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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.
Mod Pathol. 2018 03; 31(3):474-487.MP

Abstract

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.

Authors+Show Affiliations

Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy.Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy.Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Italy.Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy.Department of Pathology, Spedali Civili, Brescia, Italy.Department of Pathology, Hospital 'Mater Salutis', Legnago, Italy.Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Italy.Department of Life and Reproduction Sciences, Clinical Biochemistry Laboratory, University of Verona, Verona, Italy.Department of Pathology, San Raffaele Hospital, Milano, Italy.Department of Pathology, Charles University Hospital Plzen, Plzen, Czech Republic.Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy.Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, USA.Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy. Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29052596

Citation

Caliò, Anna, et al. "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." Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, vol. 31, no. 3, 2018, pp. 474-487.
Caliò A, Brunelli M, Segala D, et al. 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. Mod Pathol. 2018;31(3):474-487.
Caliò, A., Brunelli, M., Segala, D., Pedron, S., Tardanico, R., Remo, A., Gobbo, S., Meneghelli, E., Doglioni, C., Hes, O., Zampini, C., Argani, P., & Martignoni, G. (2018). 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. Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 31(3), 474-487. https://doi.org/10.1038/modpathol.2017.144
Caliò A, et al. 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. Mod Pathol. 2018;31(3):474-487. PubMed PMID: 29052596.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Caliò,Anna, AU - Brunelli,Matteo, AU - Segala,Diego, AU - Pedron,Serena, AU - Tardanico,Regina, AU - Remo,Andrea, AU - Gobbo,Stefano, AU - Meneghelli,Emanuela, AU - Doglioni,Claudio, AU - Hes,Ondrej, AU - Zampini,Claudia, AU - Argani,Pedram, AU - Martignoni,Guido, Y1 - 2017/10/20/ PY - 2017/05/02/received PY - 2017/09/10/revised PY - 2017/09/11/accepted PY - 2017/10/21/pubmed PY - 2019/6/22/medline PY - 2017/10/21/entrez SP - 474 EP - 487 JF - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JO - Mod. Pathol. VL - 31 IS - 3 N2 - 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. SN - 1530-0285 UR - https://www.unboundmedicine.com/medline/citation/29052596/t_6/epithelioid_angiomyolipoma_ L2 - http://dx.doi.org/10.1038/modpathol.2017.144 DB - PRIME DP - Unbound Medicine ER -