Hidradenoma papilliferum Dotaz Zobrazit nápovědu
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.
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
Hidradenoma papilliferum (HP), also known as papillary hidradenoma, is the most common benign lesion of the female anogenital area derived from anogenital mammary-like glands (AGMLG). HP can be viewed conceptually as the cutaneous counterpart of mammary intraductal papilloma. The authors have studied 264 cases of HP, detailing various changes in the tumor and adjacent AGMLG, with emphasis on mammary-type alterations. In many HP, the authors noticed changes typical for benign breast lesions, such as sclerosing adenosis-like changes, usual, and atypical ductal hyperplasia. Almost in a third of cases, remnants of AGMLG adjacent to the lesion were evident, manifesting columnar changes reminiscent of those seen in breast lesions. This study shows that the histopathological changes in HP run a broad spectrum comparable with that in the mammary counterpart and benign breast disease.
- MeSH
- akrospirom patologie MeSH
- anální kanál patologie MeSH
- biopsie MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mléčné žlázy lidské patologie MeSH
- nádory análních žláz patologie MeSH
- nádory potních žláz patologie MeSH
- nádory vulvy patologie MeSH
- prediktivní hodnota testů MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Anogenital mammary-like glands (AGMLG) are nowadays considered a normal component of the anogenital area. Lesions affecting AGMLG are similar to those seen in breast. We present a case of a complex neoplastic lesion of the AGMLG with mixed features of fibroadenoma and hidradenoma papilliferum combined with pseudoangiomatous stromal hyperplasia. Multinucleated cells were detected in the pseudoangiomatous stromal hyperplasia areas as seen in some patients with neurofibromatosis type 1. The neoplasm is similar to rare mammary composite neoplasms that feature simultaneously patterns of a fibroepithelial neoplasms and intraductal papilloma.
- MeSH
- akrospirom patologie MeSH
- angiomatóza patologie MeSH
- fibroadenom patologie MeSH
- hyperplazie patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory komplexní a smíšené patologie MeSH
- nádory potních žláz patologie MeSH
- nádory vulvy patologie MeSH
- nemoci prsů patologie MeSH
- obrovské buňky patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
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.
Long considered to be ectopic breast tissue representing the caudal remnants of the milk ridges, anogenital mammary-like glands are nowadays thought to represent a normal constituent of the anogenital area. Lesions involving these glands, benign or malignant, epithelial or stromal manifest a striking similarity to their mammary counterparts. This review addresses the recent literature on lesions of anogenital mammary-like glands and our personal experience with various lesions related to these structures. Discussed are the normal anatomy and histology of these glands as well as the clinical presentation, histopathological and immunohistochemical features, molecular biological aspects, and differential diagnosis of various lesions involving anogenital mammary-like glands, including lactating adenoma, hidradenoma papilliferum, hidradenocarcinoma papilliferum, fibroadenomas, phyllodes tumor, pseudoangiomatous stromal hyperplasia, extramammary Paget disease, and other carcinomas. In addition, "nonspecific" epithelial or stromal changes some of which can be likened to similar changes occurring in a range of benign breast disease, including sclerosing adenosis, columnar cell lesions, ductal lesions and various metaplastic changes affecting epithelium and myoepithelium are discussed. Although lesions of anogenital mammary-like glands are often discussed in many dermatopathology textbooks in the context of cutaneous adnexal neoplasms we advocate that the best approach to the diagnosis of these lesions is to relate them to analogous well recognized lesions occurring in the breast, that is, through the eyes of a breast pathologist. This will enable their recognition, precise classification and should introduce greater uniformity in how they are reported in the literature so that more meaningful clinicopathological comparisons and correlations may be made.
- MeSH
- adnexa uteri patologie MeSH
- akrospirom patologie MeSH
- cystosarcoma phyllodes patologie MeSH
- duktální karcinom prsu patologie MeSH
- extramamární Pagetova nemoc patologie MeSH
- fibroadenom patologie MeSH
- laktace MeSH
- lidé MeSH
- lobulární karcinom patologie MeSH
- mléčné žlázy lidské patologie MeSH
- nádory kožních adnex patologie MeSH
- nádory vulvy patologie MeSH
- nemoci děložních adnex patologie MeSH
- vulva cytologie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Anogenital mammary-like glands (AGMLGs) are nowadays considered a normal component of the anogenital area. Lesions involving AGMLGs are histopathologically very similar to their mammary counterparts, but the information on molecular biological mechanisms in these vulvar/perianal tumors is scarce. Mutations in the PI3K-AKT cascade have been found in hidradenoma papilliferum. The authors studied selected BRCA1, BRCA2, and PIK3CA mutations in series of benign and malignant neoplasms thought to be associated with AGMLGs, including 9 cases of primary extramammary Paget disease, 3 different cases of mammary-type carcinoma (adenoid cystic like, tubulolobular, and invasive ductal like), and 5 cases of hidradenoma papilliferum. No BRCA mutation was detected, whereas 3 neoplasms yielded PIK3CA mutation, including extramammary Paget disease, mammary-type invasive ductal carcinoma, and tubulolobular carcinoma. Our study expands the spectrum of lesions of AGMLGs harboring mutations in genes encoding the PI3K-AKT cascade. Further studies of the whole BRCA1 and BRCA2 genes using a larger cohort are needed to clarify their role in the pathogenesis of AGMLG lesions.
- MeSH
- extramamární Pagetova nemoc genetika patologie MeSH
- fosfatidylinositol-3-kinasy třídy I genetika MeSH
- hodnocení rizik MeSH
- imunohistochemie MeSH
- jehlová biopsie MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mléčné žlázy lidské patologie MeSH
- mutace MeSH
- nádory anu genetika patologie MeSH
- nádory vulvy genetika patologie MeSH
- prognóza MeSH
- protein BRCA1 genetika MeSH
- protein BRCA2 genetika MeSH
- regulace genové exprese u nádorů MeSH
- retrospektivní studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Long considered as ectopic breast tissue, anogenital mammary-like glands (MLGs) have recently been suggested to represent distinctive structures located in the anogenital area. We studied 16 neoplasms of anogenital MLG for human papillomavirus (HPV) DNA using INNO-line probe assay (LiPA) HPV Genotyping kit, GP5+/6+, CP(SGB), and FAP 6085-6319 primer sets. The lesions included 3 fibroadenomas, 2 adenosis tumors, 1 invasive ductal carcinoma, 1 tubulolobular carcinoma, 2 hidradenoma papilliferum with prominent cystic change rendering a cystadenoma appearance and oxyphilic metaplasia, and 7 cases of extramammary Paget disease. All 3 fibroadenomas, both adenosis tumors, both hidradenoma papilliferum, and the tubulolobular carcinoma proved negative for HPV DNA. HPV-31 was detected by LiPA in the case of invasive ductal carcinoma. In 2 of the 7 patients with extramammary Paget disease, there was HPV DNA present in the lesional tissue, typed as HPV-6 (LiPA) and a type which was closely related to HPV-21 and HPV-24 (FAP 6085-6319), whereas the remaining 5 cases tested negative. These results coupled with those obtained from literature review suggest that HPV plays no causative role in lesions of anogenital MLG.
- MeSH
- dospělí MeSH
- exokrinní žlázy patologie MeSH
- infekce onkogenními viry epidemiologie MeSH
- infekce papilomavirem epidemiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory anu virologie MeSH
- nádory ženských pohlavních orgánů virologie MeSH
- Papillomaviridae izolace a purifikace MeSH
- polymerázová řetězová reakce MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
