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Background: <p>Current classification systems for myelodysplastic syndromes (MDS) incorporate morphologic findings, blast percentage, and some genetic features such as del(5q) and <i>SF3B1</i> and <i>TP53</i> mutations. A recent comprehensive molecular taxonomy proposed by the MDS-International Working Group (MDS-IWG) categorizes MDS into 16 molecular groups and two residual groups and describes associations with various clinicopathological features and differing overall survival among groups.</p> Purpose: <p>In this study, we attempt to validate the findings described in the MDS-IWG classification in an independent cohort.</p> Methods: <p>We applied the MDS-IWG classification to 484 cases of MDS and myelodysplastic-type chronic myelomonocytic leukemia.</p> Results: <p>We verified numerous findings and associations described in the MDS-IWG molecular taxonomy paper, including the association of monocytosis with the bi-TET2 group, lower bone marrow blast percentage in the SF3B1 group, and higher bone marrow blast percentage in the TP53-complex and the IDH-STAG2 groups. This study confirms the poor prognosis of the EZH2-ASXL1 group despite low blast counts. Blast counts tended to affect prognosis most in the low-risk molecular groups, with little impact in the high-risk molecular groups. Within the MDS-IWG TP53-complex group, we find significant survival differences between <i>TP53</i>-mutated and unmutated cases, suggesting that this group is clinically and biologically heterogeneous.</p> Conclusion: <p>The MDS-IWG molecular taxonomy of MDS is clinically applicable in routine practice and exhibits clinicopathologic and prognostic significance.</p>

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Validation of clinicopathologic features of a genetic myelodysplastic syndrome classification in an independent cohort

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月12日

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  • Pranav Pramod Patwardhan,
  • Raniah D. Al Amri,
  • Vandana Baloda,
  • Mahmoud Aarabi,
  • Nidhi Aggarwal,
  • Miroslav Djokic,
  • Sara A. Monaghan,
  • Erika M. Moore,
  • Bryan Rea,
  • Nathanael G. Bailey

摘要

Background:

Current classification systems for myelodysplastic syndromes (MDS) incorporate morphologic findings, blast percentage, and some genetic features such as del(5q) and SF3B1 and TP53 mutations. A recent comprehensive molecular taxonomy proposed by the MDS-International Working Group (MDS-IWG) categorizes MDS into 16 molecular groups and two residual groups and describes associations with various clinicopathological features and differing overall survival among groups.

Purpose:

In this study, we attempt to validate the findings described in the MDS-IWG classification in an independent cohort.

Methods:

We applied the MDS-IWG classification to 484 cases of MDS and myelodysplastic-type chronic myelomonocytic leukemia.

Results:

We verified numerous findings and associations described in the MDS-IWG molecular taxonomy paper, including the association of monocytosis with the bi-TET2 group, lower bone marrow blast percentage in the SF3B1 group, and higher bone marrow blast percentage in the TP53-complex and the IDH-STAG2 groups. This study confirms the poor prognosis of the EZH2-ASXL1 group despite low blast counts. Blast counts tended to affect prognosis most in the low-risk molecular groups, with little impact in the high-risk molecular groups. Within the MDS-IWG TP53-complex group, we find significant survival differences between TP53-mutated and unmutated cases, suggesting that this group is clinically and biologically heterogeneous.

Conclusion:

The MDS-IWG molecular taxonomy of MDS is clinically applicable in routine practice and exhibits clinicopathologic and prognostic significance.