • Factor concentrates are aggregated from numerous donors and present a significantly elevated risk of infection transmission. • While rigorous donor screening and viral inactivation processes mitigate this danger, there is a trend towards the adoption of synthetic factors.
Definition • An inherited predisposition to bleeding resulting from a deficiency of either factor VIII (haemophilia A) or factor IX (haemophilia B).
Epidemiology Haemophilia A manifests in around 1 in 5,000 to 10,000 male births. Haemophilia B is rarer, with an incidence of about 1 in 20,000 to 30,000 male births. Genetics • The genes for factor VIII and factor IX are situated on the X chromosome, resulting in haemophilia exhibiting sex-linked inheritance, mostly affecting males. • A multitude of mutations have been documented, resulting in significant variability in the severity of haemophilia.
Pathogenesis Factors VIII and IX collectively constitute the factor VIII-factor IX complex, which activates factor X in the coagulation cascade. The absence of these factors hinders coagulation.
Presentation: • Susceptibility to bruising and significant hemorrhage following trauma or surgical procedures. • Spontaneous hemorrhages into major weight-bearing joints, including the knee, elbow, and ankles (hemarthroses), are prevalent. Coagulation assays • Both types of haemophilia result in an extended APTT and a normal PT. • The two can only be differentiated by assessing the levels of each factor.
Prognosis: The primary treatment intervention is the replacement of the deficient component. • Factor concentrates are aggregated from numerous donors and present a significantly elevated risk of infection transmission. • While rigorous donor screening and viral inactivation processes mitigate this danger, there is a trend towards the adoption of synthetic factors.
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Pathology - Proliferative breast diseases
Definition: A heterogeneous collection of intraductal proliferative lesions of the breast linked to a variable risk for the later emergence of invasive breast cancer. Epidemiology • Extremely prevalent. • Incidence has increased following the implementation of breast screening programs.
Aetiology • Comparable to invasive breast carcinoma (see p. 226). Genetics • The majority of instances of flat epithelial atypia and in situ lobular neoplasia exhibit genetic anomalies, particularly the loss of heterozygosity on chromosome 16p. A fraction of typical epithelial hyperplasia instances exhibit genetic abnormalities.
Macroscopy: The majority are detected through screening mammography or accidentally during the excision of breast tissue for other purposes. Histopathology • Usual epithelial hyperplasia is characterized by a disorganized proliferation of juvenile ductal epithelial cells that create slit-like spaces. • Flat epithelial atypia involves a consistent proliferation of moderately atypical ductal epithelial cells, not exceeding five cells in thickness. This is considered the earliest morphological precursor of low-grade ductal carcinoma in situ. In situ lobular neoplasia is characterized by a proliferation of tiny, weakly cohesive epithelial cells, marked by the loss of E-cadherin expression as determined immunohistochemically.
Prognosis • Typical epithelial hyperplasia is not regarded as a direct precursor lesion for invasive breast carcinoma; however, it serves as an indicator of a modestly elevated risk (relative risk of 1.5–2.0) for subsequent invasive carcinoma. • Currently, there is no quantitative data regarding the relative risk for the future development of invasive breast carcinoma in patients with flat epithelial atypia.
Recent genetic findings indicate that flat epithelial atypia may serve as the initial morphological precursor to low-grade ductal carcinoma in situ. Current research indicates that in situ lobular neoplasia poses a risk for eventual invasive breast carcinoma in either breast in a minority of women. The relative risk is reported to be between 7 and 12 times greater than that anticipated in women devoid of lobular neoplasia.
Definition: A heterogeneous collection of intraductal proliferative lesions of the breast linked to a variable risk for the later emergence of invasive breast cancer. Epidemiology • Extremely prevalent. • Incidence has increased following the implementation of breast screening programs.
Aetiology • Comparable to invasive breast carcinoma (see p. 226). Genetics • The majority of instances of flat epithelial atypia and in situ lobular neoplasia exhibit genetic anomalies, particularly the loss of heterozygosity on chromosome 16p. A fraction of typical epithelial hyperplasia instances exhibit genetic abnormalities.
Macroscopy: The majority are detected through screening mammography or accidentally during the excision of breast tissue for other purposes. Histopathology • Usual epithelial hyperplasia is characterized by a disorganized proliferation of juvenile ductal epithelial cells that create slit-like spaces. • Flat epithelial atypia involves a consistent proliferation of moderately atypical ductal epithelial cells, not exceeding five cells in thickness. This is considered the earliest morphological precursor of low-grade ductal carcinoma in situ. In situ lobular neoplasia is characterized by a proliferation of tiny, weakly cohesive epithelial cells, marked by the loss of E-cadherin expression as determined immunohistochemically.
