Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital

Protein phosphatase, Mg2+/Mn2+-dependent 1D (PPM1D) mutations in haematological cancer

Research output: Contribution to journalReviewResearchpeer-review


  1. Mutations known from B-cell lymphoid malignancies are not found in CD34+ stem cells from patients with lymphoma

    Research output: Contribution to journalLetterResearchpeer-review

  2. TET2 mutations are associated with hypermethylation at key regulatory enhancers in normal and malignant hematopoiesis

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. A user's guide to multicolor flow cytometry panels for comprehensive immune profiling

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Until recently, the protein phosphatase, Mg2+/Mn2+-dependent 1D (PPM1D) gene had not been examined in haematological cancer, but several studies have now explored the functional role of this gene and its aberrations. It is often mutated in the context of clonal haemopoiesis (including in patients with lymphoma, myeloproliferative neoplasms and myelodysplastic syndrome) and mutations have been associated with exposure to cytotoxic and radiation therapy, development of therapy-related neoplasms and inferior survival. The vast majority of PPM1D mutations found in haematopoietic cells are of the nonsense or frameshift type and located within terminal exon 6. These genetic defects are rarely found in the blood of healthy individuals. PPM1D encodes the PPM1D phosphatase [also named wild-type p53-induced phosphatase 1 (WIP1)], which negatively regulates signalling molecules within the DNA damage response pathway, including tumour suppressor p53. Clonal expansion of PPM1D mutant haematopoietic cells can potentially be prevented with inhibitors; however, human trials are awaited. In the present review, we provide a review of the literature regarding PPM1D and its role in haematological cancer.

Original languageEnglish
JournalBritish Journal of Haematology
Issue number4
Pages (from-to)697-705
Number of pages9
Publication statusPublished - Feb 2021

    Research areas

  • clonal haematopoiesis, clonal haemopoiesis, haematopoietic stem cells, Protein phosphatase Mg2+/Mn2+-dependent 1D (PPM1D), therapy-related myeloid neoplasms

ID: 62327419