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
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.File | Dimensione | Formato | |
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Hematological Oncology - 2022 - Beghini - A novel start%u2010loss mutation of the SH2B3 gene in a family with myeloproliferative.pdf
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