Prognosis • Typical epithelial hyperplasia is not regarded as a direct precursor lesion for invasive breast carcinoma; however, it serves as an indicator of a modestly elevated risk (relative risk of 1.5–2.0) for subsequent invasive carcinoma. • Currently, there is no quantitative data regarding the relative risk for the future development of invasive breast carcinoma in patients with flat epithelial atypia.
Recent genetic findings indicate that flat epithelial atypia may serve as the initial morphological precursor to low-grade ductal carcinoma in situ. Current research indicates that in situ lobular neoplasia poses a risk for eventual invasive breast carcinoma in either breast in a minority of women. The relative risk is reported to be between 7 and 12 times greater than that anticipated in women devoid of lobular neoplasia.
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Pathology - Ductal carcinoma in situ
Definition: Neoplastic intraductal epithelial proliferation in the breast, possessing an inherent but not guaranteed risk of development to invasive breast cancer.
Epidemiology
• Prevalent. • The incidence has significantly risen following the implementation of breast screening programs. Aetiology: Risks analogous to invasive breast carcinoma
Genetics • Low-grade ductal carcinoma in situ (DCIS) frequently exhibits loss of homozygosity at 16p. High-grade DCIS has genetic distinctiveness characterized by a more intricate karyotype.
Presentation: 85% are identified on mammography as regions of microcalcification. • Ten percent exhibit clinical manifestations include a lump, nipple discharge, or eczematous alterations of the nipple (Paget's disease of the nipple). • Five percent are detected inadvertently in breast specimens excised for alternative purposes.
Macroscopy :DCIS is frequently macroscopically imperceptible, even to a seasoned pathologist. Extensive high-grade DCIS may present as gritty yellow flecks resulting from calcified necrotic debris within the affected ducts.
Histopathology: DCIS is categorized into low, middle, and high nuclear grades. Low-grade DCIS is characterized by small, uniform cells exhibiting cribriform, solid, or micropapillary patterns, with pronounced cellular polarization, wherein the nuclei are basally located and the apical cytoplasm is oriented towards the duct lumen. Central necrosis within the duct is unusual. Intermediate-grade DCIS exhibits cells characterized by moderately large nuclei and coarse chromatin, proliferating in solid, cribriform, or micropapillary architectures with a moderate level of cellular polarization. Central necrosis may be observed. High-grade DCIS exhibits cells characterized by big, significantly pleomorphic nuclei, clumped chromatin, conspicuous nucleoli, and diminished cellular polarization. Central necrosis is prevalent.
Prognosis: Complete surgical excision with clear margins is curative. The prognosis is contingent upon the persistence of malignant cells following treatment. Recurrence is more probable in cases of severe illness, elevated nuclear grade, and the existence of comedo necrosis.
Definition: Neoplastic intraductal epithelial proliferation in the breast, possessing an inherent but not guaranteed risk of development to invasive breast cancer.
Epidemiology
• Prevalent. • The incidence has significantly risen following the implementation of breast screening programs. Aetiology: Risks analogous to invasive breast carcinoma
Genetics • Low-grade ductal carcinoma in situ (DCIS) frequently exhibits loss of homozygosity at 16p. High-grade DCIS has genetic distinctiveness characterized by a more intricate karyotype.
Presentation: 85% are identified on mammography as regions of microcalcification. • Ten percent exhibit clinical manifestations include a lump, nipple discharge, or eczematous alterations of the nipple (Paget's disease of the nipple). • Five percent are detected inadvertently in breast specimens excised for alternative purposes.
Macroscopy :DCIS is frequently macroscopically imperceptible, even to a seasoned pathologist. Extensive high-grade DCIS may present as gritty yellow flecks resulting from calcified necrotic debris within the affected ducts.
Histopathology: DCIS is categorized into low, middle, and high nuclear grades. Low-grade DCIS is characterized by small, uniform cells exhibiting cribriform, solid, or micropapillary patterns, with pronounced cellular polarization, wherein the nuclei are basally located and the apical cytoplasm is oriented towards the duct lumen. Central necrosis within the duct is unusual. Intermediate-grade DCIS exhibits cells characterized by moderately large nuclei and coarse chromatin, proliferating in solid, cribriform, or micropapillary architectures with a moderate level of cellular polarization. Central necrosis may be observed. High-grade DCIS exhibits cells characterized by big, significantly pleomorphic nuclei, clumped chromatin, conspicuous nucleoli, and diminished cellular polarization. Central necrosis is prevalent.
Prognosis: Complete surgical excision with clear margins is curative. The prognosis is contingent upon the persistence of malignant cells following treatment. Recurrence is more probable in cases of severe illness, elevated nuclear grade, and the existence of comedo necrosis.
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Pathology - Invasive breast carcinomas
Definition: A collection of malignant epithelial tumors that infiltrate the breast and possess the ability to metastasize to distant locations. Epidemiology: The predominant cancer among women, with a lifetime risk of 1 in 8. • Incidence rates escalate significantly with advancing age, resulting in the majority of cases occurring in elderly women.
