To date, 13 cases of sporadic renal hemangioblastoma have been reported. In this article, we report such a case that might cause the diagnostic pitfall. A 37-year-old Japanese was found to have a renal mass by periodic medical check-up. He underwent radical nephrectomy. Macroscopically, the tumor was well-defined without fibrous capsule and the cut surface of the tumor exhibited light brown to gray-tan color without hemorrhage or necrosis. Microscopically, the tumor was made up of large polygonal to short spindle cells with eosinophilic cytoplasm with occasional vacuolization and abundant arborizing capillary network. Immunohistochemically, neoplastic cells showed diffuse positivity for inhibin-alpha, S-100 protein, vimentin, CA9, PAX2 and PAX8, but negativity for cytokeratin CAM5.2, alpha smooth muscle actin, Melanosome, Melan A, TFE3 and cathepsin K. In genetic analyses, this tumor showed no changes of VHL gene mutation, hypermethylation and loss of heterozygosity of chromosome 3p. Additionally, G-band karyotype and array comparative genomic hybridization studies showed a normal chromosome. In conclusion, the positivity for CA9, PAX2 and PAX8 in sporadic renal hemangioblastoma may cause the critical diagnostic pitfall in the differential diagnosis from clear cell renal cell carcinoma. Pathologists need to pay attention to systemic evaluation including macroscopic, microscopic and immunohistochemical findings. In some cases, molecular genetic study may be necessary.

• Klíčová slova
• CA9, Hemangioblastoma, PAX2, PAX8, kidney,
• MeSH
• antigeny nádorové metabolismus   MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• hemangioblastom diagnóza   metabolismus   patologie   MeSH
• karboanhydrasa IX MeSH
• karboanhydrasy metabolismus   MeSH
• karcinom z renálních buněk diagnóza   metabolismus   patologie   MeSH
• lidé MeSH
• nádorové biomarkery metabolismus   MeSH
• nádory ledvin diagnóza   metabolismus   patologie   MeSH
• transkripční faktor PAX2 metabolismus   MeSH
• transkripční faktor PAX8 MeSH
• transkripční faktory paired box metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• antigeny nádorové MeSH
• CA9 protein, human MeSH Prohlížeč
• karboanhydrasa IX MeSH
• karboanhydrasy MeSH
• nádorové biomarkery MeSH
• PAX2 protein, human MeSH Prohlížeč
• PAX8 protein, human MeSH Prohlížeč
• transkripční faktor PAX2 MeSH
• transkripční faktor PAX8 MeSH
• transkripční faktory paired box MeSH

We present a series of a distinct tumorous entity named renal angiomyoadenomatous tumor (RAT). Five cases were retrieved from the consultation files of the authors. Histologic and immunohistochemical features were evaluated. Sequencing analysis of coding region of the VHL gene was carried out in all cases. The tumors were composed of admixture of an epithelial clear cell component and prominent leiomyomatous stroma. Epithelial cells formed adenomatous tubular formations endowed with blister-like apical snouts. All tubular/glandular structures were lined by a fine capillary network. The epithelial component was positive for epithelial membrane antigen, CK7, CK20, AE1-AE3, CAM5.2, and vimentin in all cases. In all analyzed samples, no mutation of the VHL gene was found. RAT is a distinct morphologic entity, being different morphologically, immunohistochemically, and genetically from all renal tumors including conventional clear cell carcinoma and mixed epithelial and stromal tumor of kidney.

• MeSH
• adenom genetika   metabolismus   patologie   MeSH
• biologické markery metabolismus   MeSH
• epitelové buňky patologie   MeSH
• keratin-20 metabolismus   MeSH
• keratin-7 metabolismus   MeSH
• keratiny metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mucin 1 metabolismus   MeSH
• mutace MeSH
• nádorový supresorový protein VHL genetika   MeSH
• nádory ledvin genetika   metabolismus   patologie   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• vimentin metabolismus   MeSH
• ztráta heterozygozity MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• biologické markery MeSH
• CAM 5.2 antigen MeSH Prohlížeč
• keratin-20 MeSH
• keratin-7 MeSH
• keratiny MeSH
• mucin 1 MeSH
• nádorový supresorový protein VHL MeSH
• VHL protein, human MeSH Prohlížeč
• vimentin MeSH