Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.49 (reverse transcriptase)
 31,746 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Endometrial stromal tumors (ESTs), including low-grade endometrial stromal sarcomas (LGESSs) and endometrial stromal nodules (ESNs) of classic histology, exhibit characteristic morphologic features and contain the nonrandom t(7;17)(p15; q21), which results in the fusion of two novel genes, JAZF1 and JJAZ1. ESTs may pose diagnostic challenges when they involve extrauterine sites, present as metastases, or display variant histologic appearances. The aim of this study was to evaluate the frequency of the JAZF1-JJAZ1 gene fusion among primary uterine, metastatic, and primary extrauterine ESTs of various histologic types and its role as a possible diagnostic adjunct. Using a nonnested reverse transcriptase-polymerase chain reaction approach, we assayed for JAZF1-JJAZ1 gene fusion transcripts in 10 cases with available fresh-frozen tissue. These included five primary uterine (two classic, one mixed smooth muscle, and one epithelioid LGESS; one classic ESN), four metastatic (two fibromyxoid, one classic, and one epithelioid LGESS), and one extrauterine (classic LGESS) tumor. The same primer set and assay conditions were used on five additional paraffin-embedded cases with adequate RNA, including three primary uterine (one fibromyxoid and one mixed smooth muscle LGESS; 1 mixed smooth muscle ESN) and two intraabdominal recurrent (two mixed smooth muscle LGESSs) ESTs. Two cellular leiomyomas and one ESS cell line (ESS-1) without the t(7;17) at the cytogenetic level were run in parallel as controls. JAZF1-JJAZ1 gene fusion transcripts were detected in five (33%) of 15 ESTs, including three of eight primary uterine, one of four metastatic, one of one extrauterine, and none of two recurrent cases. Most ESTs of classic histology showed evidence of JAZF1-JJAZ1 fusion (4 of 5 cases), whereas only one mixed smooth muscle ESN of 10 variant cases was positive. Positivity for JAZF1-JJAZ1 fusion transcripts was found in four of 10 fresh-frozen samples and in one of five paraffin-embedded ESTs. The control specimens were all negative. In conclusion, our data suggest that ESTs are genetically heterogeneous, with the prevalence of the JAZF1-JJAZ1 fusion being highest among ESTs of classic histology. Hence, the diagnostic utility of a JAZF1-JJAZ1 fusion transcript assay in ESTs may be limited to the classic histologic subset.
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PMID:Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity. 1504 12

Endometrial stromal tumors are rare uterine neoplasms including benign stromal nodules, low-grade endometrial stromal sarcomas (ESS), and undifferentiated endometrial sarcomas (UES), the latter representing the most aggressive form. Morphological characteristics and cytogenetic abnormalities are heterogeneous, making diagnosis difficult. Recently, a gene fusion on chromosome 7 that includes two zinc-finger genes (JAZF1 and JJAZ1) has been discovered in these tumors. Hitherto only 31 cases, described by three different research groups, have shown JAZF1/JJAZ1 fusion in approximately 50% of all analyzed low-grade ESSs whereas it is less frequent in UESs. In this study we analyzed 20 ESS and 2 UES cases using two-step reverse transcriptase-polymerase chain reaction optimized for formalin-fixed, paraffin-embedded tissue. In our subset of samples, the JAZF1/JJAZ1 fusion transcript occurred in 80% of analyzed ESS cases and in none of two UES cases. In comparison to published data, our results identified the JAZF1/JJAZ1 gene fusion more frequently in endometrial stromal tumors than hitherto presumed. This cytogenetic abnormality was not present in normal endometria, leiomyomas, or leiomyosarcomas or in lung, gastric, or hepatic carcinomas, indicating its specificity for endometrial stromal tumors. In combination with other established methods, accurate reverse transcriptase-polymerase chain reaction analysis of JAZF1/JJAZ1 gene fusion may be useful in diagnosing difficult or unusual ESS/UES cases.
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PMID:JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue. 1604 11