Aetiology: Early menarche, late menopause, elevated weight, excessive alcohol intake, oral contraceptive usage, and a favorable familial history are all correlated with an increased risk. Approximately 5% exhibit unequivocal indications of heredity. BRCA mutations confer a lifetime risk of invasive breast cancer of up to 85%.
Carcinogenesis • Recent genetic research has proposed that the evolution of breast cancer can be generally categorized into two types. The low-grade group, including low-grade invasive ductal carcinoma, classical lobular carcinoma, mucinous carcinoma, and tubular cancer, expresses hormone receptors, does not overexpress HER2, and lacks basal indicators. Genetically, they possess uncomplicated diploid or nearly diploid karyotypes and are characterized by the deletion of 16q and the amplification of 1q. The high-grade category (e.g., high-grade invasive ductal carcinoma, basal-like cancer) often lacks hormone receptors, overexpresses HER2, and exhibits basal signs. They possess intricate karyotypes characterized by several imbalanced chromosomal abnormalities. Common alterations encompass the deletion of 1p, 8p, and 17p, alongside the amplification of 1q and 8q.
Presentation • The majority of cases manifest symptomatically as a breast lump. • A growing percentage of asymptomatic cases are identified through screening mammography. Macroscopy Most breast carcinomas generate a solid stellate tumor within the breast. Cytopathology Fine needle aspiration (FNA) samples from breast carcinomas are generally characterized by high cellularity, comprising a poorly coherent assemblage of malignant epithelial cells.
Background: Bare bipolar nuclei are nonexistent. Histopathology Invasive ductal carcinomas, comprising 80%, are infiltrating carcinomas that lack distinctive features necessary for classification as specific histological types, such as lobular or tubular carcinoma; thus, they are often designated as 'no special kind.' Consequently, they constitute a heterogeneous array of tumors rather than a singular variety. In the future, this group is expected to be subdivided into more significant entities based on their genetic profiles.
Invasive lobular carcinomas (15%) consist of tiny, poorly cohesive cells with little cytoplasm, which typically proliferate in linear cords and wrap existing normal ducts.
Tubular carcinomas (5%) consist of well-organized tubular formations bordered by a single layer of epithelial cells exhibiting low-grade atypia.
Mucinous carcinomas (5%) are distinguished by the extensive synthesis of mucin in which the tumor cells are suspended. Basal-like carcinomas constitute a recently identified category of tumors revealed through the genetic profiling of several breast carcinomas. They frequently manifest in young women and are associated with BRCA mutations.
Morphologically, they generally exhibit sheets of markedly abnormal epithelial cells accompanied by a significant lymphocytic inflammatory infiltrate and central necrosis. Immunohistochemically, they are distinguished by the expression of basal-type keratins, such as cytokeratins 5 and 14. Basal-like tumors are often negative for estrogen receptors (ER) and progesterone receptors (PR), and are not amplified for Her2, hence classified as 'triple negative' tumors. These tumors exhibit a tendency for visceral metastasis, particularly to the lungs and brain.
Grading • All invasive breast tumors are histologically graded by evaluating nuclear pleomorphism, tubule development, and mitotic activity. Each attribute is evaluated on a scale from 1 to 3, and the cumulative scores yield a total ranging from 3 to 9. • 3–5 points represent grade 1 (well-differentiated). • 6–7 points = grade 2 (moderately differentiated). • 8–9 points = grade 3 (insufficiently differentiated). The primary prognostic determinant is the condition of the axillary lymph nodes. Additional significant criteria encompass tumor size, histology type, and histological grade.
Simplifi ed TNM 7 pathological staging of breast
carcinomas
Primary tumour (T)
pT1: tumour 2cm or less in size.
pT2: tumour > 2cm, but not > 5cm in size.
pT3: tumour > 5cm in size.
pT4: tumour of any size with extension to the chest wall and/or skin.
Regional lymph nodes (N)
pN0: no regional lymph node metastasis.
pN1: metastasis in 1–3 ipsilateral axillary lymph nodes.
pN2: metastasis in 4–9 ipsilateral axillary lymph nodes.
pN3: metastasis in 10 or more ipsilateral axillary lymph nod
Definition: A collection of malignant epithelial tumors that infiltrate the breast and possess the ability to metastasize to distant locations. Epidemiology: The predominant cancer among women, with a lifetime risk of 1 in 8. • Incidence rates escalate significantly with advancing age, resulting in the majority of cases occurring in elderly women.
Aetiology: Early menarche, late menopause, elevated weight, excessive alcohol intake, oral contraceptive usage, and a favorable familial history are all correlated with an increased risk. Approximately 5% exhibit unequivocal indications of heredity. BRCA mutations confer a lifetime risk of invasive breast cancer of up to 85%.
