PMID- 20607705 OWN - NLM STAT- MEDLINE DCOM- 20101025 LR - 20220408 IS - 1098-2264 (Electronic) IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 49 IP - 9 DP - 2010 Sep TI - C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. PG - 810-8 LID - 10.1002/gcc.20788 [doi] AB - Chondroid lipoma, a rare benign adipose tissue tumor, may histologically resemble myxoid liposarcoma or extraskeletal myxoid chondrosarcoma, but is genetically distinct. In this study, an identical reciprocal translocation, t(11;16)(q13;p13), was identified in three chondroid lipomas, a finding consistent with previously isolated reports. A fluorescence in situ hybridization (FISH)-based positional cloning strategy using a series of bacterial artificial chromosome (BAC) probe combinations designed to narrow the 16p13 breakpoint revealed MKL2 as the candidate gene. Subsequent 5' RACE studies demonstrated C11orf95 as the MKL2 fusion gene partner. MKL/myocardin-like 2 (MKL2) encodes myocardin-related transcription factor B in a megakaryoblastic leukemia gene family, and C11orf95 (chromosome 11 open reading frame 95) is a hypothetical protein. Sequencing analysis of reverse transcription-polymerse chain reaction (RT-PCR) generated transcripts from all three chondroid lipomas defined the fusion as occurring between exons 5 and 9 of C11orf95 and MKL2, respectively. Dual-color breakpoint spanning probe sets custom-designed for recognition of the translocation event in interphase cells confirmed the anticipated rearrangements of the C11orf95 and MKL2 loci in all cases. The FISH and RT-PCR assays developed in this study can serve as diagnostic adjuncts for the identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma. CI - (c) 2010 Wiley-Liss, Inc. FAU - Huang, Dali AU - Huang D AD - Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198-3135, USA. FAU - Sumegi, Janos AU - Sumegi J FAU - Dal Cin, Paola AU - Dal Cin P FAU - Reith, John D AU - Reith JD FAU - Yasuda, Taketoshi AU - Yasuda T FAU - Nelson, Marilu AU - Nelson M FAU - Muirhead, David AU - Muirhead D FAU - Bridge, Julia A AU - Bridge JA LA - eng GR - P30 CA036727-24S59009/CA/NCI NIH HHS/United States GR - 5 P30 CA036727-2452/CA/NCI NIH HHS/United States GR - U-10-CA98543-091/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (MRTFB protein, human) RN - 0 (RNA, Messenger) RN - 0 (RNA, Neoplasm) RN - 0 (Transcription Factors) SB - IM MH - Adult MH - Aged MH - Chromosomes, Human, Pair 11/*genetics MH - Chromosomes, Human, Pair 16/*genetics MH - Female MH - Humans MH - Immunoenzyme Techniques MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Lipoma/*genetics MH - Male MH - Middle Aged MH - Oncogene Fusion/*genetics MH - Open Reading Frames MH - RNA, Messenger/genetics MH - RNA, Neoplasm/genetics MH - Reverse Transcriptase Polymerase Chain Reaction MH - Transcription Factors/*genetics MH - Translocation, Genetic/*genetics MH - Young Adult PMC - PMC2904421 MID - NIHMS203810 EDAT- 2010/07/08 06:00 MHDA- 2010/10/26 06:00 PMCR- 2011/09/01 CRDT- 2010/07/08 06:00 PHST- 2010/07/08 06:00 [entrez] PHST- 2010/07/08 06:00 [pubmed] PHST- 2010/10/26 06:00 [medline] PHST- 2011/09/01 00:00 [pmc-release] AID - 10.1002/gcc.20788 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 2010 Sep;49(9):810-8. doi: 10.1002/gcc.20788.