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

Anoop K Enjeti; Rishu Agarwal; Piers Blombery; Lynette Chee; Chong Chyn Chua; Andrew Grigg; Nada Hamad; Harry Iland; Steven Lane; Andrew Perkins; Deepak Singhal; Courtney Tate; Ing Soo Tiong; David M Ross

doi:10.1016/j.pathol.2022.03.002

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.

Authors

Anoop K Enjeti¹, Rishu Agarwal², Piers Blombery³, Lynette Chee³, Chong Chyn Chua⁴, Andrew Grigg⁵, Nada Hamad⁶, Harry Iland⁷, Steven Lane⁸, Andrew Perkins⁹, Deepak Singhal¹⁰, Courtney Tate¹¹, Ing Soo Tiong¹², David M Ross¹³

Affiliations

¹ Australasian Leukaemia and Lymphoma Group, Australia; Department of Haematology, Calvary Mater Hospital, Waratah, NSW, Australia; New South Wales Health Pathology, John Hunter Hospital New Lambton Heights, NSW, Australia; University of Newcastle, Callaghan, NSW, Australia. Electronic address: Anoop.Enjeti@calvarymater.org.au.
² Australasian Leukaemia and Lymphoma Group, Australia; Austin Pathology, Melbourne, Vic, Australia.
³ Australasian Leukaemia and Lymphoma Group, Australia; Department of Clinical Haematology, The Royal Melbourne Hospital, Vic, Australia; Peter MacCallum Cancer Centre, Melbourne, Vic, Australia; Department of Medicine, The University of Melbourne, Parkville, Vic, Australia.
⁴ Australasian Leukaemia and Lymphoma Group, Australia; Department of Clinical Haematology, Northern Hospital, Melbourne, Vic, Australia.
⁵ Australasian Leukaemia and Lymphoma Group, Australia; Department Clinical Haematology, Austin Hospital Melbourne, Vic, Australia.
⁶ Australasian Leukaemia and Lymphoma Group, Australia; Department of Haematology, St Vincent's Hospital School of Medicine, University of Notre Dame, NSW, Australia; St Vincent's Clinical School Sydney, University of New South Wales, NSW, Australia.
⁷ Australasian Leukaemia and Lymphoma Group, Australia; Institute of Haematology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
⁸ Australasian Leukaemia and Lymphoma Group, Australia; Royal Brisbane and Women's Hospital, Brisbane, Qld, Australia; Cancer Program, QIMR Berghofer Medical Research Institute Brisbane, Qld, Australia.
⁹ Australasian Leukaemia and Lymphoma Group, Australia; Head of Genomic Medicine, Alfred Health, Melbourne, Vic, Australia.
¹⁰ Australasian Leukaemia and Lymphoma Group, Australia; Haematology Directorate, SA Pathology and Royal Adelaide Hospital, Adelaide, SA, Australia.
¹¹ Australasian Leukaemia and Lymphoma Group, Australia; Department of Clinical Haematology, Princess Alexandra Hospital, Queensland Health, Brisbane, Qld, Australia; University of Queensland, Qld, Australia.
¹² Australasian Leukaemia and Lymphoma Group, Australia; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, Vic, Australia; Malignant Haematology and Stem Cell Transplantation Service, Alfred Hospital, Melbourne, Vic, Australia; Monash University, Melbourne, Vic, Australia.
¹³ Australasian Leukaemia and Lymphoma Group, Australia; Haematology Directorate, SA Pathology and Royal Adelaide Hospital, Adelaide, SA, Australia; Department of Haematology, Flinders University and Medical Centre, Adelaide, SA, Australia.

PMID: 35461716
DOI: 10.1016/j.pathol.2022.03.002

Abstract

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