Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ETV6 gene on 12p13 is involved in different hematologic malignancies through a variety of chromosomal translocations. Here we report the analysis of a t(10;12)(q24;p13) identified in a patient with myelodysplastic syndrome. Our results show that the t(10;12) results in the generation of an in-frame fusion between ETV6 and GOT1, a gene encoding a cytosolic glutamic-oxaloacetic transaminase enzyme. In addition, two other fusion transcripts involving exons from yet unidentified genes were detected, as well as expression of an uncharacterized gene from the 10q24 region. This work identifies GOT1 as a novel fusion partner of ETV6 in myelodysplastic syndrome.
 ...
PMID:Fusion of ETV6 to GOT1 in a case with myelodysplastic syndrome and t(10;12)(q24;p13). 1675 12

The ETV6/GOT1 fusion, resulting from t(10;12) (q24;p13), has been recently described in a myelodysplastic syndrome. We reported a second case of t(10;12)-positive myelodysplastic syndrome in whom fluorescent in situ hybridization confirmed the non-random translocation but molecular biology analyses revealed a ETV6/GOT1 chimera varying from the first case described.
 ...
PMID:ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome. 1831 May 41