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Study of Selected BRCA1, BRCA2, and PIK3CA Mutations in Benign and Malignant Lesions of Anogenital Mammary–Like Glands

Konstantinova, Anastasia M. MD, PhD*,†,‡; Shelekhova, Ksenya V. MD, PhD*,‡,§; Imyanitov, Evgeny N. MD, PhD¶,‖; Iyevleva, Aglaya PhD¶,‖; Kacerovska, Denisa MD, PhD**,††; Michal, Michal MD**,††; Kazakov, Dmitry V. MD, PhD**

The American Journal of Dermatopathology: May 2017 - Volume 39 - Issue 5 - p 358–362
doi: 10.1097/DAD.0000000000000725
Original Study

Abstract: Anogenital mammary–like glands (AGMLGs) are nowadays considered a normal component of the anogenital area. Lesions involving AGMLGs are histopathologically very similar to their mammary counterparts, but the information on molecular biological mechanisms in these vulvar/perianal tumors is scarce. Mutations in the PI3K-AKT cascade have been found in hidradenoma papilliferum. The authors studied selected BRCA1, BRCA2, and PIK3CA mutations in series of benign and malignant neoplasms thought to be associated with AGMLGs, including 9 cases of primary extramammary Paget disease, 3 different cases of mammary-type carcinoma (adenoid cystic like, tubulolobular, and invasive ductal like), and 5 cases of hidradenoma papilliferum. No BRCA mutation was detected, whereas 3 neoplasms yielded PIK3CA mutation, including extramammary Paget disease, mammary-type invasive ductal carcinoma, and tubulolobular carcinoma. Our study expands the spectrum of lesions of AGMLGs harboring mutations in genes encoding the PI3K-AKT cascade. Further studies of the whole BRCA1 and BRCA2 genes using a larger cohort are needed to clarify their role in the pathogenesis of AGMLG lesions.

*Department of Pathology, Clinical Research and Practical Center for Specialized Oncological Care, Saint Petersburg, Russia;

Department of Pathology, Medical Faculty, Saint-Petersburg State University, Saint-Petersburg, Russia;

Department of Pathology, Saint-Petersburg Medico-Social Institute, Saint Petersburg, Russia;

Departments of §Pathology, and

Tumor Growth Biology, Petrov's Research Institute of Oncology, Saint Petersburg, Russia;

Department of Medical Genetics, Saint Petersburg Pediatric Medical University, Saint Petersburg, Russia;

**Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic; and

††Bioptical Laboratory, Pilsen, Czech Republic.

Reprints: Dmitry V. Kazakov, MD, PhD, Sikl's Department of Pathology, Charles University Medical Faculty Hospital, Alej Svobody 80, 304 60 Pilsen, Czech Republic (e-mail:

Supported by the Russian Scientific Fund (grant number 14-15-00528).

The authors declare no conflicts of interest.

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