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Molecular Data and the IPSS-R: How Mutational Burden Can Affect Prognostication in MDS

  • Myelodysplastic Syndromes (M Savona, Section Editor)
  • Published:
Current Hematologic Malignancy Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

The purpose of this study is to review established prognostic models in myelodysplastic syndromes (MDS) and describe how molecular data can be used to improve patient risk stratification.

Recent Findings

Somatic mutations are common in MDS and are associated with disease features including outcomes. Several recurrently mutated genes have prognostic significance independent of risk stratification tools used in practice. However, this prognostic impact can depend on the clinicogenetic context in which mutations occur. Qualitatively, SF3B1 mutations appear favorable only in patients with < 5% bone marrow blasts while mutations of several genes, including ASXL1, SRSF2, U2AF1, NRAS, and IDH2, appear adverse in this context. Mutations of TP53, RUNX1, and EZH2 appear adverse regardless of blast percentage. Consensus on how to best incorporate mutations into risk assessment is still being developed.

Summary

Somatic mutations can refine risk stratification and improve the accuracy of existing prognostic models, often upstaging or downstaging patients across the boundary of higher- and lower-risk MDS.

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Author information

Authors and Affiliations

  1. Leukemia Program, Department of Hematology and Medical Oncology, Cleveland Clinic, Cleveland, OH, USA

    Aziz Nazha

  2. Division of Hematology and Oncology, University of California, San Diego, Moores Cancer Center, 3855 Health Sciences Drive MC 0820, La Jolla, CA, 92093-0820, USA

    Rafael Bejar

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  1. Aziz Nazha
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  2. Rafael Bejar
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Correspondence to Rafael Bejar.

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Conflict of Interest

Aziz Nazha declares no potential conflicts of interest.

Rafael Bejar reports personal fees and other from Genoptix, grants, personal fees and other from Celgene, other from AbbVie, personal fees and other from Foundation Medicine, and other from Otsuka/Astex, outside the submitted work. In addition, Dr. Bejar has a patent prognostic mutation signature in MDS with royalties paid.

Human and Animal Rights and Informed Consent

This article contains no studies with human or animal subjects performed by any of the authors.

Additional information

This article is part of the Topical Collection on Myelodysplastic Syndromes

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Nazha, A., Bejar, R. Molecular Data and the IPSS-R: How Mutational Burden Can Affect Prognostication in MDS. Curr Hematol Malig Rep 12, 461–467 (2017). https://doi.org/10.1007/s11899-017-0407-9

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  • DOI: https://doi.org/10.1007/s11899-017-0407-9

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