STAT3 gene mutations and their association with pure red cell aplasia in large granular lymphocyte leukemia

Cancer Science
Fumihiro IshidaYok-Lam Kwong

Abstract

Large granular lymphocyte leukemia (LGL L) has been morphologically characterized as a group of lymphoproliferative diseases that include T-cell large granular lymphocytic leukemia (T-LGL L) and chronic lymphoproliferative disorders of natural killer cells (CLPD-NK). We investigated mutations in the Src homology 2 (SH2) domain of the signal transducer and activator of transcription 3 (STAT3) gene in Asian cohorts of T-LGL L and CLPD-NK (n = 42 and 11, respectively). Two mutations, Y640F and D661Y, were identified using direct sequencing or allele-specific (AS) PCR. Y640F and D661Y mutations were found in seven and 18 patients, respectively. Two patients were positive for both mutations. Frequencies of STAT3 mutations in T-LGL L and CLPD-NK were 47.6% and 27.2%, respectively. Pure red cell aplasia (PRCA) was associated with the mutations (P = 0.005). The mutations were persistently found at stable levels in some patients after more than 5 years using AS-quantitative PCR. The results of the present study indicate that the SH2 domain of the STAT3 gene is frequently mutated in Asian T-LGL L and CLPD-NK, and that PRCA is closely correlated with the mutations.

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Citations

Aug 1, 2014·Current Hematologic Malignancy Reports·Lukasz P Gondek, Amy E DeZern
Jan 15, 2015·Annual Review of Medicine·John J O'SheaArian Laurence
Feb 28, 2016·Brain : a Journal of Neurology·Steven A GreenbergDavid M Dorfman
May 22, 2016·Autoimmunity·Mark Plander, Bernadette Kalman
Feb 9, 2018·Cancer Science·Nahid ShahmarvandRobert S Ohgami
May 17, 2018·Acta Biochimica Et Biophysica Sinica·Xinchao ZhangWeiwei Shen
Nov 23, 2017·Scientific Reports·Raffaele MoriJan Tavernier
Oct 20, 2018·Blood Advances·Toru KawakamiFumihiro Ishida
Oct 6, 2017·Oncotarget·Antonella TeramoRenato Zambello
Nov 14, 2019·Cancers·Elvin D de AraujoPatrick T Gunning
Mar 7, 2020·Frontiers in Oncology·Antonella TeramoRenato Zambello
Jan 28, 2021·Scientific Reports·Naohito FujishimaMakoto Hirokawa
Mar 4, 2021·Blood·Carmelo Gurnari, Jaroslaw P Maciejewski
May 28, 2021·The New England Journal of Medicine·Satu Mustjoki, Neal S Young

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Methods Mentioned

BETA
blood drawn
PCR
MDS

Software Mentioned

JMP

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