Cytogenetics and molecular genetics of myelodysplastic neoplasms

Yi Ning; Yanming Zhang; Michael A Kallen; Ashkan Emadi; Maria R Baer

doi:10.1016/j.beha.2023.101512

Cytogenetics and molecular genetics of myelodysplastic neoplasms

Best Pract Res Clin Haematol. 2023 Dec;36(4):101512. doi: 10.1016/j.beha.2023.101512. Epub 2023 Aug 16.

Authors

Yi Ning¹, Yanming Zhang², Michael A Kallen³, Ashkan Emadi⁴, Maria R Baer⁵

Affiliations

¹ Department of Pathology, University of Maryland School of Medicine, Baltimore, MD, USA. Electronic address: yning@som.umaryland.edu.
² Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address: zhangy1@mskcc.org.
³ Department of Pathology, University of Maryland School of Medicine, Baltimore, MD, USA. Electronic address: mkallen@som.umaryland.edu.
⁴ Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA; University of Maryland Greenebaum Comprehensive Cancer Center, Baltimore, MD, USA. Electronic address: aemadi@umm.edu.
⁵ Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA; University of Maryland Greenebaum Comprehensive Cancer Center, Baltimore, MD, USA. Electronic address: mbaer@umm.edu.

PMID: 38092472
DOI: 10.1016/j.beha.2023.101512

Abstract

According to the 2022 World Health Organization (WHO) Classification (5th edition), the term myelodysplastic neoplasms (abbreviated MDS) has been introduced to replace myelodysplastic syndromes. MDS are a group of clonal hematopoietic stem cell diseases characterized by cytopenia(s), dysplasia in one or more of lineages, ineffective hematopoiesis, and an increased risk of progression to bone marrow failure or to acute myeloid leukemia (AML). Current NCCN guidelines and recent review articles have provided in depth discussion on the clinical diagnosis and management of MDS. This review will focus on discussion of the WHO and International Consensus Classification (ICC) updates on the role of cytogenetics and molecular genetics in the diagnosis and risk stratification of MDS.

Keywords: MDS diagnosis; MDS genetics; MDS management; MDS prognosis.

Publication types

Review
Research Support, N.I.H., Extramural

MeSH terms

Cytogenetic Analysis
Humans
Leukemia, Myeloid, Acute* / diagnosis
Leukemia, Myeloid, Acute* / genetics
Leukemia, Myeloid, Acute* / therapy
Molecular Biology
Myelodysplastic Syndromes* / diagnosis
Myelodysplastic Syndromes* / genetics
Myelodysplastic Syndromes* / therapy
Prognosis

Grants and funding

P30 CA134274/CA/NCI NIH HHS/United States