ReviewBest practice & research. Clinical haematology2020
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Review in Best practice & research. Clinical haematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 106 citations in OpenAlex.
- Germ line landscape stratification defines distinct molecular and prognostic groups in therapy-related myeloid neoplasms.Blood advances · 2026Article
- [Clinical characteristics and prognosis of myelodysplastic neoplasms with GATA2 mutations].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Article
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- A Novel Approach to Prognostic Factors and Risk Stratification in Pediatric AML: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Image-based drug screening combined with molecular profiling identifies signatures and drivers of therapy resistance in pediatric AML.Cell reports. Medicine · 2025Article
- Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.Journal of clinical medicine · 2025Review
- Regression of Monosomy 7 Clone in Patient With RECQL4-Associated Syndrome.American journal of hematology · 2025Article
- Seq2Karyotype (S2K): A Method forbioRxiv : the preprint server for biology · 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
- Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.Genes · 2025Review
- Article
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- Donor dilemmas in hereditary hematopoietic malignancies.Haematologica · 2024Article
- Molecular pathophysiology of germline mutations in acute myeloid leukemia.International journal of hematology · 2024Review
- Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.HemaSphere · 2024Article
- Malignant progression of preleukemic disorders.Blood · 2024Review
- Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.BMC infectious diseases · 2024Article
- Insights into the Molecular Mechanisms of Genetic Predisposition to Hematopoietic Malignancies: The Importance of Gene-Environment Interactions.Cancer discovery · 2024Article
- Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.Best practice & research. Clinical haematology · 2024Review
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Increasing awareness about germline predisposition and the widespread application of unbiased whole exome sequencing contributed to the discovery of new clinical entities with high risk for the development of haematopoietic malignancies. The revised 2016 WHO classification introduced a novel category of "myeloid neoplasms with germline predisposition" with GATA2, CEBPA, DDX41, RUNX1, ANKRD26 and ETV6 genes expanding the spectrum of hereditary myeloid neoplasms (MN). Since then, more germline causes of MN were identified, including SAMD9, SAMD9L, and ERCC6L2. This review describes the genetic and clinical spectrum of predisposition to MN. The main focus lies in delineation of phenotypes, genetics and management of GATA2 deficiency and the novel SAMD9/SAMD9L-related disorders. Combined, GATA2 and SAMD9/SAMD9L (SAMD9/9L) syndromes are recognized as most frequent causes of primary paediatric myelodysplastic syndromes, particularly in setting of monosomy 7. To date, ~550 cases with germline GATA2 mutations, and ~130 patients with SAMD9/9L mutations had been reported in literature. GATA2 deficiency is a highly penetrant disorder with a progressive course that often rapidly necessitates bone marrow transplantation. In contrast, SAMD9/9L disorders show incomplete penetrance with various clinical outcomes ranging from spontaneous haematological remission observed in young children to malignant progression.
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