Recurrent CDKN1B (p27) mutations in hairy cell leukemia

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Sascha Dietrich - , German Cancer Research Center (DKFZ) (Author)
  • Jennifer Hüllein - , German Cancer Research Center (DKFZ) (Author)
  • Stanley Chun Wei Lee - , Memorial Sloan-Kettering Cancer Center (Author)
  • Barbara Hutter - , German Cancer Research Center (DKFZ) (Author)
  • David Gonzalez - , Royal Marsden NHS Foundation Trust (Author)
  • Sandrine Jayne - , University of Leicester (Author)
  • Martin J.S. Dyer - , University of Leicester (Author)
  • Małgorzata Oleś - , German Cancer Research Center (DKFZ) (Author)
  • Monica Else - , Institute of Cancer Research (Author)
  • Xiyang Liu - , German Cancer Research Center (DKFZ) (Author)
  • Mikołaj Słabicki - , German Cancer Research Center (DKFZ) (Author)
  • Bian Wu - , German Cancer Research Center (DKFZ) (Author)
  • Xavier Troussard - , Université de Caen (Author)
  • Jan Dürig - , University of Duisburg-Essen (Author)
  • Mindaugas Andrulis - , Heidelberg University  (Author)
  • Claire Dearden - , Royal Marsden NHS Foundation Trust (Author)
  • Christof Von Kalle - , German Cancer Research Center (DKFZ) (Author)
  • Martin Granzow - , Heidelberg University  (Author)
  • Anna Jauch - , Heidelberg University  (Author)
  • Stefan Fröhling - , German Cancer Research Center (DKFZ) (Author)
  • Wolfgang Huber - , German Cancer Research Center (DKFZ) (Author)
  • Manja Meggendorfer - , Munich Leukemia Laboratory (Author)
  • Torsten Haferlach - , Munich Leukemia Laboratory (Author)
  • Anthony D. Ho - , German Cancer Research Center (DKFZ) (Author)
  • Daniela Richter - , German Cancer Research Center (DKFZ) (Author)
  • Benedikt Brors - , German Cancer Research Center (DKFZ) (Author)
  • Hanno Glimm - , National Center for Tumor Diseases (NCT) Heidelberg (Author)
  • Estella Matutes - , Royal Marsden NHS Foundation Trust (Author)
  • Omar Abdel Wahab - , Memorial Sloan-Kettering Cancer Center (Author)
  • Thorsten Zenz - , German Cancer Research Center (DKFZ) (Author)

Abstract

Hairy cell leukemia (HCL) is marked by near 100% mutational frequency of BRAFV600E mutations. Recurrent cooperating genetic events that may contribute to HCL pathogenesis or affect the clinical course of HCL are currently not described. Therefore, we performed whole exome sequencing to explore the mutational landscape of purine analog refractory HCL. In addition to the disease-defining BRAFV600E mutations, we identified mutations in EZH2, ARID1A, and recurrent inactivating mutations of the cell cycle inhibitor CDKN1B (p27). Targeted deep sequencing of CDKN1B in a larger cohort of HCL patients identify deleterious CDKN1B mutations in 16% of patients with HCL (n = 13 of 81). In 11 of 13 patients the CDKN1B mutation was clonal, implying an early role of CDKN1B mutations in the pathogenesis of HCL. CDKN1B mutations were not found to impact clinical characteristics or outcome in this cohort. These data identify HCL as having the highest frequency of CDKN1B mutations among cancers and identify CDNK1B as the second most common mutated gene in HCL. Moreover, given the known function of CDNK1B, these data suggest a novel role for alterations in regulation of cell cycle and senescence in HCL with CDKN1B mutations.

Details

Original languageEnglish
Pages (from-to)1005-1008
Number of pages4
JournalBlood
Volume126
Issue number8
Publication statusPublished - 20 Aug 2015
Peer-reviewedYes
Externally publishedYes

External IDs

PubMed 26065650

Keywords

Sustainable Development Goals