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. 2015 May;169(3):445-8.
doi: 10.1111/bjh.13211. Epub 2014 Nov 10.

Identification of recurrent truncated DDX3X mutations in chronic lymphocytic leukaemia

Juhi Ojha  1 , Charla R Secreto, Kari G Rabe, Daniel L Van Dyke, Klaus M Kortum, Susan L Slager, Tait D Shanafelt, Rafael Fonseca, Neil E Kay, Esteban Braggio
Affiliations

Identification of recurrent truncated DDX3X mutations in chronic lymphocytic leukaemia

Juhi Ojha et al. Br J Haematol. 2015 May.
No abstract available

Keywords: DDX3X; chronic lymphocytic leukaemia; genomics; targeted sequencing; tumour suppressor gene.

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Conflict of interest statement

Conflict of interest

The remaining authors have no conflicts of interest to disclose.

Figures

Fig 1
Fig 1
Genomic landscape in a cohort of untreated active CLL. (A) Prevalence of mutations in 24 genes in unmutated (U-CLL) and mutated (M-CLL) IGHV CLL cases. (B) Upper left panel: Heatmap of mutations in CLL cohort. Horizontal rows depict mutations in a particular gene and vertical columns represent individual patients. Black, dark grey and light grey closed boxes show the mutation status as clonal (more than 90%), subclonal (present in 10–90%) and small subclonal (present in <10%) allelic fractions, respectively. Solid black vertical line differentiates the cases with no progression after therapy (left side) and cases that progressed after therapy (right side). Upper right panel: Mutation prevalence. Black, dark grey and light grey closed boxes represent the percentage of missense mutations, nonsense mutations and frameshift indels, respectively. Lower left panel: Copy-number aberrations in the six most commonly affected chromosomal regions. Horizontal rows depict particular aberration and vertical columns represent individual patients. Lower right panel: Copy number abnormality prevalence. For lower panel (left and right), black, dark grey and light grey closed boxes represent biallellic deletion, monoallellic deletion and monoallelic gain, respectively. (C) Clonal status of mutated genes. Horizontal axis represents genes mutated in three or more cases and vertical axis represents allelic frequency distribution mutation in genes in cohort. Each dot represents a case and horizontal solid black line is the median allelic fraction affected per mutations in the particular gene.
Fig 2
Fig 2
Characterization of somatic mutations in DDX3X. (A) Location and type of somatic mutations found in DDX3X. (B) Two independent DDX3X mutations affecting different subclones were found in two cases. Allelic frequency of each mutation in sequential samples is denoted by black and grey lines. X-axis denotes disease progression in months. Y-axis denotes allelic frequency. (C) Protein expression level of DDX3X and GAPDH in cases with DDX3X mutation (CLL01, CLL03, CLL33 Baseline and Relapse) and controls with wild type DDX3X (CLL21 and CLL34). (D) Association of DDX3X mutation and clinical variables. Vertical axis shows % cases with DDX3X mutation.
See this image and copyright information in PMC

References

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