p53 is associated with high-risk and pinpoints TP53 missense mutations in mantle cell lymphoma

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  • bjh.17023

    Final published version, 1.51 MB, PDF document

  • Joana M. Rodrigues
  • May Hassan
  • Catja Freiburghaus
  • Christian W. Eskelund
  • Christian Geisler
  • Riikka Räty
  • Arne Kolstad
  • Christer Sundström
  • Ingrid Glimelius
  • Grønbæk, Kirsten
  • Anna Kwiecinska
  • Anna Porwit
  • Mats Jerkeman
  • Sara Ek

Survival for patients diagnosed with mantle cell lymphoma (MCL) has improved drastically in recent years. However, patients carrying mutations in tumour protein p53 (TP53) do not benefit from modern chemotherapy-based treatments and have poor prognosis. Thus, there is a clinical need to identify missense mutations through routine analysis to enable patient stratification. Sequencing is not widely implemented in clinical practice for MCL, and immunohistochemistry (IHC) is a feasible alternative to identify high-risk patients. The aim of the present study was to investigate the accuracy of p53 as a tool to identify patients with TP53 missense mutations and the prognostic impact of overexpression and mutations in a Swedish population-based cohort. In total, 317 cases were investigated using IHC and 255 cases were sequenced, enabling analysis of p53 and TP53 status among 137 cases divided over the two-cohort investigated. The accuracy of predicting missense mutations from protein expression was 82%, with sensitivity at 82% and specificity at 100% in paired samples. We further show the impact of p53 expression and TP53 mutations on survival (hazard ratio of 3·1 in univariate analysis for both), and the association to risk factors, such as high MCL International Prognostic Index, blastoid morphology and proliferation, in a population-based setting.

Original languageEnglish
JournalBritish Journal of Haematology
Volume191
Issue number5
Pages (from-to)796-805
ISSN0007-1048
DOIs
Publication statusPublished - 2020

    Research areas

  • digital pathology, immunohistochemistry, mantle cell lymphoma, p53, targeted sequencing, TP53

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