The GNAS1 T393C polymorphism and lack of clinical prognostic value in chronic lymphocytic leukemia

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Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease with no known single predisposing genetic factor shown in all cases. Recently, a single nucleotide polymorphism (SNP) T393C in the GNAS1 gene has been reported to have a clinical impact on CLL progression and overall survival. In order to further investigate the T393C SNP in CLL, we have genotyped 279 CLL cases and correlated the genotypes to clinical outcome and other known prognostic factors such as the immunoglobulin heavy chain variable (IGHV) gene mutation status and CD38 expression. In the present study, no difference in overall survival or time to treatment was observed in the CLL patients with the different genotypes in contrast to the previous report. Furthermore, no correlation was observed with the T393C genotypes and IGHV mutational status, Binet stage or CD38 in this cohort. In summary, our data does not support the use of the T393C GNAS SNP as a clinical prognostic factor in CLL.


  • Mohd Arifin Kaderi
  • Fiona Murray
  • Mattias Jansson
  • Mats Merup
  • Karin Karlsson
  • Goeran Ross
  • Anna Aleskog
  • Gerard Tobin
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology


  • leukemia prognosis, GNAS1 T393C single nucleotide polymorphism, chronic lymphocytic
Original languageEnglish
Pages (from-to)984-987
JournalLeukemia Research: A Forum for Studies on Leukemia and Normal Hemopoiesis
Issue number6
Publication statusPublished - 2008
Publication categoryResearch

Bibliographic note

The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Hematology/Transplantation (013022014)