Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor

Anastasia M. Konstantinova, Tomas Vanecek, Petr Martinek, Liubov Kyrpychova, Dominic V. Spagnolo, Colin J.R. Stewart, Francesca Portelli, Michal Michal, Dmitry V. Kazakov

Результат исследований: Научные публикации в периодических изданияхстатья

5 Цитирования (Scopus)

Аннотация

Lesions affecting anogenital mammary–like glands (AGMLG) are histopathologically very similar to those seen in the breast but whether this morphological similarity is also reflected at the genetic level is unknown. To compare the underlying molecular mechanisms in lesions of AGMLG and their mammary counterparts, we analyzed the mutational profile of 16 anogenital neoplasms including 5 hidradenomas papilliferum (HP), 1 lesion with features of HP and fibroadenoma (FA), 7 FA, 3 phyllodes tumors (PhT)) and 18 analogous breast lesions (6 intraductal papillomas (IDP), 9 FA, and 3 PhT) by high-coverage next generation sequencing (NGS) using a panel comprising 50 cancer-related genes. Additionally, all cases were analyzed for the presence of a mutation in the MED12 gene. All detected mutations with allele frequencies over 20% were independently validated by Sanger sequencing (concordance: 100%). Mutations in PIK3CA, AKT1, MET, ABL1 and TP53 genes were found in lesions of AGMLG and also their mammary counterparts. The PI3K-AKT cascade plays a role in tumors arising at both sites. It appears that some histopathologically similar anogenital and breast lesions develop along similar molecular pathways.

Язык оригиналаанглийский
Страницы (с-по)12-18
Число страниц7
ЖурналAnnals of Diagnostic Pathology
Том28
DOI
СостояниеОпубликовано - 1 июн 2017

Предметные области Scopus

  • Патология и судебная медицина

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