Carcinogenesis • Recent genetic research has proposed that the evolution of breast cancer can be generally categorized into two types. The low-grade group, including low-grade invasive ductal carcinoma, classical lobular carcinoma, mucinous carcinoma, and tubular cancer, expresses hormone receptors, does not overexpress HER2, and lacks basal indicators. Genetically, they possess uncomplicated diploid or nearly diploid karyotypes and are characterized by the deletion of 16q and the amplification of 1q. The high-grade category (e.g., high-grade invasive ductal carcinoma, basal-like cancer) often lacks hormone receptors, overexpresses HER2, and exhibits basal signs. They possess intricate karyotypes characterized by several imbalanced chromosomal abnormalities. Common alterations encompass the deletion of 1p, 8p, and 17p, alongside the amplification of 1q and 8q.
Presentation • The majority of cases manifest symptomatically as a breast lump. • A growing percentage of asymptomatic cases are identified through screening mammography. Macroscopy Most breast carcinomas generate a solid stellate tumor within the breast. Cytopathology Fine needle aspiration (FNA) samples from breast carcinomas are generally characterized by high cellularity, comprising a poorly coherent assemblage of malignant epithelial cells.
Background: Bare bipolar nuclei are nonexistent. Histopathology Invasive ductal carcinomas, comprising 80%, are infiltrating carcinomas that lack distinctive features necessary for classification as specific histological types, such as lobular or tubular carcinoma; thus, they are often designated as 'no special kind.' Consequently, they constitute a heterogeneous array of tumors rather than a singular variety. In the future, this group is expected to be subdivided into more significant entities based on their genetic profiles.
Invasive lobular carcinomas (15%) consist of tiny, poorly cohesive cells with little cytoplasm, which typically proliferate in linear cords and wrap existing normal ducts.
Tubular carcinomas (5%) consist of well-organized tubular formations bordered by a single layer of epithelial cells exhibiting low-grade atypia.
Mucinous carcinomas (5%) are distinguished by the extensive synthesis of mucin in which the tumor cells are suspended. Basal-like carcinomas constitute a recently identified category of tumors revealed through the genetic profiling of several breast carcinomas. They frequently manifest in young women and are associated with BRCA mutations.
Morphologically, they generally exhibit sheets of markedly abnormal epithelial cells accompanied by a significant lymphocytic inflammatory infiltrate and central necrosis. Immunohistochemically, they are distinguished by the expression of basal-type keratins, such as cytokeratins 5 and 14. Basal-like tumors are often negative for estrogen receptors (ER) and progesterone receptors (PR), and are not amplified for Her2, hence classified as 'triple negative' tumors. These tumors exhibit a tendency for visceral metastasis, particularly to the lungs and brain.
Grading • All invasive breast tumors are histologically graded by evaluating nuclear pleomorphism, tubule development, and mitotic activity. Each attribute is evaluated on a scale from 1 to 3, and the cumulative scores yield a total ranging from 3 to 9. • 3–5 points represent grade 1 (well-differentiated). • 6–7 points = grade 2 (moderately differentiated). • 8–9 points = grade 3 (insufficiently differentiated). The primary prognostic determinant is the condition of the axillary lymph nodes. Additional significant criteria encompass tumor size, histology type, and histological grade.
Simplifi ed TNM 7 pathological staging of breast
carcinomas
Primary tumour (T)
pT1: tumour 2cm or less in size.
pT2: tumour > 2cm, but not > 5cm in size.
pT3: tumour > 5cm in size.
pT4: tumour of any size with extension to the chest wall and/or skin.
Regional lymph nodes (N)
pN0: no regional lymph node metastasis.
pN1: metastasis in 1–3 ipsilateral axillary lymph nodes.
pN2: metastasis in 4–9 ipsilateral axillary lymph nodes.
pN3: metastasis in 10 or more ipsilateral axillary lymph nod
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Pathology - Pathologies of the male breast
Gynecomastia • Pertains to the hypertrophy of male breast tissue. • Typically observed in adolescent males throughout puberty and in adults over the age of 50. Most instances are either idiopathic or linked to pharmacological substances (both medicinal and recreational).
Histologically, the breast ducts have epithelial hyperplasia characterized by characteristic finger-like extensions reaching into the duct lumen. The periductal stroma is frequently cellular and edematous. The disease is benign, presenting no elevated risk of cancer. Breast cancer in males Carcinoma of the male breast is uncommon, constituting 0.2% of all malignancies. The median age at diagnosis is 65 years
. • The majority of patients exhibit a discernible mass. The tumors are predominantly firm, irregular lumps. The tumors exhibit histological characteristics akin to those of female breast cancers.
Gynecomastia • Pertains to the hypertrophy of male breast tissue. • Typically observed in adolescent males throughout puberty and in adults over the age of 50. Most instances are either idiopathic or linked to pharmacological substances (both medicinal and recreational).
