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

6533b822fe1ef96bd127d8c3

RESEARCH PRODUCT

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

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

subject

0301 basic medicine Pathology medicine.medical_specialty Hidradenoma Class I Phosphatidylinositol 3-Kinases Breast Neoplasms Biology Pathology and Forensic Medicine Vulva MED12 Papilloma Intraductal Lesion Phosphatidylinositol 3-Kinases 03 medical and health sciences symbols.namesake 0302 clinical medicine Phyllodes Tumor Intraductal papilloma medicine Humans Breast Aged Sanger sequencing Vulvar Neoplasms High-Throughput Nucleotide Sequencing Phyllodes tumor General Medicine Middle Aged medicine.disease Fibroadenoma Tubular Sweat Gland Adenomas 030104 developmental biology medicine.anatomical_structure Fibroadenoma 030220 oncology & carcinogenesis Mutation symbols Female medicine.symptom

description

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.

year	journal	country	edition	language
2017-02-07	Annals of Diagnostic Pathology

https://doi.org/10.1016/j.anndiagpath.2017.02.004