Clinicopathologic spectrum of myeloid neoplasms with concurrent myeloproliferative neoplasm driver mutations and SRSF2 mutations.
Journal
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
ISSN: 1530-0285
Titre abrégé: Mod Pathol
Pays: United States
ID NLM: 8806605
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
received:
24
03
2022
accepted:
24
05
2022
revised:
23
05
2022
pubmed:
12
6
2022
medline:
28
10
2022
entrez:
11
6
2022
Statut:
ppublish
Résumé
Myeloproliferative neoplasms (MPNs) are frequently associated with classic driver mutations involving JAK2, MPL or CALR. SRSF2 is among the most frequently mutated splicing genes in myeloid neoplasms and SRSF2 mutations are known to confer a poor prognosis in patients with MPNs. In this study, we sought to evaluate the clinicopathologic spectrum of myeloid neoplasms harboring concurrent MPN-driver mutations and SRSF2 mutations. The study cohort included 27 patients, 22 (82%) men and five (19%) women, with a median age of 71 years (range, 51-84). These patients presented commonly with organomegaly (n = 15; 56%), monocytosis (n = 13; 48%), morphologic dysplasia (n = 11; 41%), megakaryocytic hyperplasia and/or clustering (n = 10; 37%) and bone marrow fibrosis >MF-1 (17/22; 77%). About one third of patients either initially presented with acute myeloid leukemia (AML) or eventually progressed to AML. Eighteen (68%) patients had a dominant clone with SRSF2 mutation and nine (33%) patients had a dominant clone with a classic MPN-associated driver mutation. Our data suggest that the presence of an SRSF2 mutation preceding the acquisition of a MPN driver mutations is not a disease-defining alteration nor is it restricted to any specific disease entity within the spectrum of myeloid neoplasms. In summary, patients with myeloid neoplasms associated with concurrent SRSF2 and classic MPN driver mutations have clinical and morphologic features close to that of classic MPNs often with frequent dysplasia and monocytosis.
Identifiants
pubmed: 35690645
doi: 10.1038/s41379-022-01118-3
pii: S0893-3952(22)00234-4
doi:
Substances chimiques
Janus Kinase 2
EC 2.7.10.2
RNA-Binding Proteins
0
SRSF2 protein, human
147153-65-9
Serine-Arginine Splicing Factors
170974-22-8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1677-1683Informations de copyright
© 2022. The Author(s), under exclusive licence to United States & Canadian Academy of Pathology.
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