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Updated: Dec 27, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Ana Rio-Machin1, Tom Vulliamy2, Nele Hug3

  • 1Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK. a.rio-machin@qmul.ac.uk.

Nature Communications
|February 27, 2020
PubMed

Insights

Researchers identified new genetic causes for inherited myeloid malignancies in 86 families. This study advances the understanding and diagnosis of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).

Area of Science:

  • Hematology
  • Genetics
  • Oncology

Background:

  • Familial myeloid malignancies are increasingly recognized as a distinct entity.
  • Improved identification and management of at-risk individuals are crucial.

Purpose of the Study:

  • To identify germline variants associated with familial myeloid malignancies.
  • To expand the understanding of the genetic basis of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).

Main Methods:

  • Analysis of a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families.
  • Whole exome sequencing was performed on 37 uncharacterized families.

Main Results:

  • Germline variants were identified in 57% of families within 16 known loci.
  • Whole exome sequencing identified 65 new candidate loci, including novel genes and previously reported genes in hematological disorders.
  • Variants in genes like ADA, GP6, IL17RA, PRF1, SEC23B, DNAH9, NAPRT1, SH2B3, and DHX34 were found.

Conclusions:

  • This study provides significant insights into the etiology of inherited myeloid malignancies.
  • The findings offer a framework for prioritizing variants for routine diagnostics and patient management.

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