Blood Adv 2017 Dec 18;1(27):2724-2728. Epub 2017 Dec 18.
Institute for Cancer Outcomes and Survivorship, School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
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Genes Chromosomes Cancer 2014 Apr 21;53(4):309-16. Epub 2014 Jan 21.
Institute for Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany; Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
T-cell prolymphocytic leukemia (T-PLL) is an aggressive post-thymic T-cell malignancy characterized by the recurrent inv(14)(q11q32)/t(14;14)(q11;q32) or t(X;14)(q28;q11) leading to activation of either the TCL1 or MTCP1 gene, respectively. However, these primary genetic events are insufficient to drive leukemogenesis. Recently, activating mutations in JAK3 have been identified in other T-cell malignancies. Read More
Blood 2014 Aug 13;124(9):1460-72. Epub 2014 May 13.
Department of Pathology, University of Michigan Medical School, Ann Arbor, MI;
The comprehensive genetic alterations underlying the pathogenesis of T-cell prolymphocytic leukemia (T-PLL) are unknown. To address this, we performed whole-genome sequencing (WGS), whole-exome sequencing (WES), high-resolution copy-number analysis, and Sanger resequencing of a large cohort of T-PLL. WGS and WES identified novel mutations in recurrently altered genes not previously implicated in T-PLL including EZH2, FBXW10, and CHEK2. Read More
Am J Pathol 2017 May 9;187(5):980-986. Epub 2017 Mar 9.
Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Inhibition of the Janus kinase (JAK)-STAT pathway has been implicated as a treatment option for extranodal natural killer/T-cell lymphoma, nasal type (NTCL). However, JAK-STAT pathway alterations in NTCL are variable, and the efficacy of JAK-STAT pathway inhibition has been poorly evaluated. JAK3 mutation and STAT3 genetic alterations were investigated by direct sequencing and immunohistochemistry in 84 patients with newly diagnosed NTCL. Read More
Leukemia 1994 Apr;8(4):564-73
Department of Cancer Studies, University of Birmingham, UK.
A t(X;14)(q28;q11) translocation was present for many years in T cells in two patients with ataxia telangiectasia (A-T), who subsequently developed T-prolymphocytic leukemia. We describe here the relationship between the translocation breakpoints in these patients with respect to two recently described genes, c6.1A and c6. Read More