ReviewCurrent opinion in hematology2019
Mechanisms of leukemic transformation in congenital neutropenia.
Review in Current opinion in hematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 44 citations in OpenAlex.
- Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.Frontiers in genetics · 2025Article
- The spectrum of Ph-negative disease: CNL and CSF3R-related disorders.Hematology. American Society of Hematology. Education Program · 2024Review
- Kmt2c restricts G-CSF-driven HSC mobilization and granulocyte production in a methyltransferase-independent manner.Cell reports · 2024Article
- Review
- Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.Best practice & research. Clinical haematology · 2024Review
- Individualized Treatment Approach for Rectal Adenocarcinoma in the Setting of Congenital Neutropenia.Cureus · 2024Article
- Article
- Article
- Case Report: Characterization of known (c.607G>C) and novel (c.416C>G)Frontiers in immunology · 2023Article
- Outcomes for patients with severe chronic neutropenia treated with granulocyte colony-stimulating factor.Blood advances · 2022Article
- Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management.Mediterranean journal of hematology and infectious diseases · 2022Review
- Diagnosis and therapeutic decision-making for the neutropenic patient.Hematology. American Society of Hematology. Education Program · 2021Article
- Mechanisms of somatic transformation in inherited bone marrow failure syndromes.Hematology. American Society of Hematology. Education Program · 2021Review
- Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2020Review
- Application of the Moran Model in Estimating Selection Coefficient of Mutated CSF3R Clones in the Evolution of Severe Congenital Neutropenia to Myeloid Neoplasia.Frontiers in physiology · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
purpose of reviewThe development of a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital neutropenia is now the major cause of mortality. Treatment options are limited and there are no effective prevention strategies. This review focuses on mechanisms of leukemic transformation in severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS), the two most common types of congenital neutropenia. RECENT
findingsAML/MDS that develops in the setting of congenital neutropenia has distinct molecular features. Clonal hematopoiesis because of TP53 mutations is seen in nearly 50% of patients with SDS, but is not seen in patients with SCN. Accordingly, there is a very high frequency of TP53 mutations in AML/MDS arising in the setting of SDS but not SCN. The rate of mutation accumulation in hematopoietic stem cells (HSCs) from patients with congenital neutropenia is not increased. SUMMARY: Both HSC cell-intrinsic and noncell-intrinsic changes contribute to the development of clonal hematopoiesis in congenital neutropenia and likely accounts for the high rate of leukemic transformation. In SCN, the persistently high levels of granulocyte colony-stimulating factor drive expansion of HSCs carrying truncation mutations of CSF3R. In SDS, impaired ribosome biogenesis induces p53-mediated growth inhibition and drives expansion of HSCs carrying TP53 mutations.
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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.