Histologically, the breast ducts have epithelial hyperplasia characterized by characteristic finger-like extensions reaching into the duct lumen. The periductal stroma is frequently cellular and edematous. The disease is benign, presenting no elevated risk of cancer. Breast cancer in males Carcinoma of the male breast is uncommon, constituting 0.2% of all malignancies. The median age at diagnosis is 65 years
. • The majority of patients exhibit a discernible mass. The tumors are predominantly firm, irregular lumps. The tumors exhibit histological characteristics akin to those of female breast cancers.
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Pathology – Breast Screening
The objective of screening is to detect DCIS or early invasive cancer. NHS mammography screening initiative Women between the ages of 50 and 70 are invited for screening every three years. • By 2012, this will encompass women aged 47 to 73. The screening test is a mammography that detects abnormal calcifications or masses in the breast. Evaluation clinic Approximately 5% of women exhibit abnormal mammography results and are subsequently sent to an assessment center for additional evaluation. • This may need further mammograms or an ultrasound, succeeded by sample of the anomalous region, typically via core biopsy.
Histopathology
Core biopsies obtained from breast screening patients are assigned a B code ranging from 1 to 5. B1 denotes normal breast tissue. This typically indicates that the biopsy overlooked the region of interest. B2 is a core exhibiting a benign anomaly. This is suitable for several lesions, including fibromas, fibrocystic changes, sclerosing adenosis, and fat necrosis. B3 is a lesion with indeterminate malignant potential. This category mostly comprises lesions that may be benign at their core but exhibit heterogeneity or possess a slightly elevated risk of a nearby malignancy. This is suitable for cores exhibiting flat epithelial atypia, in situ lobular neoplasia, atypical ductal hyperplasia, partially sampled papillomas, phyllodes tumors, and radial scars. B4 is a core exhibiting characteristics indicative of malignancy; nonetheless, a definitive diagnosis is unattainable due to factors such as inadequate aberrant tissue or compression of the biopsy. B5 is a core biopsy exhibiting definitive characteristics of malignancy. This is categorized either B5a for ductal carcinoma in situ (DCIS) or B5b for invasive cancer.
Administration • B1: rebiopsy. • B2: provide reassurance and revert to standard recollection. • B3: resection of the anomalous region. • B4: rebiopsy or excision of the anomalous region. • B5: surgical resection via extensive local excision or mastectomy. Efficacy • According to published statistics, the NHS breast screening program saves approximately 1,250 lives annually.
The objective of screening is to detect DCIS or early invasive cancer. NHS mammography screening initiative Women between the ages of 50 and 70 are invited for screening every three years. • By 2012, this will encompass women aged 47 to 73. The screening test is a mammography that detects abnormal calcifications or masses in the breast. Evaluation clinic Approximately 5% of women exhibit abnormal mammography results and are subsequently sent to an assessment center for additional evaluation. • This may need further mammograms or an ultrasound, succeeded by sample of the anomalous region, typically via core biopsy.
Histopathology
Core biopsies obtained from breast screening patients are assigned a B code ranging from 1 to 5. B1 denotes normal breast tissue. This typically indicates that the biopsy overlooked the region of interest. B2 is a core exhibiting a benign anomaly. This is suitable for several lesions, including fibromas, fibrocystic changes, sclerosing adenosis, and fat necrosis. B3 is a lesion with indeterminate malignant potential. This category mostly comprises lesions that may be benign at their core but exhibit heterogeneity or possess a slightly elevated risk of a nearby malignancy. This is suitable for cores exhibiting flat epithelial atypia, in situ lobular neoplasia, atypical ductal hyperplasia, partially sampled papillomas, phyllodes tumors, and radial scars. B4 is a core exhibiting characteristics indicative of malignancy; nonetheless, a definitive diagnosis is unattainable due to factors such as inadequate aberrant tissue or compression of the biopsy. B5 is a core biopsy exhibiting definitive characteristics of malignancy. This is categorized either B5a for ductal carcinoma in situ (DCIS) or B5b for invasive cancer.
Administration • B1: rebiopsy. • B2: provide reassurance and revert to standard recollection. • B3: resection of the anomalous region. • B4: rebiopsy or excision of the anomalous region. • B5: surgical resection via extensive local excision or mastectomy. Efficacy • According to published statistics, the NHS breast screening program saves approximately 1,250 lives annually.
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Pathology - Radial scar
Definition • A benign sclerosing breast lesion distinguished by a central area of scarring encircled by a radiating margin of proliferative glandular tissue. Radial scars vary in size from minuscule microscopic lesions to bigger, clinically discernible masses. Lesions above 1 cm in size are occasionally referred to as 'complex sclerosing lesions.'
Epidemiology • Radial scars are rather prevalent lesions. • Incidence rates fluctuate significantly based on their definition.
