The ever-increasing advances in high-throughput sequencing have broadened our understanding of the genetic pathogenesis of Philadelphia-negative myeloproliferative neoplasms (MPNs). Convergent studies have shown that MPN driver mutations associate with additional mutations found in genes coding for negative regulators of the JAK/STAT signaling, including the SH2B3 (SH2B-adaptor protein 3, also known as LNK). Here, we describe a novel heterozygous start-loss mutation of the SH2B3 gene (c.3G>A, SH2B3M?) in a consanguineous family characterized by recurrent early onset of JAK2V617F-positive MPNs. The model represented by this pedigree suggests that the SH2B3 could be a predisposing mutation that facilitates the acquisition of driver mutations.

A novel start‐loss mutation of the SH2B3 gene in a family with myeloproliferative neoplasms / A. Beghini, L. Leuzzi, N. Abazari, L.E. Bossi, V. Guido, A. Trojani, R. Cairoli. - In: HEMATOLOGICAL ONCOLOGY. - ISSN 0278-0232. - (2022 May 16). [Epub ahead of print] [10.1002/hon.3023]

A novel start‐loss mutation of the SH2B3 gene in a family with myeloproliferative neoplasms

A. Beghini
Primo
Writing – Review & Editing
;
L. Leuzzi;N. Abazari;
2022-05-16

Abstract

The ever-increasing advances in high-throughput sequencing have broadened our understanding of the genetic pathogenesis of Philadelphia-negative myeloproliferative neoplasms (MPNs). Convergent studies have shown that MPN driver mutations associate with additional mutations found in genes coding for negative regulators of the JAK/STAT signaling, including the SH2B3 (SH2B-adaptor protein 3, also known as LNK). Here, we describe a novel heterozygous start-loss mutation of the SH2B3 gene (c.3G>A, SH2B3M?) in a consanguineous family characterized by recurrent early onset of JAK2V617F-positive MPNs. The model represented by this pedigree suggests that the SH2B3 could be a predisposing mutation that facilitates the acquisition of driver mutations.
SH2B3; familial myeloproliferative neoplasms; LNK; essential thrombocythemia; primary myelofibrosis; polycythemia vera
Settore BIO/11 - Biologia Molecolare
Settore MED/15 - Malattie del Sangue
16-mag-2022
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/928021
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