ArticleBlood2022
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.
Article in Blood, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 86 citations in OpenAlex.
- Real-world investigation of germ line predisposition to myelodysplastic syndromes.Blood advances · 2026Article
- Outcomes of germ line testing for children with hematologic malignancies undergoing hematopoietic cell transplantation.Blood advances · 2026Article
- Bone marrow failure syndromes across the age spectrum: diagnostic and therapeutic principles.EClinicalMedicine · 2026Review
- Article
- Hair bulb and oral mucosa DNA for prompt germline testing in hematologic neoplasms.Blood cancer journal · 2026Article
- A 2026 update on myelodysplastic neoplasms: current state, challenges and future directions.Nature reviews. Clinical oncology · 2026Review
- Performance and clinical utility of Spanish germ line genetic testing criteria for hematologic neoplasms predisposition.Blood advances · 2026Article
- [Clinical characteristics and prognosis of myelodysplastic neoplasms with GATA2 mutations].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Article
- The global epidemiology of acute myeloid leukaemia.Nature reviews. Clinical oncology · 2026Review
- Molecular approach to cytopenia and bone marrow failure.Hematology. American Society of Hematology. Education Program · 2025Review
- Germline Pathogenic Variants in MUTYH Are Associated With Inferior Survival After Hematopoietic Cell Transplantation in Patients With Hematologic Malignancies or Disorders.American journal of hematology · 2025Article
- Insights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.Bone marrow transplantation · 2025Article
- Risks of haematological malignancies in patients treated for solid tumours associated with the use of pegylated granulocyte colony-stimulating factors: A single centre study since 2005.Oncology letters · 2025Article
- Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies.Current hematologic malignancy reports · 2025Review
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- Overall cancer risk in people with deleterious germlineHaematologica · 2025Article
- Atypical lymphoproliferations associated with germline genetic variants: a report of the 2024 EA4HP/SH lymphoma workshop.Virchows Archiv : an international journal of pathology · 2025Review
- Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management.Current oncology reports · 2025Review
- Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
22 authors at 12 institutions in 3 countries.
Funding
Abstract
The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20%. However, there are no comprehensive studies assessing the frequency of such variants across the age spectrum. We performed augmented whole-exome sequencing of peripheral blood samples from 404 patients with MDS and their related donors before allogeneic hematopoietic stem cell transplantation. Single-nucleotide and copy number variants in 233 genes were analyzed and interpreted. Germ line status was established by the presence of a variant in the patient and related donor or for those seen previously only as germ line alleles. We identified P/LP germ line variants in 28 of 404 patients with MDS (7%), present within all age deciles. Patients with P/LP variants were more likely to develop higher-grade MDS than those without (43% vs 25%; P = .04). There was no statistically significant difference in outcome parameters between patients with and without a germ line variant, but the analysis was underpowered. P/LP variants in bone marrow failure syndrome genes were found in 5 patients aged less than 40 years, whereas variants in DDX41 (n = 4), telomere biology disorder genes (n = 2), and general tumor predisposition genes (n = 17) were found in patients aged more than 40 years. If presumed germ line variants were included, the yield of P/LP variants would increase to 11%, and by adding suspicious variants of unknown significance, it would rise further to 12%. The high frequency of P/LP germ line variants in our study supports comprehensive germ line genetic testing for all patients with MDS regardless of their age at diagnosis.
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