Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor
Language English Country United States Media print-electronic
Document type Journal Article
PubMed
28648934
DOI
10.1016/j.anndiagpath.2017.02.004
PII: S1092-9134(17)30041-2
Knihovny.cz E-resources
- Keywords
- AKT1, Anogenital mammary-like glands, Breast, Fibroadenoma, Hidradenoma papilliferum, Intraductal papilloma, PIK3CA, Phyllodes tumor, Vulva,
- MeSH
- Tubular Sweat Gland Adenomas metabolism pathology MeSH
- Phyllodes Tumor metabolism pathology MeSH
- Fibroadenoma metabolism pathology MeSH
- Class I Phosphatidylinositol 3-Kinases metabolism MeSH
- Phosphatidylinositol 3-Kinases metabolism MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation genetics MeSH
- Breast Neoplasms genetics pathology MeSH
- Vulvar Neoplasms pathology MeSH
- Papilloma, Intraductal metabolism pathology MeSH
- Breast pathology MeSH
- Aged MeSH
- High-Throughput Nucleotide Sequencing methods MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Class I Phosphatidylinositol 3-Kinases MeSH
- Phosphatidylinositol 3-Kinases MeSH
- PIK3CA protein, human MeSH Browser
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.
Department of Histopathology King Edward Memorial Hospital Perth Western Australia Australia
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