Pathogenic alterations, namely, fusions and amplifications, of the GLI1 gene have been identified in various mesenchymal tumors, including pericytoma with t(7;12), plexiform fibromyxoma, gastroblastoma, and other malignant mesenchymal neoplasms arising in the soft tissues, as well as in various visceral organs. However, only three cases of GLI1-rearranged renal tumors have been reported to date, comprising two low-grade spindle cell tumors with GLI1::FOXO4 fusion along with one GLI1-rearranged case with an unknown fusion partner. In this study, we analyzed three cases with GLI1::FOXO4 fusion and overlapping morphology. One of the cases was reported previously, but an extended clinical and immunohistochemical information is provided. The studied cases occurred in 2 female and 1 male patients aged 35, 55, and 62 years (mean 51 years). All three tumors affected the renal parenchyma and grew as unencapsulated but well-circumscribed solid masses containing occasional entrapped and dilated renal tubules. The tumor cells were organized in cords, nests, or fascicles, had a round to spindled shape, and exhibited only mild nuclear atypia and minimal mitotic activity. They had a sparse eosinophilic to clear cytoplasm and were embedded in myxocollagenous stroma. Immunohistochemically, all cases expressed GLI1 (albeit with variable intensity) and harbored GLI1::FOXO4 fusion. All three patients were treated solely by complete surgical excision. Case 1 was alive with unknown disease status, case 2 was alive without evidence of disease, and case 3 died of unrelated causes. Our study doubles the number of reported cases with GLI1::FOXO4 fusion. The so far absolute predilection of this fusion for renal tumors, coupled with the absence of reports of other GLI1 fusions in tumors of the kidney, might indicate the potential existence of a distinct renal subtype with morphological features similar to other GLI1-altered tumors. All four reported cases had an uneventful follow-up which, together with their low-grade morphological features, suggests that these tumors might have a favorable prognosis.

• Klíčová slova
• GLI1::FOXO4 fusion, GLI1-altered tumors, Kidney, Soft tissue,
• MeSH
• dospělí MeSH
• forkhead transkripční faktory * genetika   MeSH
• genová přestavba * MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery * genetika   analýza   MeSH
• nádory ledvin * genetika   patologie   MeSH
• protein Gli1 * genetika   MeSH
• proteiny buněčného cyklu * genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• forkhead transkripční faktory * MeSH
• FOXO4 protein, human MeSH Prohlížeč
• GLI1 protein, human MeSH Prohlížeč
• nádorové biomarkery * MeSH
• protein Gli1 * MeSH
• proteiny buněčného cyklu * MeSH

Renal solitary fibrous tumor (SFT) is a rare, and a large scale study on this topic is lacking to date. In this article, we summarize the previously reported cases. The symptoms and signs resemble those of renal cell carcinoma, including hematuria, flank/abdominal/lumbar pain and palpable abdominal mass. Grossly, the tumor demonstrates a well-circumscribed solid mass. Microscopically, the tumor consists of fusiform or ovoid spindle cells and a various amounts of collagen bundles with patternless, storiform, or fascicular arrangements with an occasional hemangiopericytomatous pattern. Immunohistochemically, CD34, CD99 and bcl-2 are often detected. Ultrastructurally, tumor cells contain irregular nuclei, prominent Golgi apparatus, branching rough endoplasmic reticulum, variable numbers of mitochondria. Surgical resection is considered to be the gold standard therapy. Most of renal SFT are benign, but cases of approximately 10 to 15% behave in an aggressive fashion. All patients need to be on long-term follow-up because clinical behavior is rather unpredictable. As the molecular genetic study of renal SFTs is lacking, a large scale study will be desirable in the future.

• Klíčová slova
• CD34, STAT6, Solitary fibrous tumor, kidney,
• MeSH
• lidé MeSH
• nádory ledvin patologie   MeSH
• solitární fibrózní tumory patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy 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