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Breast hamartoma: a clinicopathologic analysis of 27 cases and a literature review

Background: Myoid (muscular) hamartoma (MH) of the breast is a rare benign tumour-forming lesion composed of differentiated mammary glandular and stromal structures, fatty tissue, a

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Myoid (Muscular) Hamartoma of the Breast: Case Report and Review of the Literature

Myofibroblastic, fibroblastic and myoid lesions of the breast.

Myoid hamartomas of the breast are extremely rare breast lesions, with a poorly understood pathogenesis. We describe the case of a 38-year-old premenopausal woman who presenting with a mass in the left breast. Mammography revealed an oval mass that was partly indistinct, and ultrasonography showed a hypoechoic mass with a slightly irregular margin. Bilateral breast dynamic magnetic resonance imaging was performed for a more detailed evaluation. The images showed rapid initial enhancement and a microlobulated margin. Because the suspicion of malignancy was strong at that time, core needle biopsy was performed. Histologically, the tumor was identified as fibroadenoma. A case of myoid hamartoma of the breast that proved difficult to diagnose is reported, and discussed with reference to the literature.

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Myoid hamartoma of the breast that proved difficult to diagnose: a case report

Background/aim Myoid hamartoma of the breast is a very rare benign lesion of which only a few cases have been reported. The pathogenesis is unknown and nothing is known about its genetic constitution. We report here the genetic characterization of a myoid hamartoma of the breast. Materials and methods Cytogenetic, fluorescence in situ hybridization (FISH), RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing analyses were performed on a myoid hamartoma of the breast. Results G-Banding analysis of short-term cultured tumor cells yielded the karyotype 46,XX,t(5;12)(p13;q14)[6]/46,XX[4]. FISH showed rearrangement of the high mobility group AT-hook 2 (HMGA2) gene. RNA sequencing detected fusion of HMGA2 (12q14) with a sequence from 5p13. RT-PCR together with Sanger sequencing verified the HMGA2-fusion transcript. Conclusion Myoid hamartoma of the breast may be pathogenetically related to benign connective tissue tumors with HMGA2 rearrangements, such as pulmonary hamartomas, lipomas, myolipomas, and leiomyomas.

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Genetic Characterization of Myoid Hamartoma of the Breast.

Myoid hamartomas of the breast are extremely rare breast lesions, with a poorly understood pathogenesis. A 60-year-old woman presented with a palpable mass in the right breast. Breast ultrasonography and mammography showed the presence of a breast lesion with benign characters, but were not diagnostic. A local excision of the mass was performed; histology revealed that the tumor was composed of epithelial and stromal cells. Histological and immunohistochemical findings established the diagnosis of myoid hamartoma. The patient is well 4 years later without tumor recurrence. Breast myoid hamartomas are exceptionally rare benign lesions; complete surgical excision achieves cure.

Constantinos N. Bakoyiannis

Papers

Myoid hamartoma of the breast: a case report and review of the literature.