Concomitant isochromosome 17q and mutated SETBP1 in a myelodysplastic syndrome patient with a poor prognosis

Abstract

We describe a novel case of simultaneous karyotypic abnormality of isochromosome 17q [i(17)(q10)/i(17q)] and a molecular aberration of mutated SETBP1 in a myelodysplastic syndrome (MDS) patient with a poor prognosis. A 61-year-old Chinese man was admitted to the Hospital of Lanzhou University for evaluation of pancytopenia. Based on bone marrow studies, he was diagnosed with MDS-RCMD (2008 WHO classification)/MDS-MLD (2016 WHO classification). The karyotype abnormality was isochromosome 17q, and the molecular aberration was a SETBP1 mutation. Isochromosome 17q and mutation of SETBP1 have each been reported as rare; i(17)(q10), as a single anomaly, was included in the intermediate risk category, and the SETBP1 mutation is an independent poor prognostic factor. To our knowledge, this is a novel report of concurrent i(17)(q10) and mutated SETBP1 in an MDS patient with a poor prognosis. In this case, there are four other genes (EZH2, SF3B1, AXSL1, and RUNX1) that have different influences and may be new diagnostic markers or new therapy targets for MDS.

Keywords: Myelodysplastic syndrome; SETBP1; gene mutations; isochromosome 17q; prognostic.