BREAST AND FEMALE GENITAL TRACT PATHOLOGY

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CHAPTER 5 BREAST AND FEMALE GENITAL TRACT PATHOLOGY

Pediatric breast pathology

Breast carcinoma
Li–fraumeni syndrome
Juvenile papillomatosis
Fibrocystic change
Fibrous mastopathy / diabetic mastopathy
Fibroadenoma
Phyllodes tumor
Gynecomastia
Virginal hypertrophy of the breast (macromastia)
Supernumerary nipple
Accessory breast tissue

Genital tract pathology

Ovarian germ cell tumors
Mixed germ cell–stromal tumors
Gonadoblastoma
Small cell carcinoma of hypercalcemic type
Ovarian sex-cord stromal tumors
Ovarian cysts
Streak ovary
Massive ovarian edema
Vulval lesions
Clear cell adenocarcinoma of vagina/cervix
Vaginal adenosis

PEDIATRIC BREAST PATHOLOGY

• Malignant disease is rare

image when present more likely to be secondary

– especially ARMS

• Mesenchymal tumors relatively much more common than in adulthood

image vascular lesions
image pseudoangiomatoid stromal hyperplasia

– anastomosing slit-like spaces
– CD34+ spindle cells, CD31−

image fibromatosis

BREAST CARCINOMA

• Rare in childhood
• May affect both females and males

image very rare but reported in boys (Bhagwandeen et al 1999)

• Secretory subtype most common (Longo et al 1999)

image ETV6-NTRK3 associated, same as IFS / CMN (Tognon et al 2002)
image low grade
image histological patterns

– honeycomb / microcystic
– solid
– tubular

image ovoid cells with pale eosinophilic granular cytoplasm
image intracytoplasmic lumina
• DPAS+ and AB+ mucin present
• EMA+
• Good prognosis in children

LI–FRAUMENI SYNDROME

• Predisposition to multiple malignant tumors

image including sarcomas and carcinomas

– occurring in children and adulthood

· soft tissue sarcomas, adrenal cortical carcinoma and brain tumors in childhood
· breast carcinoma in adulthood

• Due to TP53 mutations

JUVENILE PAPILLOMATOSIS

• Mass lesion in breast
• Usually young adults but reported in children

image including rarely infant boys

• Increased risk of familial breast cancer
• Unencapsulated macrocystic lesion with fibrous stroma (Figs 5.1, 5.2)

image multiple cysts
image dilated ducts with apocrine metaplasia
image duct ectasia
image sclerosing adenosis-like changes
image epithelial hyperplasia
image microcalcifications
image

Fig. 5.1

image

Figs 5.1–5.2 Photomicrographs of child with juvenile papillomatosis, demonstrating duct ectasia with apocrine metaplasia and stromal sclerosis.

FIBROCYSTIC CHANGE

• Focal mass lesion in breast
• Cystic change
• Epithelial hyperplasia / metaplasia

image if atypical hyperplasia may be associated with increased risk of breast carcinoma

FIBROUS MASTOPATHY / DIABETIC MASTOPATHY

• Firm breast mass
• Variably cellular spindle cells in collagenous stroma
• Entrapped ducts / lobules
• Lymphocytic infiltration with DM

FIBROADENOMA (Figs 5.3, 5.4)

• Painless firm breast nodule
• May grow very large in adolescents (giant fibroadenoma)
• Epithelial and mesenchymal components
• Pericanalicular pattern

image stromal cells circumferentially surrounding ducts

• Intracanalicular pattern

image ducts compressed into slit-like spaces

• Variably cellular stromal component

image pediatric cases often more cellular
image myxoid or hyaline stromal change

• Epithelial component

image variable hyperplastic and metaplastic changes
image pediatric cases often show epithelial proliferation

• Note: Intramammary hamartoma may show similar clinical and macroscopic features

image circumscribed lesion
image admixture of all components of normal breast tissue

– with or without superimposed secondary changes

image

Fig. 5.3

image

Figs 5.3–5.4 Photomicrographs of child with a juvenile (giant) fibroadenoma, demonstrating cellular stroma which circumferentially surrounds ducts which show epithelial proliferation.

PHYLLODES TUMOR

• Biphasic lesion similar to fibroadenoma
• Most are benign

image local recurrence and metastases reported in minority
image 2% mortality overall
image 10–20% local recurrence (Rajan et al 1998)

• Mainly adults

image well-reported in childhood

• Epithelial structures with surrounding stromal overgrowth

image stroma more cellular than fibroadenoma

– especially hypercellular beneath epithelium
– frankly malignant mesenchymal change may occur

image epithelium forms leaf-like areas

– epithelial hyperplasia / metaplasia

• Predictors of malignant behavior based on:

image degree of hypercellularity
image pleomorphism
image mitotic count
image stromal overgrowth

– poor prediction of behavior in individual cases

image local relapse associated with

– positive margins
– fibroproliferation in surrounding tissue
– necrosis (Barrio et al 2007)

GYNECOMASTIA

• Enlargement of the male breast ductular system

Epidemiology

• Males
• In childhood may occur in neonates and adolescents

Clinical features

• Bilateral but often asymmetric breast enlargement

Histopathological features (Figs 5.5, 5.6)

• Circumscribed area of ducts with surrounding stroma
• Stroma may be myxoid, with scattered inflammatory cells

image hyalinization with progression

• Epithelium usually bland

image ectasia, metaplasia and hyperplasia may occur

image

Fig. 5.5

image

Figs 5.5–5.6 Photomicrographs of breast lesions from a boy with gynecomastia, demonstrating ductular structures within a bland hyalinized stroma.

Differential diagnoses and pitfalls

• Always consider possible underlying endocrinopathies

VIRGINAL HYPERTROPHY OF THE BREAST (MACROMASTIA)

• Gynecomastia-like changes but in female breast around puberty
• Proliferation of ducts within hypocellular stroma

image may show pseudoangiomatous hyperplasia-like stromal changes
image stroma less cellular than fibroadenoma

SUPERNUMERARY NIPPLE

• Pigmented macule on milk line

image rarely more ‘ectopic’ position

• Histologically features of normal nipple
• Wide range of tumor may develop

image usually in adults

ACCESSORY BREAST TISSUE

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