PMID- 29136690 OWN - NLM STAT- MEDLINE DCOM- 20171226 LR - 20201209 IS - 0529-5807 (Print) IS - 0529-5807 (Linking) VI - 46 IP - 11 DP - 2017 Nov 8 TI - [Values of JAZF1 gene rearrangement detected by fluorescence in-situ hybridization in diagnosis of endometrial stromal tumours]. PG - 769-774 LID - 10.3760/cma.j.issn.0529-5807.2017.11.007 [doi] AB - Objective: To investigate the role of JAZF1 gene rearrangement in the diagnosis and differential diagnosis of endometrial stromal sarcomas by fluorescence in situ hybridization (FISH). Methods: JAZF1 gene rearrangement was analyzed by FISH in 129 cases of ESS diagnosed from January 2008 to December 2016 including 105 cases of low-grade endometrial stromal sarcoma (LG-ESS), 21 cases of high-grade endometrial stromal sarcoma (HG-ESS) and 3 cases of undifferentiated uterine sarcoma (UUS). Sixteen cases of the related tumours in uterus were also collected as control group. The results were compared with our previous studies of JAZF1/JJAZ1 fusion gene in ESS by RT-PCR. Results: Detection of JAZF1 gene rearrangement by FISH was successfully analyzed in 144 cases. JAZF1 gene alteration was detected in 63 cases, all of which were LG-ESS, with an overall positivity of 60.6% (63/104), while no JAZF1 gene rearrangement was found in all other cases. JAZF1 gene rearrangement was present in LG-ESS with classic histology (69.3%, 52/75), smooth muscle differentiation (2/10), sex cord-like differentiation (4/5), fibromyxoid change (1/5), clear cell change (0/1), skeletal muscle differentiation (0/1), and schwannoma-like palisading pattern (0/1). The different components in all the cases of LG-ESS with variant histology had the clonal origin, with or without JAZF1 gene alteration. Compared to the results of JAZF1/JJAZ1 fusion gene by RT-PCR, the positive rate of JAZF1 gene rearrangement in LG-ESS by FISH (61.9%, 26/42) was significantly higher than that of RT-PCR (30.0%, 12/40; P<0.01). Conclusions: JAZF1 gene rearrangement is present only in LG-ESS, but not in HG-ESS, UUS or other related tumours in uterus. The frequency of JAZF1 gene rearrangement varies between classic LG-ESS and different morphologic variants. It is frequently, but not consistently, present in classic LG-ESS and less often positive in variant cases. The results of JAZF1 gene alterations in LG-ESS with different morphologic variants support the contention that the endometrial stromal and their variant morphologic components have the same clonal origin. Detection of JAZF1 gene rearrangement by FISH is very useful for the diagnosis and differential diagnosis of ESS. FAU - Bai, Q M AU - Bai QM AD - Department of Pathology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. FAU - Chang, B AU - Chang B FAU - Tu, X Y AU - Tu XY FAU - Bi, R AU - Bi R FAU - Cheng, Y F AU - Cheng YF FAU - Huang, D AU - Huang D FAU - Zhu, X L AU - Zhu XL FAU - Wu, L J AU - Wu LJ FAU - Zhang, X AU - Zhang X FAU - Zhou, X Y AU - Zhou XY FAU - Yang, W T AU - Yang WT LA - chi PT - Journal Article PL - China TA - Zhonghua Bing Li Xue Za Zhi JT - Zhonghua bing li xue za zhi = Chinese journal of pathology JID - 0005331 RN - 0 (Co-Repressor Proteins) RN - 0 (DNA-Binding Proteins) RN - 0 (JAZF1 protein, human) RN - 0 (Neoplasm Proteins) RN - 0 (Transcription Factors) SB - IM MH - Co-Repressor Proteins MH - DNA-Binding Proteins MH - Endometrial Neoplasms/*diagnosis/*genetics MH - Endometrial Stromal Tumors/*diagnosis/*genetics MH - Female MH - *Gene Rearrangement MH - Humans MH - In Situ Hybridization, Fluorescence MH - Neoplasm Proteins/*genetics MH - Sarcoma, Endometrial Stromal/*diagnosis/*genetics MH - Transcription Factors OTO - NOTNLM OT - In situ hybridization, fluorescence OT - Reverse transcriptase polymerase chain reaction OT - Sarcoma, endometrial stromal OT - Translocation, genetic EDAT- 2017/11/15 06:00 MHDA- 2017/12/27 06:00 CRDT- 2017/11/15 06:00 PHST- 2017/11/15 06:00 [entrez] PHST- 2017/11/15 06:00 [pubmed] PHST- 2017/12/27 06:00 [medline] AID - 10.3760/cma.j.issn.0529-5807.2017.11.007 [doi] PST - ppublish SO - Zhonghua Bing Li Xue Za Zhi. 2017 Nov 8;46(11):769-774. doi: 10.3760/cma.j.issn.0529-5807.2017.11.007.