ReviewAmerican journal of clinical pathology2019
Germline Predisposition to Hematolymphoid Neoplasia.
Review in American journal of clinical pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Contemporary Approach to the Diagnosis and Classification of Myelodysplastic Neoplasms/Syndromes-Recommendations From the International Consortium for Myelodysplastic Neoplasms/Syndromes (MDS [icMDS]).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Guideline
- How I diagnose myeloid neoplasms with germline predisposition.American journal of clinical pathology · 2023Article
- Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.Current hematologic malignancy reports · 2023Review
- Review
- Article
- Germline and somatic drivers in inherited hematologic malignancies.Frontiers in oncology · 2023Review
- GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.British journal of haematology · 2022Review
- Aplastic Anemia as a Roadmap for Bone Marrow Failure: An Overview and a Clinical Workflow.International journal of molecular sciences · 2022Review
- miR-181c regulates MCL1 and cell survival in GATA2 deficient cells.Journal of leukocyte biology · 2022Article
- Next-generation sequencing reveals the presence ofEJHaem · 2021Article
- The Emerging Role of Hematopathologists and Molecular Pathologists in Detection, Monitoring, and Management of Myeloid Neoplasms with Germline Predisposition.Current hematologic malignancy reports · 2021Review
- Clinical features ofTherapeutic advances in hematology · 2021Review
- Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).Blood · 2020Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
objectivesThe 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review clinical cases with germline predisposition to hematolymphoid neoplasms.
methodsThe Workshop Panel reviewed 51 cases with germline mutations and rendered consensus diagnoses. Of these, six cases were presented at the meeting by the submitting pathologists.
resultsThe cases submitted to the session covering germline predisposition included 16 cases with germline GATA2 mutations, 10 cases with germline RUNX1 mutations, two cases with germline CEBPA mutations, two germline TP53 mutations, and one case of germline DDX41 mutation. The most common diagnoses were acute myeloid leukemia (15 cases) and myelodysplastic syndrome (MDS, 14 cases).
conclusionsThe majority of the submitted neoplasms occurring in patients with germline predisposition were myeloid neoplasms with germline mutations in GATA2 and RUNX1. The presence of a germline predisposition mutation is not sufficient for a diagnosis of a neoplasm until the appearance of standard diagnostic features of a hematolymphoid malignancy manifest: in general, the diagnostic criteria for neoplasms associated with germline predisposition disorders are the same as those for sporadic cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.