Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F- and MPLW515 L-positive myelofibrosis.
Adolescent
Adult
Aged
Aged, 80 and over
Exons
Female
Genetic Association Studies
Genomics
High-Throughput Nucleotide Sequencing
/ methods
Humans
Janus Kinase 2
/ genetics
Male
Middle Aged
Mutation
Myeloproliferative Disorders
/ genetics
Phenotype
Polymorphism, Single Nucleotide
Primary Myelofibrosis
/ genetics
Receptors, Thrombopoietin
/ genetics
JAK2 mutation
MPL mutation
germline mutations
myelofibrosis
noncanonical mutations
somatic mutations
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
31
12
2018
revised:
29
04
2019
accepted:
23
05
2019
pubmed:
29
5
2019
medline:
15
2
2020
entrez:
29
5
2019
Statut:
ppublish
Résumé
Sequential genotyping for phenotype-driver mutations in JAK2 (exon 14), CALR (exon 9), and MPL (exon 10) is recommended in patients with myeloproliferative neoplasms. Yet, atypical JAK2- and MPL-mutations were described in some triple-negative patients. Whether noncanonical and/or concomitant JAK2- and MPL-mutations exist in myelofibrosis (MF) regardless of phenotype-driver mutations is not yet elucidated. For this, next-generation sequencing (NGS) was performed using blood genomic DNA from 128 MF patients (primary MF, n = 93; post-ET-MF, n = 18; post-PV-MF, n = 17). While no atypical JAK2- or MPL-mutations were seen in 24 CALR-positive samples, two JAK2-mutations [c.3323A > G, p.N1108S; c.3188G > A, p.R1063H] were detected in two of the 21 (9.5%) triple-negative patients. Twelve of the 82 (14.6%) JAK2V617F-positive cases had coexisting germline JAK2-mutations [JAK2R1063H, n = 6; JAK2R893T, n = 1; JAK2T525A, n = 1] or at least one somatic MPL-mutation [MPLY591D, n = 3; MPLW515 L, n = 2; MPLE335K, n = 1]. Overall, MPL-mutations always coexisted with JAK2V617F and/or other MPL-mutations. None of the JAK2V617F plus a second JAK2-mutation carried a TET2-mutation but all patients with JAK2V617F plus an MPL-mutation harbored a somatic TET2-mutation. Four genomic clusters could be identified in the JAK2V617F-positive cohort. Cluster-I (10%) (noncanonical JAK2
Substances chimiques
Receptors, Thrombopoietin
0
MPL protein, human
143641-95-6
JAK2 protein, human
EC 2.7.10.2
Janus Kinase 2
EC 2.7.10.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
747-755Informations de copyright
© 2019 Wiley Periodicals, Inc.
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