PMID- 25706482 OWN - NLM STAT- MEDLINE DCOM- 20151102 LR - 20181113 IS - 1098-2264 (Electronic) IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 54 IP - 5 DP - 2015 May TI - Novel FUS-KLF17 and EWSR1-KLF17 fusions in myoepithelial tumors. PG - 267-75 LID - 10.1002/gcc.22240 [doi] AB - Myoepithelial (ME) tumors of soft tissue and bone display a heterogeneous histologic spectrum and in about half of the cases harbor EWSR1 gene rearrangements. Despite rare case reports, the prevalence of fused in sarcoma (FUS) gene abnormalities and its related fusion partners remains undetermined among ME tumors. Therefore, we screened 66 EWSR1-negative ME tumors for FUS abnormalities by fluorescence in situ hybridization (FISH). In an index FUS-rearranged case, 3'-rapid amplification of cDNA ends (RACE) was applied to identify the fusion partner. Results were further confirmed by reverse transcription-PCR, followed by FISH screening the entire cohort of FUS-rearranged and EWSR1-positive ME lesions lacking a known fusion partner. The correlation between genotype and clinicopathological features was also investigated. As a result, six (9%) FUS-rearranged cases were identified, spanning divergent age groups, tumor locations, and morphologic features. A novel FUS-KLF17 fusion was identified by 3'-RACE in an 11-year-old girl with a foot lesion associated with locoregional metastases. Three additional cases with FUS-KLF17 fusions were identified and one KLF17 rearrangement (6.3%) was found among the 16 EWSR1-positive cases tested. The KLF17-related ME tumors affected younger patients and often exhibited trabecular growth in a myxohyaline stroma, but this genotype did not correlate with a malignant phenotype. In conclusion, a small subset of ME tumors harbor FUS rearrangements, two thirds of them being associated with KLF17 fusion. FUS FISH analysis is recommended in EWSR1-negative lesions in which a ME diagnosis is suspected. KLF17 is also a rare gene fusion partner to EWSR1-rearranged ME tumors. CI - (c) 2015 Wiley Periodicals, Inc. FAU - Huang, Shih-Chiang AU - Huang SC AD - Department of Pathology, Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, Taoyuan, Taiwan; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY. FAU - Chen, Hsiao-Wei AU - Chen HW FAU - Zhang, Lei AU - Zhang L FAU - Sung, Yun-Shao AU - Sung YS FAU - Agaram, Narasimhan P AU - Agaram NP FAU - Davis, Mary AU - Davis M FAU - Edelman, Morris AU - Edelman M FAU - Fletcher, Christopher D M AU - Fletcher CD FAU - Antonescu, Cristina R AU - Antonescu CR LA - eng GR - P01 CA047179/CA/NCI NIH HHS/United States GR - P50 CA140146/CA/NCI NIH HHS/United States GR - P01CA47179/CA/NCI NIH HHS/United States GR - P50CA140146-01/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural DEP - 20150223 PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (Calmodulin-Binding Proteins) RN - 0 (EWSR1 protein, human) RN - 0 (FUS protein, human) RN - 0 (KLF17 protein, human) RN - 0 (RNA-Binding Protein EWS) RN - 0 (RNA-Binding Protein FUS) RN - 0 (RNA-Binding Proteins) RN - 0 (Transcription Factors) SB - IM MH - Adolescent MH - Adult MH - Calmodulin-Binding Proteins/*genetics MH - Child MH - Cohort Studies MH - Female MH - Humans MH - Male MH - Middle Aged MH - Myoepithelioma/*genetics/physiopathology MH - *Oncogene Fusion MH - RNA-Binding Protein EWS MH - RNA-Binding Protein FUS/*genetics MH - RNA-Binding Proteins/*genetics MH - Transcription Factors/*genetics MH - Young Adult PMC - PMC4376655 MID - NIHMS671797 COIS- Conflict of interest: none EDAT- 2015/02/24 06:00 MHDA- 2015/11/03 06:00 PMCR- 2015/05/01 CRDT- 2015/02/24 06:00 PHST- 2014/11/18 00:00 [received] PHST- 2014/12/16 00:00 [accepted] PHST- 2015/02/24 06:00 [entrez] PHST- 2015/02/24 06:00 [pubmed] PHST- 2015/11/03 06:00 [medline] PHST- 2015/05/01 00:00 [pmc-release] AID - 10.1002/gcc.22240 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 2015 May;54(5):267-75. doi: 10.1002/gcc.22240. Epub 2015 Feb 23.