PMID- 22285019 OWN - NLM STAT- MEDLINE DCOM- 20120326 LR - 20220409 IS - 2210-7762 (Print) VI - 204 IP - 12 DP - 2011 Dec TI - Molecular cytogenetic characterization of epithelioid hemangioendothelioma. PG - 671-6 LID - 10.1016/j.cancergen.2011.11.007 [doi] AB - Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor whose pathological diagnosis can be difficult. In the literature two cases of EHE were found to harbor a balanced t(1;3)(p36.3;q25) translocation, suggesting a characteristic chromosomal rearrangement as cause for the development of EHE. In this study, 14 cases of EHE were investigated by interphase fluorescence in situ hybridization (FISH) directed against the translocation breakpoint 1p36.3. A subset of cases was also analyzed by comparative genomic hybridization (CGH) and image cytometry. Five out of eight cases that could be successfully analyzed by FISH harbored a chromosomal break in the 1p36.3 region. The break-apart signals were present in diploid nuclei, and less frequently also in tetraploid nuclei. In the latter, the chromosomal break was present twice, suggesting that polyploidy occurred after the chromosomal alteration. DNA cytometry confirmed that tetraploid cells were present in most examined cases with one case indicating almost equal amounts of diploid and tetraploid tumor cells. CGH revealed single chromosomal imbalances of unclear significance. We could confirm that EHE may harbor a recurrent mutation involving the 1p36.3 chromosomal region thus supporting the notion that the t(1;3)(p36.3;q25) translocation is a relevant genetic finding in this tumor entity. CI - Copyright (c) 2011 Elsevier Inc. All rights reserved. FAU - Woelfel, Cornelius AU - Woelfel C AD - Institute of Pathology, Jena University Hospital, Jena, Germany. FAU - Liehr, Thomas AU - Liehr T FAU - Weise, Anja AU - Weise A FAU - Langrehr, Jan AU - Langrehr J FAU - Kotb, Waleed Amin AU - Kotb WA FAU - Pacyna-Gengelbach, Manuela AU - Pacyna-Gengelbach M FAU - Katenkamp, Detlef AU - Katenkamp D FAU - Petersen, Iver AU - Petersen I LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet JT - Cancer genetics JID - 101539150 SB - IM MH - Adult MH - Aged MH - Chromosomes, Human, Pair 1 MH - Chromosomes, Human, Pair 3 MH - Comparative Genomic Hybridization MH - Female MH - Hemangioendothelioma, Epithelioid/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Middle Aged MH - Tetraploidy MH - *Translocation, Genetic EDAT- 2012/01/31 06:00 MHDA- 2012/03/27 06:00 CRDT- 2012/01/31 06:00 PHST- 2011/05/10 00:00 [received] PHST- 2011/09/20 00:00 [revised] PHST- 2011/11/28 00:00 [accepted] PHST- 2012/01/31 06:00 [entrez] PHST- 2012/01/31 06:00 [pubmed] PHST- 2012/03/27 06:00 [medline] AID - S2210-7762(11)00341-3 [pii] AID - 10.1016/j.cancergen.2011.11.007 [doi] PST - ppublish SO - Cancer Genet. 2011 Dec;204(12):671-6. doi: 10.1016/j.cancergen.2011.11.007.