The aetiology and pathophysiology of radial scars remain mostly unknown. One concept posits that they signify a reparative process in reaction to regions of tissue injury in the breast.
Presentation • Large radial scars are typically identified on mammography as stellate or spiculated masses. They can nearly replicate the appearance of a cancer. Macroscopy • Radial scars present as stellate, firm lumps that appear to infiltrate the adjacent parenchyma. • They can be readily mistaken for invasive carcinomas upon macroscopic examination.
Histopathology • Radial scars are symmetrical, stellate lesions of the breast with a distinctive zonal architecture. The lesion's center (the nidus) consists of tight collagen bundles and elastic tissue containing entrapped, randomly organized tubules. • Encircling the nidus are radially oriented clusters of ducts and lobules, each directed towards the center of the lesion. The ducts and lobules in this region generally display pronounced benign alterations, such as fibrocystic change, sclerosing adenosis, and significant usual epithelial hyperplasia.
Prognosis: Radial scars are classified as benign lesions; yet, their existence is linked to a twofold elevated risk of later breast cancer development
Definition • A benign sclerosing breast lesion distinguished by a central area of scarring encircled by a radiating margin of proliferative glandular tissue. Radial scars vary in size from minuscule microscopic lesions to bigger, clinically discernible masses. Lesions above 1 cm in size are occasionally referred to as 'complex sclerosing lesions.'
Epidemiology • Radial scars are rather prevalent lesions. • Incidence rates fluctuate significantly based on their definition.
The aetiology and pathophysiology of radial scars remain mostly unknown. One concept posits that they signify a reparative process in reaction to regions of tissue injury in the breast.
Presentation • Large radial scars are typically identified on mammography as stellate or spiculated masses. They can nearly replicate the appearance of a cancer. Macroscopy • Radial scars present as stellate, firm lumps that appear to infiltrate the adjacent parenchyma. • They can be readily mistaken for invasive carcinomas upon macroscopic examination.
Histopathology • Radial scars are symmetrical, stellate lesions of the breast with a distinctive zonal architecture. The lesion's center (the nidus) consists of tight collagen bundles and elastic tissue containing entrapped, randomly organized tubules. • Encircling the nidus are radially oriented clusters of ducts and lobules, each directed towards the center of the lesion. The ducts and lobules in this region generally display pronounced benign alterations, such as fibrocystic change, sclerosing adenosis, and significant usual epithelial hyperplasia.
Prognosis: Radial scars are classified as benign lesions; yet, their existence is linked to a twofold elevated risk of later breast cancer development
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Pathology - Intraductal papilloma
A benign papillary tumor originating in the ductal system of the breast. Papillomas may arise throughout the ductal system, with a preference for either small terminal ductules (peripheral papillomas) or big lactiferous ducts (central papillomas).
Epidemiology • Prevalent. • Predominantly observed in women aged 40 to 59.
Aetiology • Considered to be neoplastic proliferations of glandular and stromal breast tissue.
Presentation • The majority of women with central papillomas have nipple discharge. • Minor peripheral papillomas typically manifest as a breast lump.
Macroscopy: Large papillomas appear as fragile lumps within an enlarged duct.
Cytopathology • Smears obtained from nipple discharge may exhibit branching papillaroid clusters of epithelial cells indicative of the diagnosis.
Histopathology • A papillary mass is observed with a ductal space. • The papillae are broad and rounded, allowing the fronds to interlock seamlessly. • Each frond is rich in stroma, consisting of blood vessels and fibrous tissue. • The epithelium enveloping the fronds is bilayered, comprising inner columnar epithelial cells and outer myoepithelial cells.
Prognosis: Benign lesions; nonetheless, several studies indicate that women with papillomas exhibit a twofold greater chance of developing future invasive breast cancer.
A benign papillary tumor originating in the ductal system of the breast. Papillomas may arise throughout the ductal system, with a preference for either small terminal ductules (peripheral papillomas) or big lactiferous ducts (central papillomas).
Epidemiology • Prevalent. • Predominantly observed in women aged 40 to 59.
Aetiology • Considered to be neoplastic proliferations of glandular and stromal breast tissue.
Presentation • The majority of women with central papillomas have nipple discharge. • Minor peripheral papillomas typically manifest as a breast lump.
Macroscopy: Large papillomas appear as fragile lumps within an enlarged duct.
Cytopathology • Smears obtained from nipple discharge may exhibit branching papillaroid clusters of epithelial cells indicative of the diagnosis.
Histopathology • A papillary mass is observed with a ductal space. • The papillae are broad and rounded, allowing the fronds to interlock seamlessly. • Each frond is rich in stroma, consisting of blood vessels and fibrous tissue. • The epithelium enveloping the fronds is bilayered, comprising inner columnar epithelial cells and outer myoepithelial cells.
