Syringocystadenoma papilliferum (SCAP) je veľmi zriedkavý benígny nádor kožných adnexodvodený z apokrinných potných žliaz. Typickým miestom vzniku je hlava a krk, ktoré za-hrňuje až 90 % všetkých prípadov. Zaujímavou klinickou črtou SCAP je jeho častá koinci-dencia so sebaceóznym névom, ktorú možno pozorovať asi v jednej tretine prípadov. Autoropisuje prípad 56-ročnej ženy s diagnostikovanou mierne prominujúcou tumoróznou lézioukože za ľavou ušnicou. Histologické vyšetrenie potvrdilo SCAP, ktorý vznikol v teréne nevussebaceus. Keďže táto pseudotumorózna jednotka je často asociovaná aj s inými typmi nádorov,každá lézia, ktorá makroskopicky imponuje ako nevus sebaceus, by mala byť kompletne ex-stirpovaná a dôkladne histologicky vyšetrená. Tým sa zvyšuje predpoklad odhalenia prípadnejkoexistencie inej, prognosticky závažnejšej nádorovej lézie.
Syringocystadenoma papilliferum (SCAP) is a very rare benign adnexal tumour of the skinderived from the apocrine glands. It typically develops on the head and neck, which representup to 90% of all cases. An interesting clinical feature of SCAP is a frequent coincidence withsebaceous naevus that can be found in about one-third of cases. The author describes a casereport of a 56-year-old female who was diagnosed to have a slightly elevated skin tumour inthe left retroauricular region. Histological examination revealed a SCAP arising from seba-ceous naevus. Since the latter pseudotumour entity is often associated even with other neo-plasms, any lesion that grossly appears like a sebaceous naevus should be completely removedand histologically thoroughly examined. This increases the chances of detecting possible co-existence of another, prognostically more unfavourable tumour lesion.
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
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.
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.
- 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
