JAK2S523L, a novel gain-of-function mutation in a critical autoregulatory residue in JAK2V617F2 MPNs

Friederike Pastore, Aishwarya Krishnan, Henrik M. Hammaren, Olli Silvennoinen, Benedict Yan, Ross L. Levine

Tutkimustuotos: ArtikkeliScientificvertaisarvioitu

1 Sitaatiot (Scopus)

Abstrakti

The SH2-JH2 linker domain of JAK2 has been implicated in the negative regulation of JAK2 activity. In 2 patients with myeloproliferative neoplasms (MPNs), we identified and characterized the novel JAK2 mutation S523L, which occurs in a key residue in the linker region. In 1 case, acquisition of JAK2S523L was associated with thrombocytosis and bone marrow megakaryocytic hyperplasia, and there were no other somatic alterations in this patient. The second patient with JAK2S523L mutation presented with increased hematocrit and had concurrent mutations in RUNX1 and BCORL1. Consistent with the genetic and clinical data, expression of JAK2S523L causes interleukin-3-independent growth in Ba/F3 cells transduced with the erythropoietin receptor by constitutively active Jak2/Stat5 signaling.

AlkuperäiskieliEnglanti
Sivut4554-4559
Sivumäärä6
JulkaisuBlood Advances
Vuosikerta4
Numero18
DOI - pysyväislinkit
TilaJulkaistu - 2020
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä

Julkaisufoorumi-taso

  • Jufo-taso 1

Sormenjälki

Sukella tutkimusaiheisiin 'JAK2S523L, a novel gain-of-function mutation in a critical autoregulatory residue in JAK2V617F2 MPNs'. Ne muodostavat yhdessä ainutlaatuisen sormenjäljen.

Siteeraa tätä