Prognosis: Benign lesions; nonetheless, several studies indicate that women with papillomas exhibit a twofold greater chance of developing future invasive breast cancer.
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Pathology - Duct ectasia
Inflammation and dilatation of big mammary ducts
Epidemiology: Prevalent among adult women throughout all age groups. Etiology • Ambiguous. Although infection may complicate duct ectasia, it does not appear to be the primary cause.
Presentation • Nipple discharge is the predominant presenting symptom. The discharge may be transparent, creamy, or blood-tinged. More severe cases may result in pain, a palpable breast lump, and nipple retraction.
Macroscopy: The subareolar ducts exhibit visible dilation and are filled with viscous secretions. Cytopathology Smears derived from a nipple discharge sample exhibit proteinaceous debris and macrophages. Ductal epithelial cells are typically absent. Histopathology • The subareolar ducts are distended and contain proteinaceous substances and macrophages. • Periductal chronic inflammation and fibrosis are also observed.
Prognosis: Duct ectasia is a nonmalignant disorder with no elevated risk of cancer.
Inflammation and dilatation of big mammary ducts
Epidemiology: Prevalent among adult women throughout all age groups. Etiology • Ambiguous. Although infection may complicate duct ectasia, it does not appear to be the primary cause.
Presentation • Nipple discharge is the predominant presenting symptom. The discharge may be transparent, creamy, or blood-tinged. More severe cases may result in pain, a palpable breast lump, and nipple retraction.
Macroscopy: The subareolar ducts exhibit visible dilation and are filled with viscous secretions. Cytopathology Smears derived from a nipple discharge sample exhibit proteinaceous debris and macrophages. Ductal epithelial cells are typically absent. Histopathology • The subareolar ducts are distended and contain proteinaceous substances and macrophages. • Periductal chronic inflammation and fibrosis are also observed.
Prognosis: Duct ectasia is a nonmalignant disorder with no elevated risk of cancer.
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Pathology - Ovarian carcinomas
Definition: A collection of malignant epithelial tumors originating in the ovary.
Epidemiology • Rare, however a predominant cause of cancer-related mortality owing to its delayed presentation.
Aetiology • High parity and the utilization of oral contraceptives are consistently linked to a diminished risk of ovarian cancer. • Post-menopausal women using oestrogen replacement treatment have an elevated risk. • Emerging evidence indicates that obesity correlates with an increased risk.
Carcinogenesis • Recent morphological and genetic evidence indicates that ovarian carcinomas can be classified into several types based on their probable origin and behavior. One group (low-grade serous, mucinous, Brenner) has indolent behavior and infrequently demonstrates TP53 mutations. Certain workers hypothesize that these tumors originate from paraovarian Müllerian epithelium via a progression from benign cystadenoma to borderline neoplasm to invasive carcinoma. The second category, comprising high-grade serous, high-grade endometrioid, and undifferentiated carcinomas, represents highly aggressive malignancies that often exhibit TP53 mutations. Certain workers hypothesize that these tumors may originate in other pelvic organs, such as the Fallopian tubes, and subsequently affect the ovaries. Endometrioid and clear cell ovarian carcinomas are believed to develop from ovarian endometriosis.
Presentation: stomach pain, tiredness, abdominal distension, and diarrhea. The ambiguous and nonspecific characteristics of the symptoms frequently lead women to attribute them to stress or menopause. Women who pursue medical care are frequently misdiagnosed with benign gastrointestinal or urinary disorders. Most women present with advanced disease at the time of diagnosis. Macroscopy The ovary is hypertrophied and substituted by a neoplastic tumor that is frequently both solid and cystic. Mucinous tumors may comprise gelatinous substances. Histopathology Serous carcinomas consist of malignant epithelial cells that proliferate in irregular branching papillae and create slit-like glandular gaps. Psammoma bodies may be observed.
Endometrioid carcinomas consist of malignant epithelial cells that create round or oval glands similar to those found in endometrial carcinomas. Regions of squamous differentiation are prevalent. Mucinous carcinomas consist of malignant epithelial cells characterized by mucinous cytoplasm that forms glandular structures. Differentiating original ovarian mucinous carcinoma from metastatic mucinous carcinoma originating in the gastrointestinal tract can be quite challenging. transparent cell carcinomas consist of malignant epithelial cells characterized by transparent cytoplasm and hobnailing, which proliferate in tiny tubules and papillae. Transitional cell carcinomas exhibit morphological similarities to urothelial carcinomas; however, their immunophenotypic characteristics align more closely with serous carcinomas.
Prognosis: Generally unfavorable, as the majority of women arrive with advanced disease (FIGO III and IV), correlating with a 5-year survival rate of 25–30% (in contrast to 80–90% for FIGO I or II).
