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SETBP1 dysregulation in congenital disorders and myeloid neoplasms.

ABSTRACT: Myeloid malignancies are characterized by an extreme molecular heterogeneity, and many efforts have been made in the past decades to clarify the mechanisms underlying their pathogenesis. In this scenario SET binding protein 1 (SETBP1) has attracted a lot of interest as a new oncogene and potential marker, in addition to its involvement in the Schinzel-Giedon syndrome (SGS). Our review starts with the analysis of the structural characteristics of SETBP1, and extends to its corresponding physiological and pathological functions. Next, we describe the prevalence of SETBP1 mutations in congenital diseases and in hematologic malignancies, exploring how its alterations might contribute to tumor development and provoke clinical effects. Finally, we consider to understand how SETBP1 activation could be exploited in molecular medicine to enhance the cure rate.

SUBMITTER: Coccaro N

PROVIDER: S-EPMC5584301 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature

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SETBP1 dysregulation in congenital disorders and myeloid neoplasms.

Coccaro Nicoletta N Tota Giuseppina G Zagaria Antonella A Anelli Luisa L Specchia Giorgina G Albano Francesco F

Oncotarget 20170419 31

Myeloid malignancies are characterized by an extreme molecular heterogeneity, and many efforts have been made in the past decades to clarify the mechanisms underlying their pathogenesis. In this scenario SET binding protein 1 (SETBP1) has attracted a lot of interest as a new oncogene and potential marker, in addition to its involvement in the Schinzel-Giedon syndrome (SGS). Our review starts with the analysis of the structural characteristics of SETBP1, and extends to its co ...[more]

PMID: 28881700

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Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.

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