-
~2/3 harbor driver mutations in MED12 - a subunit of the mediator complex that regulates RNA polymerase II-dependent gene transcription. This is the same mutation found in uterine leiomyomas, both arising from stromal cells in hormone-responsive organs.
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~1/3 also harbor mutations in RARA (retinoic acid receptor alpha), an estrogen target gene that may cooperate with estrogen receptor (ER) in regulating transcription.
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They are hormonally responsive: grow during pregnancy, regress after menopause.
-
Robbins Pathologic Basis of Disease, p. 984
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In older females, stroma becomes densely hyalinized and epithelium may be atrophic.
-
In younger females, stroma is delicate and often myxoid.
-
S Das Manual on Clinical Surgery, p. 434
-
Robbins Pathologic Basis of Disease, p. 984
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Presentation: Painless, smooth, firm, well-defined, highly mobile lump - classically described as a "breast mouse" or "floating tumour" because it slides freely under examining fingers.
-
No skin fixation, no tethering, no axillary lymphadenopathy.
-
Usually 2-3 cm in size; often multiple and bilateral.
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May wax and wane with the menstrual cycle.
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Rapid growth (including infarction) during pregnancy can mimic carcinoma.
-
Pericanalicular type: ages 15-30 years (young girls).
-
Intracanalicular type: ages 35-50 years (middle-aged women).
-
Bailey & Love's Surgery 28th Ed., p. 944
-
S Das Manual on Clinical Surgery, p. 434
-
Ultrasound: First-line - readily distinguishes fibroadenoma from cysts; shows well-defined, hypoechoic, oval mass. Mammography is less useful for differentiation.
-
Biopsy: Recommended if:
- Patient is over 25 years old
- Atypical features on ultrasound
- Rapidly growing or >3 cm (concern for phyllodes tumor)
-
Triple assessment (clinical + imaging + FNAC/core biopsy) is standard for any breast lump.
-
Bailey & Love's Surgery 28th Ed., p. 944
-
Sabiston Textbook of Surgery, p. 1385
Recent systematic reviews (2025-2026) support
cryoablation and
high-intensity focused ultrasound (HIFU) as effective alternatives to surgery for appropriate candidates - both show good efficacy and safety profiles (PMID:
41061430, PMID:
42147239).