This tab shows an overview of the selected study/paper [more details]
Reference

Janus Kinase 3-Activating Mutations Identified in Natural Killer/T-cell Lymphoma.

Paper Id
COSP29101
Authors
Koo GC,Tan SY,Tang T,Poon SL,Allen GE,Tan L,Chong SC,Ong WS,Tay K,Tao M,Quek R,Loong S,Yeoh KW,Yap SP,Lee KA,Lim LC,Tan D,Goh C,Cutcutache I,Yu W,Ng CC,Rajasegaran V,Heng HL,Gan A,Ong CK,Rozen S,Tan P,Teh BT and Lim ST
Affiliation
1NCCS-VARI Translational Research Laboratory, Department of Medical Sciences, 2Division of Clinical Trials and Epidemiological Sciences, Departments of 3Medical Oncology and 4Radiation Oncology, National Cancer Centre Singapore; Departments of 5Pathology, 6Hematology, and 7Ear, Nose and Throat, Singapore General Hospital; 8Neuroscience and Behavioral Disorders, 9Cancer and Stem Cell Biology Program, 10Duke-NUS Graduate Medical School Singapore, 11Cancer Science Institute of Singapore, NUS, and 12Genome Institute of Singapore, Singapore.
Journal
Cancer discovery 2012
ISSN:2159-8290
PUBMED:22705984
Abstract
The molecular pathogenesis of natural killer/T-cell lymphoma (NKTCL) is not well understood. We conducted whole-exome sequencing and identified Janus kinase 3(JAK3) somatic-activating mutations (A572V and A573V) in 2 of 4 patients with NKTCLs. Further validation of the prevalence of JAK3mutations 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 JAK3mutations. Functional characterization of the JAK3mutations support its involvement in cytokine-independent JAK/STAT constitutive activation leading to increased cell growth. Moreover, treatment of both JAK3-mutant and wild-type NKTCL cell lines with a novel pan-JAK inhibitor, CP-690550, resulted in dose-dependent reduction of phosphorylated STAT5, reduced cell viability, and increased apoptosis. Hence, targeting the deregulated JAK/STAT pathway could be a promising therapy for patients with NKTCLs.
Paper Status
Curated
Genes Analysed
229
Mutated Samples
25
Total No. of Samples
65
This tab shows genes with mutations in the selected study/paper [more details]
Genes Samples CDS Mutation AA Mutation
This tab shows genes without mutations in the selected study/paper [more details]
Non-Mutant Genes Gene Id (COSG)
This tab shows samples without mutations in the selected study/paper [more details]
Non-Mutant Samples Sample Id (COSS)
This tab shows mutated samples in the selected study/paper [more details]
Sample Name Mutation Count
This tab shows non coding variant in the selected study/paper [more details]
Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq
This tab shows the copy number variation data for this study. Only variants (classified as gain or loss) are listed. [more details]
CNV Gene Sample Position Minor Allele Copy Number Average Ploidy

1. N/A represents cases where average ploidy value is not available( mostly ICGC samples). For some TCGA samples where minor allele information is not available the average ploidy value could not be calculated.

2. For TCGA samples, Ascat algorithm is used to calculate the average ploidy.

3. For CGP samples, Picnic algorithm is used to calculate the average ploidy.

Type
This tab shows a table of count of samples having gain or loss for all genes [more details]
Gene Gain Samples Loss Samples Samples Tested
This tab shows the fusion mutations observed in this sample [more details]
Gene Sample Name Id Sample(COSS) CDS Mutation Somatic status Zygosity Validated Type