Diagnostic Utility of the JAZF1/JJAZ1 Gene Fusion in Endometrial Stromal Sarcomas and Their Histologic Variants

BACKGROUND: The diagnosis of endometrial stromal sarcoma (ESS) is often difficult in cases showing diverse histological differentiation or in undifferentiated endometrial sarcoma (UES). Recently, JAZF1/JJAZ1 gene fusion has been described as a defining feature of low-grade ESS (LGESS). However, its prevalence is variably reported, and the diagnostic utility has rarely been examined for cases showing various histological differentiation. METHODS: To test the diagnostic utility of JAZF1/JJAZ1 gene fusion in difficult cases, we compared the prevalence of the JAZF1/JJAZ1 fusion gene in LGESS with and without histological differentiation. RESULTS: The JAZF1/JJAZ1 fusion transcript was detected in 18 of 21 LGESS (85.7%), including 14 classical LGESS (93%), four LGESS with diverse histological differentiation (67%), and two with UES (28.6%). Positive cases included two LGESS with sex cord-like differentiation, one with osseous differentiation, and two UES. LGESS showing smooth muscle differentiation revealed the fusion transcript only in the classic area. Direct sequencing analysis of two LGESS revealed a previously reported breakpoint at t(7;17)(p15;q21). CONCLUSIONS: The JAZF1/JJAZ1 fusion gene was identified in a significant proportion of LGESS showing secondary histological differentiation except in cases with smooth muscle differentiation. Thus, this fusion gene may be useful to confirm the diagnosis in difficult cases of LGESS.

Effect of novel gene JAZF1 overexpression on glucose and lipid metabolism in 3T3-L1 adipocytes / 中华内分泌代谢杂志

Objective To observe the effects of JAZF1 (Juxtaposed with another zinc finger gene 1 ) overexpression on glucose and lipid metabolism in 3T3-L1 adipocytes. Methods The tissue distribution of JAZF1 in healthy C57BL/6J mice was detected by real-time quantitative PCR( RT-QPCR). Expression vector for JAZF1 gene was constructed and transfected into 3T3-L1 adipocytes. The mRNA levels of JAZF1, GLUT1, GLUT4, FAS, ACC, SREBP1, ATGL, and HSL implicated in glucose and lipid metabolism were determined by RT-QPCR; JAZF1 protein level was measured by Western blot. Intracelluar lipid accumulation were measured by oil red O staining method. Results In JAZF1-transfected adipocytes, JAZF1 mRNA and protein levels were significantly higher than control cells after 48 h. The mRNA level of HSL was increased significantly (P<0. 05) in JAZF1 transfection group compared with negative control and empty vector group, and the expressions of FAS, ACC, SREBP1 mRNA were decreased significantly(all P<0.01). However, the mRNA levels of ATGL, GLUT1, GLUT4 were not changed. Intracelluar lipid accumulation was decreased significantly (P<0.05 ) by oil red O staining and colorimetric in JAZF1 -transfected cells compared with negative control and empty vector group. Conclusions There was an extensive expression of JAZF1 in various tissues of C57BL/6J mice,indicating that JAZF1 might play a role in maintaining normal physiological function. These results show that overexpression of JAZF1 in 3T3-L1 cells can reduce lipid synthesis, increase lipolysis, and improve lipid accumulation. JAZF1 might provide a new potential therapeutic target for obesity and diabetes.