Syringocystadenoma papilliferum (SCAP) is a benign tumor most commonly located on the head and neck area often associated with nevus sebaceus. In its usual location, the human papillomavirus (HPV) DNA and mutations in the RAS/mitogen-activated protein kinase signaling pathway have been detected in SCAP. We studied 16 cases of SCAP in the anogenital areas and buttock where this neoplasm is rare and attempted to find out whether SCAP in these sites have different histopathological and molecular biological features. It seems that there is no significant difference between the morphology of anogenital SCAP and SCAP in other locations. Several tumors in our cohort demonstrated features resembling those seen in warts, but HPV DNA was not found in these lesions. On the contrary, we identified DNA of HPV high-risk types in some tumors without HPV-related morphology. Our study confirms the role of HRAS and BRAF V600 mutations in the pathogenesis of SCAP, including SCAP in the anogenital areas and buttock.

• MeSH
• adenomy potních žláz genetika   patologie   virologie   MeSH
• anální kanál patologie   MeSH
• dospělí MeSH
• hýždě patologie   MeSH
• infekce papilomavirem epidemiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• nádory mužských pohlavních orgánů genetika   patologie   MeSH
• nádory potních žláz genetika   patologie   virologie   MeSH
• nádory ženských pohlavních orgánů genetika   patologie   virologie   MeSH
• Papillomaviridae MeSH
• protoonkogenní proteiny B-Raf genetika   MeSH
• protoonkogenní proteiny p21(ras) genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• BRAF protein, human MeSH Prohlížeč
• HRAS protein, human MeSH Prohlížeč
• protoonkogenní proteiny B-Raf MeSH
• protoonkogenní proteiny p21(ras) MeSH

Mammary-like glands are a normal anatomical component of the anogenital region and can give rise to many benign and malignant tumors that morphologically mimic the similar diseases of the breast. The literature review is complemented by a description of 199 cases of malignant tumors of mammary-like glands. The paper presents the clinical and morphological characteristics of various malignant tumors of mammary-like glands, including extramammary Paget's disease, ductal, tubulolobular, adenoid cystic adenocarcinoma, low-grade phyllodes tumor, etc.

Маммароподобные железы являются нормальным анатомическим компонентом аногенитальной области и могут давать начало многочисленным доброкачественным и злокачественным опухолям, морфологически напоминающим аналогичные заболевания молочной железы. Обзор литературы дополнен описанием 199 случаев злокачественных опухолей маммароподобных желез. Представлена клинико-морфологическая характеристика различных злокачественных опухолей маммароподобных желез, в том числе экстрамаммарной болезни Педжета, дуктальной, тубулолобулярной, аденокистозной аденокарциномы, филлоидной опухоли низкой степени злокачественности и др.

• Klíčová slova
• anogenital area, carcinoma, extramammary Paget’s disease, mammary-like glands, papillary hidradenocarcinoma, pathology, vulva,
• MeSH
• adenomy potních žláz patologie   MeSH
• extramamární Pagetova nemoc patologie   MeSH
• karcinom patologie   MeSH
• lidé MeSH
• nádory potních žláz patologie   MeSH
• nádory vulvy patologie   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

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.

• Klíčová slova
• AKT1, Anogenital mammary-like glands, Breast, Fibroadenoma, Hidradenoma papilliferum, Intraductal papilloma, PIK3CA, Phyllodes tumor, Vulva,
• MeSH
• adenomy potních žláz metabolismus   patologie   MeSH
• cystosarcoma phyllodes metabolismus   patologie   MeSH
• fibroadenom metabolismus   patologie   MeSH
• fosfatidylinositol-3-kinasy třídy I metabolismus   MeSH
• fosfatidylinositol-3-kinasy metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mutace genetika   MeSH
• nádory prsu genetika   patologie   MeSH
• nádory vulvy patologie   MeSH
• papilom intraduktální metabolismus   patologie   MeSH
• prsy patologie   MeSH
• senioři MeSH
• vysoce účinné nukleotidové sekvenování metody   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• fosfatidylinositol-3-kinasy třídy I MeSH
• fosfatidylinositol-3-kinasy MeSH
• PIK3CA protein, human MeSH Prohlížeč