Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE Tumors with YWHAE-NUTM2 fusions and BCOR genetic abnormalities showed morphology characteristic of high-grade endometrial stromal sarcomas. 30789359 2019
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE In an update based on the 2014 WHO classification, low-grade ESS is often associated with gene rearrangement bringing about the JAZF 1-SUZ12 (formerly JAZF1-JJAZ1) fusion gene, whereas high-grade ESS is associated with the YWHAE-NUTM fusion gene. 29660202 2018
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE A 40 year old woman was diagnosed with metastatic YWHAE-FAM22 translocated endometrial stromal sarcoma. 29357824 2018
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE Endometrial stromal sarcoma (ESS) characterized by YWHAE-NUTM2A/B genetic fusion is a recently recognized entity that is classified as a high-grade (HG) ESS in the 2014 World Health Organization Classification. 27171540 2017
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE Strong diffuse nuclear BCOR staining (defined as >95% of tumor cells) was seen in the round cell component of all 20 (100%) classic YWHAE-NUTM2 high-grade endometrial stromal sarcomas and the 3 unusual high-grade endometrial stromal sarcomas which prompted FISH studies confirming YWHAE rearrangement in 2 tumors. 28621321 2017
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE Not all HG tumors showed a YWHAE-NUTM chimeric transcript and as many as six LGESS showed no hitherto known ESS-related fusions. 27219024 2016
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE We applied an NGS-based fusion transcript detection assay (Archer FusionPlex Sarcoma Panel) that targets YWHAE and JAZF1 fusions in a series of low-grade ESSs (n = 11) and high-grade ESSs (n = 5) that were previously confirmed to harbour genetic rearrangements by fluorescence in-situ hybridization (FISH) and/or reverse transcription polymerase chain reaction (RT-PCR) analyses. 26990025 2016
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE There were no clinical features able to recognize YWHAE-NUTM2 ESS. 25244606 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE Endometrial stromal sarcomas (ESSs) frequently harbor genetic fusions, including JAZF1-SUZ12 and equivalent fusions in low-grade ESS (LGESS) and YWHAE-NUTM2 in high-grade ESS (HGESS). 25288234 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE The ESTs that show higher grade atypia but lack nuclear pleomorphism include YWHAE-FAM22 ESS.Here we report an unusual case of ESTs. 24750188 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 FusionGene disease ORPHANET Endometrial stromal tumors: the new WHO classification. 25299308 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE The chimeric transcripts described in endometrial stromal sarcomas (ESS) are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67, and recombinations of PHF1 with JAZF1, EPC1, and MEAF6. 24530230 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE Gene expression profiles of seven ESS (including three with YWHAE and two with JAZF1 rearrangements) and four UES without specific chromosomal aberrations indicated clustering of tumors with MBTD1-CXorf67 fusion together with low-grade JAZF1-associated ESS. 23959973 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which are known to be associated with oncogenesis of endometrial stromal sarcoma, may contribute to the development of uterine angiosarcoma. 24125656 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 AlteredExpression disease BEFREE Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement. 24186140 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE The reverse transcription-polymerase chain reaction assay optimized for formalin-fixed and paraffin-embedded samples detected YWHAE-FAM22 fusion transcripts in all 6 YWHAE-FAM22 endometrial stromal sarcomas and none of the 24 non-YWHAE-FAM22 uterine sarcomas. 23159154 2013
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE We examined YWHAE rearrangements by FISH break-apart and RT-PCR in a series of 27 undifferentiated uterine stromal sarcoma without JAZF1 rearrangements. 23599159 2013
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE Tumors with YWHAE-FAM22 rearrangements constitute a distinct group of ESS, which is associated with high-grade morphology and aggressive clinical behavior compared to JAZF1 ESS. 22456610 2012
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 Biomarker disease BEFREE YWHAE-FAM22 fusion gene knockdowns were performed with shRNAs and siRNAs targeting various FAM22A exons in an t(10;17)-bearing ESS cell line (ESS1): Fusion protein expression was inhibited, with corresponding reduction in cell growth and migration. 22223660 2012
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 FusionGene disease ORPHANET 14-3-3 fusion oncogenes in high-grade endometrial stromal sarcoma. 22223660 2012
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE Immunohistochemically, the high-grade round cell component of all 12 YWHAE-FAM22 ESS demonstrated diffuse (≥70%) moderate to strong nuclear cyclin D1 staining, and this diffuse positivity was not seen in 34 ESSs with JAZF1 and equivalent genetic rearrangements or in 21 low-grade ESS with no demonstrable genetic rearrangements. 22982899 2012