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

作者信息

Konstantinova Anastasia M, Shelekhova Ksenya V, Imyanitov Evgeny N, Iyevleva Aglaya, Kacerovska Denisa, Michal Michal, Kazakov Dmitry V

机构信息

*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.

出版信息

Am J Dermatopathol. 2017 May;39(5):358-362. doi: 10.1097/DAD.0000000000000725.

DOI:10.1097/DAD.0000000000000725

PMID:28291131

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.

摘要