Reviews:
SETBP1 dysregulation in congenital disorders and myeloid neoplasms
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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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