NUTM2A, NUT family member 2A, 728118

N. diseases: 14; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.360 AlteredExpression disease BEFREE An Unusual Case of YWHAE-NUTM2A/B Endometrial Stromal Sarcoma With Confinement to the Endometrium and Lack of High-Grade Morphology. 27171540 2017
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.360 FusionGene disease ORPHANET Endometrial stromal tumors: the new WHO classification. 25299308 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.360 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
0.360 GeneticVariation disease BEFREE Conversely, oncogenic t(10;17)(q22;p13) translocation yields YWHAE-FAM22A/B chimeric proteins that are associated with histologically high-grade and clinically more aggressive ESS. 23959973 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.360 GeneticVariation disease BEFREE A subset of endometrial stromal sarcoma harbors t(10;17)(q23;p13), which results in the genetic fusion between YWHAE and 1 of 2 highly homologous FAM22 family members-FAM22A or FAM22B. 23159154 2013
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.360 GeneticVariation disease BEFREE We recently identified a novel genetic fusion between YWHAE and FAM22A/B in ESS harboring t(10;17)(q22;p13) and herein describe the clinicopathologic features of 13 YWHAE-FAM22 ESS cases (11 primary and 3 metastatic) and compare them with 20 ESS cases with JAZF1 rearrangement. 22456610 2012
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.360 FusionGene disease ORPHANET Fluorescence in situ hybridization analysis demonstrated absolute specificity of YWHAE-FAM22A/B genetic rearrangement for high-grade ESS, with no fusions detected in other uterine and nonuterine mesenchymal tumors (55 tumor types, n = 827). 22223660 2012
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.360 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: C1261473
Disease: Sarcoma
Sarcoma
0.020 GeneticVariation group BEFREE We recognized the tumor as a genetically distinct variant of CIC-rearranged sarcomas with a novel NUTM2A-CIC fusion. 28188754 2017
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.020 GeneticVariation group BEFREE We recognized the tumor as a genetically distinct variant of CIC-rearranged sarcomas with a novel NUTM2A-CIC fusion. 28188754 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.020 Biomarker group BEFREE Recently, a fusion between the YWHAE and FAM22A/B genes subsequent to a t(10;17) (q22;p13) has been described in endometrial sarcomas with high-grade histology. 23599159 2013
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.020 Biomarker group BEFREE Recently, a fusion between the YWHAE and FAM22A/B genes subsequent to a t(10;17) (q22;p13) has been described in endometrial sarcomas with high-grade histology. 23599159 2013
CUI: C1334699
Disease: Mesenchymal Cell Neoplasm
Mesenchymal Cell Neoplasm
0.010 Biomarker disease BEFREE YWHAE-NUTM2A/B translocated high-grade endometrial stromal sarcoma is an uncommon and clinically aggressive uterine mesenchymal neoplasm which is sometimes associated with a low-grade fibromyxoid component. 30252726 2019
Endometrial stromal sarcoma, high grade
0.010 Biomarker disease BEFREE Pathologists should be aware that YWHAE-NUTM2A/B translocated high-grade endometrial stromal sarcoma is commonly positive with CD56 and CD99; as well as potentially assisting in diagnosis, positivity with these markers may also result in consideration of other neoplasms in the differential diagnosis. 30252726 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation group BEFREE We recognized the tumor as a genetically distinct variant of CIC-rearranged sarcomas with a novel NUTM2A-CIC fusion. 28188754 2017
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma
0.010 GeneticVariation disease BEFREE YWHAE-rearranged high-grade endometrial stromal sarcoma (HG-ESS) is a rare, recently defined uterine sarcoma harboring t(10;17)(q22;p13) resulting in YWHAE-NUTM2A/B fusion. 28390819 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE We report a case of YWHAE-NUTM2A/B ESS in a 46-yr-old woman that showed a number of unusual histologic features, including being entirely confined to the endometrium with no myoinvasion or lymphovascular space invasion. 27171540 2017
CUI: C3899764
Disease: CIC-DUX Sarcoma
CIC-DUX Sarcoma
0.010 GeneticVariation disease BEFREE NUTM2A-CIC fusion small round cell sarcoma: a genetically distinct variant of CIC-rearranged sarcoma. 28188754 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation group BEFREE Sanger sequencing analysis (exons 9, 11, 13 and 17) and Ampliseq Cancer Panel mutation screen (Ion Torrent) demonstrated no KIT mutations in three KIT-positive YWHAE-NUTM2A/B tumors. 24186140 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation phenotype 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation group BEFREE Sanger sequencing analysis (exons 9, 11, 13 and 17) and Ampliseq Cancer Panel mutation screen (Ion Torrent) demonstrated no KIT mutations in three KIT-positive YWHAE-NUTM2A/B tumors. 24186140 2014
CUI: C1336899
Disease: Uterine Angiosarcoma
Uterine Angiosarcoma
0.010 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
Uterine Corpus High Grade Endometrial Stromal Sarcoma
0.010 GeneticVariation disease BEFREE Fluorescence in situ hybridization analysis demonstrated absolute specificity of YWHAE-FAM22A/B genetic rearrangement for high-grade ESS, with no fusions detected in other uterine and nonuterine mesenchymal tumors (55 tumor types, n = 827). 22223660 2012