The diagnostic value of FISH and RNA sequencing in high-grade endometrial stromal sarcoma
Objective To investigate the carcinogenic mechanisms of molecular abnormalities in high-grade endometrial stromal sarcoma(HG-ESS).Methods The clinicopathological data of 21 patients with HG-ESS were retrospectively analyzed.Fluorescence in situ hybridization(FISH)was performed on the tumor samples using YWHAE single fusion translocation probe.RNA sequencing was performed on 5 patients with accessible tumor tissues to verify the fusion status.Immunohistochemistry(IHC)and immunofluorescence(IF)were performed for patients with YWHAE-NUTM2B fusion to verify the fusion function.Based on Kaplan-Meier method and log-rank test,survival analysis was performed on patients with positive and negative YWHAE fusion.Results The average age at diagnosis of the 21 HG-ESS patients was(46.1±12.6)years old,and HG-ESS patients all had abnormal vaginal bleeding symptom.FISH results of 21 HG-ESS patients were negative in 11 cases,positive in 7 cases,and atypical in 3 cases.The RNA sequencing results of 5 accessible tissue samples showed that YWHAE-NUTM2B typical fusion was detected in 1 FISH-positive and 1 FISH-atypical patient,and no fusion was detected in 3 FISH-negative samples.The nuclear expression of the fusion gene product(14-3-3 s)was confirmed by IHC and IF in two cases with YWHAE-NUTM2B fusion detected using RNA sequencing.Kaplan-Meier survival curve suggested that the YWHAE fusion positive group survived slightly better than the YWHAE fusion negative group,but the difference between these two groups was not statistically significant(P＞0.05).Conclusions FISH and RNA sequencing methods are effective techniques for differential diagnosis of HG-ESS.RNA sequencing should be performed in HG-ESS patients with negative and atypical YWHAE fusion FISH results to check the presence of YWHAE fusion or other specific structural variants.
high-grade endometrial stromal sarcomaYWHAE-NUTM2B fusionfluorescence in situ hybridizationRNA sequencing
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