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Relevance of TP53 for CLL diagnostics
  1. Mark A Catherwood1,
  2. David Gonzalez2,
  3. David Donaldson1,
  4. Ruth Clifford3,
  5. Ken Mills2,
  6. Patrick Thornton4
  1. 1 Haematology Department, Belfast Health and Social Care Trust, Belfast, UK
  2. 2 Centre for Cancer Research and Cell Biology (CCRCB), Queen’s University Belfast, Belfast, UK
  3. 3 Department of Haematology, University Hospital Limerick, Ireland
  4. 4 Department of Haematology, Beaumont Hospital, Dublin, Ireland
  1. Correspondence to Dr Mark A Catherwood, Clinical Haematology, Belfast City Hospital, BHSCT, Belfast, BT9 7AB, UK ; mark.catherwood{at}belfasttrust.hscni.net

Abstract

TP53 disruption in chronic lymphocytic leukaemia (CLL) is a well-established prognostic marker and informs on the appropriate course of treatment for patients. TP53 status is commonly assessed by fluorescence in situ hybridisation for del(17 p) and Sanger sequencing for TP53 mutations. At present, current screening methods for TP53 mutations fail to detect diagnostically relevant mutations potentially leading to inappropriate treatment decisions. In addition, low levels of mutations that are proving to be clinically relevant may not be discovered with current less sensitive techniques. This review describes the structure, function and regulation of the TP53 protein, the mutations found in cancer and CLL, the relevance of TP53 disruption in CLL and the current screening methods for TP53 mutations including next-generation sequencing.

  • chronic lymphocytic leukaemia
  • p53
  • Deletion 17p
  • prognosis
  • next generation sequencing

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Footnotes

  • Handling editor Des Richardson.

  • Contributors MAC wrote the manuscript and prepared all figures. DG, RC, KM, DD and PT contributed to the writing of the manuscript.

  • Funding KM is funded by Leukaemia and Lymphoma Northern Ireland (LLNI).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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