SETBP1 in Myeloid Malignancies—Putting Breadcrumbs Together in Rare, Uncommon, and Common Pediatric Cases

Abstract

In resource-constraint settings, genetic testing is rarely available for patients. We report the association of SETBP1, a major oncogene of interest in myeloid malignancies, with juvenile myelomonocytic leukemia (JMML) and with GATA 1 mutation. The modulating role of SETBP1 in Rat sarcoma virus (RAS)-driven myeloid malignancies, especiallyJMML, is unknown. In vivo and in vitro studies point to the role of SETBP1 in aggressive leukemogenesis. 1 SETBP1 mutation is not considered the primary event. 2 The association of SETBP1 with RAS and PTPN11, protein tyrosine phosphatase nonreceptor type 11 (PTPN11) confers both self-renewal and oncogenic transformation. The outcome of SETBP1 with confounding mutations like PTPN11 and interlinked path-ways of Mitogen-activated