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- Title
The use of genetic tests to diagnose and manage patients with myeloproliferative and myeloproliferative/myelodysplastic neoplasms, and related disorders.
- Authors
Cross, Nicholas C. P.; Godfrey, Anna L.; Cargo, Catherine; Garg, Mamta; Mead, Adam J.
- Abstract
Mutations are less frequent (<20%) in patients with indolent SM (ISM).101,102 In advanced SM, mutations in I SRSF2 i , I ASXL1 i , I RUNX1 i , I EZH2 i and I NRAS i have been associated with an adverse prognosis and thus molecular profiling is useful to guide transplant decisions.98,102-104 In ISM, high VAF (>=30%) mutations in I ASXL1 i , I RUNX1 i and/or I DNMT3A i have been associated with an adverse prognosis102 but the value of routine molecular profiling in this subtype remains to be established. Keywords: myeloproliferative neoplasms; myelodysplastic/myeloproliferative neoplasms; mastocytosis; eosinophilia; chronic myelomonocytic leukaemia EN myeloproliferative neoplasms myelodysplastic/myeloproliferative neoplasms mastocytosis eosinophilia chronic myelomonocytic leukaemia 338 351 14 11/01/21 20211101 NES 211101 Methodology This Good-Practice Paper was compiled according to the BSH process at https://b-s-h.org.uk/media/16732/bsh-guidance-development-process-dec-5-18.pdf. For older patients without thrombosis, testing may be considered but results must be interpreted with caution in view of the possibility of incidental CH. Testing is not indicated in patients with normal or reactive bone marrow histology. More than half of patients with "triple-negative" PMF do harbour additional mutations when screened with comprehensive genomic assays31 and approximately a third have an abnormal karyotype.51 In patients with bone marrow histology and clinical features consistent with PMF, myeloid gene panel testing in combination with conventional karyotyping (or SNP array) is recommended.
- Subjects
HYPEREOSINOPHILIC syndrome; MYELOFIBROSIS; DIAGNOSIS; GENETIC testing; REVERSE transcriptase polymerase chain reaction
- Publication
British Journal of Haematology, 2021, Vol 195, Issue 3, p338
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.17766