FIGO staging of ovarian carcinomas
IA: tumour limited to one ovary; capsule intact, no tumour on the
ovarian surface; no malignant cells in ascites or peritoneal washings.
IB: tumour limited to both ovaries; capsule intact, no tumour on the
ovarian surface; no malignant cells in ascites or peritoneal washings.
IC: tumour limited to one or both ovaries with any of the following:
capsule ruptured, tumour on the ovarian surface, malignant cells in ascites
or peritoneal washings.
IIA: extension and/or implants on the uterus and/or tube(s); no malignant
cells in ascites or peritoneal washings.
IIB: extension to other pelvic tissues; no malignant cells in ascites or
peritoneal washings.
IIC: pelvic extension with malignant cells in ascites or peritoneal
washings.
IIIA: microscopic peritoneal metastasis beyond the pelvis.
IIIB: macroscopic peritoneal metastasis beyond the pelvis, 2cm or less
in size.
IIIC: peritoneal metastasis beyond the pelvis, > 2cm in size and/or
regional lymph node metastasis.
IV: distant metastasis
Definition: A collection of malignant epithelial tumors originating in the ovary.
Epidemiology • Rare, however a predominant cause of cancer-related mortality owing to its delayed presentation.
Aetiology • High parity and the utilization of oral contraceptives are consistently linked to a diminished risk of ovarian cancer. • Post-menopausal women using oestrogen replacement treatment have an elevated risk. • Emerging evidence indicates that obesity correlates with an increased risk.
Carcinogenesis • Recent morphological and genetic evidence indicates that ovarian carcinomas can be classified into several types based on their probable origin and behavior. One group (low-grade serous, mucinous, Brenner) has indolent behavior and infrequently demonstrates TP53 mutations. Certain workers hypothesize that these tumors originate from paraovarian Müllerian epithelium via a progression from benign cystadenoma to borderline neoplasm to invasive carcinoma. The second category, comprising high-grade serous, high-grade endometrioid, and undifferentiated carcinomas, represents highly aggressive malignancies that often exhibit TP53 mutations. Certain workers hypothesize that these tumors may originate in other pelvic organs, such as the Fallopian tubes, and subsequently affect the ovaries. Endometrioid and clear cell ovarian carcinomas are believed to develop from ovarian endometriosis.
Presentation: stomach pain, tiredness, abdominal distension, and diarrhea. The ambiguous and nonspecific characteristics of the symptoms frequently lead women to attribute them to stress or menopause. Women who pursue medical care are frequently misdiagnosed with benign gastrointestinal or urinary disorders. Most women present with advanced disease at the time of diagnosis. Macroscopy The ovary is hypertrophied and substituted by a neoplastic tumor that is frequently both solid and cystic. Mucinous tumors may comprise gelatinous substances. Histopathology Serous carcinomas consist of malignant epithelial cells that proliferate in irregular branching papillae and create slit-like glandular gaps. Psammoma bodies may be observed.
Endometrioid carcinomas consist of malignant epithelial cells that create round or oval glands similar to those found in endometrial carcinomas. Regions of squamous differentiation are prevalent. Mucinous carcinomas consist of malignant epithelial cells characterized by mucinous cytoplasm that forms glandular structures. Differentiating original ovarian mucinous carcinoma from metastatic mucinous carcinoma originating in the gastrointestinal tract can be quite challenging. transparent cell carcinomas consist of malignant epithelial cells characterized by transparent cytoplasm and hobnailing, which proliferate in tiny tubules and papillae. Transitional cell carcinomas exhibit morphological similarities to urothelial carcinomas; however, their immunophenotypic characteristics align more closely with serous carcinomas.
Prognosis: Generally unfavorable, as the majority of women arrive with advanced disease (FIGO III and IV), correlating with a 5-year survival rate of 25–30% (in contrast to 80–90% for FIGO I or II).
FIGO staging of ovarian carcinomas
IA: tumour limited to one ovary; capsule intact, no tumour on the
ovarian surface; no malignant cells in ascites or peritoneal washings.
IB: tumour limited to both ovaries; capsule intact, no tumour on the
ovarian surface; no malignant cells in ascites or peritoneal washings.
IC: tumour limited to one or both ovaries with any of the following:
capsule ruptured, tumour on the ovarian surface, malignant cells in ascites
or peritoneal washings.
IIA: extension and/or implants on the uterus and/or tube(s); no malignant
cells in ascites or peritoneal washings.
IIB: extension to other pelvic tissues; no malignant cells in ascites or
peritoneal washings.
IIC: pelvic extension with malignant cells in ascites or peritoneal
washings.
IIIA: microscopic peritoneal metastasis beyond the pelvis.
IIIB: macroscopic peritoneal metastasis beyond the pelvis, 2cm or less
in size.
IIIC: peritoneal metastasis beyond the pelvis, > 2cm in size and/or
regional lymph node metastasis.
IV: distant metastasis
