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

Autor: Alessandro Beghini, Livia Leuzzi, Nazanin Abazari, Luca E. Bossi, Valentina Guido, Alessandra Trojani, Roberto Cairoli
Přispěvatelé: Beghini, A, Leuzzi, L, Abazari, N, Bossi, L, Guido, V, Trojani, A, Cairoli, R
Rok vydání: 2022
Předmět:
Zdroj: Hematological Oncology. 40:1109-1112
ISSN: 1099-1069
0278-0232
DOI: 10.1002/hon.3023
Popis: 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.
Databáze: OpenAIRE
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