Panel-based gene testing in myelodysplastic/myeloproliferative neoplasm overlap syndromes: Australasian Leukaemia and Lymphoma Group (ALLG) consensus statement

Pathology. 2022 Jun;54(4):389-398. doi: 10.1016/j.pathol.2022.03.002. Epub 2022 Apr 20.


This review aims to provide an expert consensus statement to address the role of gene-panel testing in the diagnosis, prognosis and management of adult myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes (MDS/MPN) in Australia. This consensus statement was developed by an expert group, actively involved in gene panel testing in the area of MDS/MPN in Australia. This work was led by the chairs of the MDS (A/Prof A. Enjeti) and MPN (A/Prof D. Ross) working parties of the Australasian Leukaemia and Lymphoma Group (ALLG). The authors were selected after an expression of interest process on the basis of active laboratory involvement in gene panel testing, a specific demonstrated interest in MDS/MPN and/or publication record in this field. The authors were then allocated sections for literature review to identify the specific genes of interest for each MDS/MPN entity. At least two authors reviewed each section and an overarching diagnostic algorithm was developed by a consensus amongst all authors.

Keywords: Myelodysplasia; NGS; consensus; gene panel; myeloproliferative neoplasms.

Publication types

  • Review

MeSH terms

  • Humans
  • Leukemia* / diagnosis
  • Leukemia* / genetics
  • Lymphoma*
  • Mutation
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / metabolism
  • Myelodysplastic-Myeloproliferative Diseases* / diagnosis
  • Myelodysplastic-Myeloproliferative Diseases* / genetics
  • Myeloproliferative Disorders* / genetics