PMID- 31112346 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20230201 IS - 1098-2264 (Electronic) IS - 1045-2257 (Linking) VI - 59 IP - 1 DP - 2020 Jan TI - Cytogenetic analysis of 130 renal oncocytomas identify three distinct and mutually exclusive diagnostic classes of chromosome aberrations. PG - 6-12 LID - 10.1002/gcc.22766 [doi] AB - The cytogenetic alterations in renal oncocytoma (RO) are poorly understood. We analyzed 130 consecutive RO for karyotypic alterations. Clonal chromosome abnormalities were identified in 63 (49%) cases, which could be categorized into three classes of mutually exclusive cytogenetic categories. Class 1 (N = 20) RO had diploid karyotypes with characteristic 11q13 rearrangement in balanced translocations with 10 or more different chromosome partners in all cases. We identified recurrent translocation partners at 5q35, 6p21, 9p24, 11p13-14, and 11q23, and confirmed that CCND1 gene rearrangement at 11q13 utilizing fluorescence in situ hybridization (FISH). Class 2 RO (N = 25) exhibited hypodiploid karyotypes with loss of chromosome 1 and/or losses of Y in males and X in females in all cases. The class 3 tumors comprising of 18 cases showed diverse types of abnormalities with the involvement of two or more chromosomes exclusive of abnormalities seen in classes 1 and 2 tumors. Furthermore, karyotypically uninformative cases were subjected to FISH analysis to identify classes 1 and 2 abnormalities. In this group, we found similar frequencies of CCND1 rearrangement, loss of chromosome 1 or Y as with karyotypically abnormal cases. We validated our results against 91 tumors from the Mitelman database. Correlation of clinical data with all the three classes of ROs showed no clear evidence of overall patient survival. Our findings support the hypothesis that RO exhibit three principal cytogenetic categories, which may have different roles in initiation and/or progression. These cytogenetic markers provide a key tool in the diagnostic evaluation of RO. CI - (c) 2019 Wiley Periodicals, Inc. FAU - Anderson, Christopher B AU - Anderson CB AD - Department of Urology, Columbia University Irving Medical Center, New York, New York. FAU - Lipsky, Michael AU - Lipsky M AD - Department of Urology, Columbia University Irving Medical Center, New York, New York. FAU - Nandula, Subhadra V AU - Nandula SV AD - Cancer Genetics, Inc., Rutherford, New Jersey. FAU - Freeman, Christopher E AU - Freeman CE AD - Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York. FAU - Matthews, Thomas AU - Matthews T AD - Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York. FAU - Walsh, Caitlin E AU - Walsh CE AD - Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York. FAU - Li, Gen AU - Li G AD - Department of Biostatistics, Columbia University Irving Medical Center, New York, New York. FAU - Szabolcs, Matthias AU - Szabolcs M AD - Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York. FAU - Mansukhani, Mahesh M AU - Mansukhani MM AD - Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York. FAU - McKiernan, James M AU - McKiernan JM AD - Department of Urology, Columbia University Irving Medical Center, New York, New York. FAU - Murty, Vundavalli V AU - Murty VV AUID- ORCID: 0000-0003-1603-6414 AD - Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York. LA - eng PT - Journal Article DEP - 20190604 PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 SB - IM OTO - NOTNLM OT - 11q13 rearrangement OT - cyclin D1 OT - cytogenetics OT - loss of chromosome 1 OT - renal oncocytoma EDAT- 2019/05/22 06:00 MHDA- 2019/05/22 06:01 CRDT- 2019/05/22 06:00 PHST- 2019/05/15 00:00 [revised] PHST- 2019/03/02 00:00 [received] PHST- 2019/05/15 00:00 [accepted] PHST- 2019/05/22 06:00 [pubmed] PHST- 2019/05/22 06:01 [medline] PHST- 2019/05/22 06:00 [entrez] AID - 10.1002/gcc.22766 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 2020 Jan;59(1):6-12. doi: 10.1002/gcc.22766. Epub 2019 Jun 4.