t(6;11) renal cell carcinoma: a study of seven cases including two with aggressive behavior, and utility of CD68 (PG-M1) in the differential diagnosis with pure epithelioid PEComa/epithelioid angiomyolipoma
Language English Country United States Media print-electronic
Document type Journal Article
PubMed
29052596
DOI
10.1038/modpathol.2017.144
PII: S0893-3952(22)01197-8
Knihovny.cz E-resources
- MeSH
- Angiomyolipoma chemistry pathology MeSH
- Antigens, Differentiation, Myelomonocytic analysis MeSH
- Antigens, CD analysis MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- In Situ Hybridization, Fluorescence MeSH
- Immunohistochemistry MeSH
- Carcinoma, Renal Cell chemistry genetics secondary MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosomes, Human, Pair 11 genetics MeSH
- Chromosomes, Human, Pair 6 genetics MeSH
- Biomarkers, Tumor analysis MeSH
- Kidney Neoplasms chemistry genetics pathology MeSH
- Perivascular Epithelioid Cell Neoplasms chemistry pathology MeSH
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors genetics MeSH
- Translocation, Genetic MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Antigens, Differentiation, Myelomonocytic MeSH
- Antigens, CD MeSH
- CD68 antigen, human MeSH Browser
- Biomarkers, Tumor MeSH
- TFEB protein, human MeSH Browser
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors MeSH
Renal cell carcinomas with t(6;11) chromosome translocation involving the TFEB gene are indolent neoplasms which often occur in young patients. In this study, we report seven cases of renal cell carcinoma with TFEB rearrangement, two of whom had histologically proven metastasis. Patients (4F, 3M) ranged in age from 19 to 55 years (mean 37). One patient developed paratracheal and pleural metastases 24 months after surgery and died of disease after 46 months; another one recurred with neoplastic nodules in the perinephric fat and pelvic soft tissue. Histologically, either cytological or architectural appearance was peculiar in each case whereas one tumor displayed the typical biphasic morphology. By immunohistochemistry, all tumors labelled for cathepsin K, Melan-A and CD68 (KP1 clone). HMB45 and PAX8 staining were detected in six of seven tumors. All tumors were negative for CD68 (PG-M1 clone), CKAE1-AE3, CK7, CAIX, and AMACR. Seven pure epithelioid PEComa/epithelioid angiomyolipomas, used as control, were positive for cathepsin K, melanocytic markers, and CD68 (PG-M1 and KP1) and negative for PAX8. Fluorescence in situ hybridization results showed the presence of TFEB gene translocation in all t(6;11) renal cell carcinomas with a high frequency of split TFEB fluorescent signals (mean 74%). In the primary and metastatic samples of the two aggressive tumors, increased gene copy number was observed (3-5 fluorescent signals per neoplastic nuclei) with a concomitant increased number of CEP6. Review of the literature revealed older age and larger tumor size as correlating with aggressive behavior in these neoplasms. In conclusion, we present the clinical, morphological and molecular features of seven t(6;11) renal cell carcinomas, two with histologically demonstrated metastasis. We report the high frequency of split signals by FISH in tumors with t(6;11) chromosomal rearrangement and the occurrence of TFEB gene copy number gains in the aggressive cases, analyzing either the primary or metastatic tumor. Finally, we demonstrate the usefulness of CD68 (PG-M1) immunohistochemical staining in distinguishing t(6;11) renal cell carcinoma from pure epithelioid PEComa/epithelioid angiomyolipoma.
Department of Diagnostic and Public Health Section of Pathology University of Verona Verona Italy
Department of Pathology Charles University Hospital Plzen Plzen Czech Republic
Department of Pathology Hospital 'Mater Salutis' Legnago Italy
Department of Pathology Johns Hopkins Medical Institutions Baltimore USA
Department of Pathology Pederzoli Hospital Peschiera del Garda Italy
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