Nonrandom cytogenetic abnormalities of chromosomes 6, 7, and 17 have been reported within low-grade endometrial stromal sarcomas (LGESSs), and among these abnormalities, the t(7;17)(p15;q21) is the most common aberration described. Previously we had shown that this translocation joins 2 genes, JAZF1 and JJAZ1, located on chromosomes 7 and 17, respectively. To determine the frequency of the t(7;17), we analyzed 4 stromal nodules and 24 LGESS by both reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization (FISH). In addition, we examined 4 cases of highly cellular leiomyoma, a benign morphologic mimic of LGESS. Overall, evidence for the JAZF1-JJAZ1 fusion was found in 60% of endometrial stromal neoplasms analyzed (8/16 ESS and 4/4 stromal nodules). One LGESS demonstrated only rearrangement of 7p15 by FISH analysis and karyotypic analysis of this case showed t(6;7)(p21;p15). The fusion was not detected in any highly cellular leiomyomas. Our data suggest that the JAZF1-JJAZ1 fusion is a frequent, although nonuniform, feature of endometrial stromal neoplasia, irrespective of benign versus malignant classification and smooth muscle differentiation. In addition, the detection of the fusion by reverse transcriptase-polymerase chain reaction or FISH for JJAZ1 at 7p15 may be diagnostically useful.
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PMID:Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. 1719 20

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare uterine neoplasm composed predominantly or exclusively of cells which resemble those seen in sex cord tumors of the ovary. Since its initial morphologic description, it has been unclear whether UTROSCT represents a variant within the spectrum of endometrial stromal tumors (ESTs), which may rarely exhibit areas of sex cord-like differentiation, or whether it is a distinct uterine neoplasm unrelated to ESTs. Recently, several studies have revealed a recurrent t(7;17) translocation resulting in a JAZF1-JJAZ1 gene fusion in over 60% of EST and its variants, including 2 out of 4 endometrial stromal tumors with sex cord-like elements (ESTSCLE). We examined UTROSCTs for evidence of the JAZF1-JJAZ1 gene fusion by fluorescence in situ hybridization and by reverse transcriptase polymerase chain reaction in 24 and 20 cases, respectively. The JAZF1-JJAZ1 gene fusion was not identified in any tumor by either method. Although we cannot entirely exclude that UTROSCT represents a variant of ESTSCLE which lacks this translocation, our findings suggest that UTROSCT does not share the genetic mechanism common to the majority of ESTs with or without sex cord-like differentiation, and therefore most likely represents a distinct neoplasm unrelated to ESTSCLE.
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PMID:Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors. 1954 72

Endometrial stromal sarcoma predominantly occurs as a primary tumor of the uterus. The most common cytogenetic abnormality in these tumors is t(7;17)(p15;q21), which occurs in 33% to 80% of cases and results in a JAZF1-JJAZ1 gene fusion. Rare cases of primary extrauterine endometrial stromal sarcoma have been reported, but it remains uncertain whether the genetic features of uterine endometrial stromal sarcoma are also characteristic of extrauterine tumors. The present study evaluates the prevalence of the t(7;17)(p15;q21) and JAZF1-JJAZ1 gene fusion in a series of 6 cases of primary extrauterine endometrial stromal sarcoma. Conventional nested reverse transcriptase-polymerase chain reaction was performed using primers complementary to sense and antisense JAZF1 and JJAZ1 sequences. Interphase fluorescence in situ hybridization was performed to detect t(7;17)(p15;q21) using a break-apart strategy for both JAZF1 and JJAZ1. In one of the 6 extrauterine endometrial stromal sarcoma cases, JAZF1-JJAZ1 fusion transcripts were detected by reverse transcriptase-polymerase chain reaction. The same case showed evidence of both JAZF1 and JJAZ1 rearrangements by interphase fluorescence in situ hybridization. The remaining 5 cases were negative for the t(7;17)(p15;q21) by both reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization analysis. These findings demonstrate that the t(7;17)(p15;q21) and associated JAZF1-JJAZ1 fusion transcripts are present in only a subset of primary extrauterine endometrial stromal sarcoma. Although molecular testing for the t(7;17)(p15;q21) and associated gene fusion may be useful for confirming primary extrauterine endometrial stromal sarcoma, the low prevalence of the genetic aberration limits the clinical utility of the testing.
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PMID:JAZF1 and JJAZ1 gene fusion in primary extrauterine endometrial stromal sarcoma. 2131 79