SETBP1  dysregulation in congenital disorders and myeloid neoplasms

Nicoletta Coccaro; Giuseppina Tota; Antonella Zagaria; Luisa Anelli; Giorgina Specchia; Francesco Albano

doi:10.18632/oncotarget.17231

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SETBP1 dysregulation in congenital disorders and myeloid neoplasms

Nicoletta Coccaro, Giuseppina Tota, Antonella Zagaria, Luisa Anelli, Giorgina Specchia and Francesco Albano _

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Oncotarget. 2017; 8:51920-51935. https://doi.org/10.18632/oncotarget.17231

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Abstract

Nicoletta Coccaro1, Giuseppina Tota1, Antonella Zagaria1, Luisa Anelli1, Giorgina Specchia1 and Francesco Albano1

1Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, Bari, Italy

Correspondence to:

Francesco Albano, email: [email protected]

Keywords: SETBP1, mutation, oncogene, Schinzel–Giedion syndrome, myeloid neoplasms

Received: February 24, 2017 Accepted: March 30, 2017 Published: April 19, 2017

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.

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Reviews:

SETBP1 dysregulation in congenital disorders and myeloid neoplasms

Abstract