2012
DOI: 10.1158/2159-8290.cd-12-0028
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Janus Kinase 3–Activating Mutations Identified in Natural Killer/T-cell Lymphoma

Abstract: The molecular pathogenesis of natural killer/T-cell lymphoma (NKTCL) is not well understood. We conducted whole-exome sequencing and identifi ed Janus kinase 3 (JAK3) somatic-activating mutations (A572V and A573V) in 2 of 4 patients with NKTCLs. Further validation of the prevalence of JAK3 mutations was determined by Sanger sequencing and high-resolution melt (HRM) analysis in an additional 61 cases. In total, 23 of 65 (35.4%) cases harbored JAK3 mutations. Functional characterization of the JAK3 mutations sup… Show more

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Cited by 243 publications
(246 citation statements)
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References 30 publications
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“…14,[16][17][18] In the current study, we identified the same activating JAK3 mutation in an MF tumor evaluated with WGS and a CTCL line. Ultra-deep sequencing of an additional 25 MF samples revealed very low allele frequencies of known activating JAK3 mutations in 5 samples that we were unable to validate.…”
Section: Discussionmentioning
confidence: 69%
See 1 more Smart Citation
“…14,[16][17][18] In the current study, we identified the same activating JAK3 mutation in an MF tumor evaluated with WGS and a CTCL line. Ultra-deep sequencing of an additional 25 MF samples revealed very low allele frequencies of known activating JAK3 mutations in 5 samples that we were unable to validate.…”
Section: Discussionmentioning
confidence: 69%
“…The Janus kinase (JAK)-signal transducer and activator of transcription (STAT) pathways, integral to interleukin-2 (IL-2) signaling and cellular proliferation, can be deregulated in MF and CTCL, including increased and constitutive phosphorylation of STAT3 and STAT5. [13][14][15] Activating mutations were identified in natural killer (NK)/T-cell malignancies 16 and adult T-cell leukemia/lymphoma (ATLL). 17 Additionally, an activating JAK3 mutation (A572V) was identified in 1 of 10 MF patient samples.…”
Section: Introductionmentioning
confidence: 99%
“…Two recent studies reported the presence of JAK3 A572V, A573V or V722I mutations in NKTCLs 6,7 . However, neither WTS nor hotspot sequencing of 40 NKTCL cases revealed these SNVs, consistent with a recent report 8 .…”
Section: Resultsmentioning
confidence: 99%
“…[18][19][20] Mutational profiles in other subtypes of EBV + T-and NK-cell LPDs will be necessary to translate these discoveries for diagnostic purposes. It is hoped that clinically well-annotated cohorts, such as that described by Kawamoto et al, will be used to define molecular profiles in future studies.…”
Section: Ebv-associated Hemophagocytic Lymphohistiocytosis (Hlh)mentioning
confidence: 99%