Expression of renal cell markers and detection of 3p loss links endolymphatic sac tumor to renal cell carcinoma and warrants careful evaluation to avoid diagnostic pitfalls

التفاصيل البيبلوغرافية
العنوان: Expression of renal cell markers and detection of 3p loss links endolymphatic sac tumor to renal cell carcinoma and warrants careful evaluation to avoid diagnostic pitfalls
المؤلفون: Jason Mull, Joseph N. Rozier, Maria N. Garnovskaya, Fausto J. Rodriguez, Sunil J. Patel, Craig Horbinski, Iya Znoyko, Mary S. Richardson, Ryan Kegl, Tuan Tran, Razvan Lapadat, Malak Abedalthagafi, William Moore, Rachel L Jester, Adriana Olar, Daynna J. Wolff
المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-9 (2018)
Acta Neuropathologica Communications
بيانات النشر: Springer Science and Business Media LLC, 2018.
سنة النشر: 2018
مصطلحات موضوعية: Male, Copy number profiles, 0301 basic medicine, Pathology, urologic and male genital diseases, Stem cell marker, lcsh:RC346-429, Cohort Studies, 0302 clinical medicine, Immunophenotyping, Renal cell carcinoma, Medicine, biology, Chromogranin A, Middle Aged, Magnetic Resonance Imaging, Kidney Neoplasms, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Cytokines, Keratins, Immunohistochemistry, Female, Adult, medicine.medical_specialty, Adolescent, Nerve Tissue Proteins, Endolymphatic sac, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, VHL, Humans, Carcinoma, Renal Cell, Ear Neoplasms, lcsh:Neurology. Diseases of the nervous system, CA-9, business.industry, Research, PAX2 Transcription Factor, Computational Biology, medicine.disease, Clear cell renal cell carcinoma, 030104 developmental biology, PAX-2, biology.protein, Endolymphatic sac tumor, Neurology (clinical), Endolymphatic Sac, business, PAX-8
الوصف: Endolymphatic sac tumor (ELST) is a rare neoplasm arising in the temporal petrous region thought to originate from endolymphatic sac epithelium. It may arise sporadically or in association with Von-Hippel-Lindau syndrome (VHL). The ELST prevalence in VHL ranges from 3 to 16% and may be the initial presentation of the disease. Onset is usually in the 3rd to 5th decade with hearing loss and an indolent course. ELSTs present as locally destructive lesions with characteristic computed tomography imaging features. Histologically, they show papillary, cystic or glandular architectures. Immunohistochemically, they express keratin, EMA, and variably S100 and GFAP. Currently it is recommended that, given its rarity, ELST needs to be differentiated from other entities with similar morphologic patterns, particularly other VHL-associated neoplasms such as metastatic clear cell renal cell carcinoma (ccRCC). Nineteen ELST cases were studied. Immunohistochemistry (18/19) and single nucleotide polymorphism microarray testing was performed (12/19). Comparison with the immunophenotype and copy number profile in RCC is discussed. Patients presented with characteristic bone destructive lesions in the petrous temporal bones. Pathology of tumors showed characteristic ELST morphology with immunoexpression of CK7, GFAP, S100, PAX-8, PAX-2, CA-9 in the tumor cells. Immunostaines for RCC, CD10, CK20, chromogranin A, synaptophysin, TTF-1, thyroglobulin, and transthyretin were negative in the tumor cells. Molecular testing showed loss of 3p and 9q in 66% (8/12) and 58% (7/12) cases, respectively. Immunoreactivity for renal markers in ELST is an important diagnostic caveat and has not been previously reported. In fact, renal markers are currently recommended in order to rule out metastatic RCC although PAX gene complex and CA-9 have been implicated in the development of the inner ear. Importantly copy number assessment of ELST has not been previously reported. Loss of 3p (including the VHL locus) in ELST suggests similar mechanistic origins as ccRCC. Electronic supplementary material The online version of this article (10.1186/s40478-018-0607-0) contains supplementary material, which is available to authorized users.
تدمد: 2051-5960
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b34d9e0736b91ac61620b052aae44ea1
https://doi.org/10.1186/s40478-018-0607-0
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....b34d9e0736b91ac61620b052aae44ea1
قاعدة البيانات: OpenAIRE