Trial reportBlood2007
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.
Trial report in Blood, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 95 citations in OpenAlex.
- Colony-Stimulating Factor 3 Receptor Mutations and Variants in Hematological Malignancies.Cancers · 2025Review
- Optimizing diagnostic methods and stem cell transplantation outcomes in pediatric bone marrow failure: a 50-year single center experience.European journal of pediatrics · 2023Article
- Overview of inherited bone marrow failure syndromes.Blood research · 2022Review
- Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.American journal of hematology · 2022Article
- Impaired myelopoiesis in congenital neutropenia: insights into clonal and malignant hematopoiesis.Hematology. American Society of Hematology. Education Program · 2021Article
- Review
- Altered expression of CSF3R splice variants impacts signal response and is associated with SRSF2 mutations.Leukemia · 2020Article
- Review
- Mechanisms of leukemic transformation in congenital neutropenia.Current opinion in hematology · 2019Review
- Mutations in theBlood · 2018Article
- Article
- Translating the Game: Ribosomes as Active Players.Frontiers in genetics · 2018Review
- Review
- Recent advances in understanding clonal haematopoiesis in aplastic anaemia.British journal of haematology · 2017Review
- Germline Genetic Predisposition to Hematologic Malignancy.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Review
- A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA.The Journal of biological chemistry · 2017Article
- Old and new faces of neutropenia in children.Haematologica · 2016Article
- Molecular therapy for acute myeloid leukaemia.Nature reviews. Clinical oncology · 2016Review
- Article
- Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Best practice & research. Clinical haematology · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 8 institutions in 3 countries.
Funding
Abstract
Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Like most other bone marrow failure syndromes, it is associated with a marked propensity to transform into a myelodysplastic syndrome (MDS) or acute leukemia, with a cumulative rate of transformation to MDS/leukemia that exceeds 20%. The genetic (and/or epigenetic) changes that contribute to malignant transformation in SCN are largely unknown. In this study, we performed mutational profiling of 14 genes previously implicated in leukemogenesis using 14 MDS/leukemia samples from patients with SCN. We used high-throughput exon-based resequencing of whole-genome-amplified genomic DNA with a semiautomated method to detect mutations. The sensitivity and specificity of the sequencing pipeline was validated by determining the frequency of mutations in these 14 genes using 188 de novo AML samples. As expected, mutations of tyrosine kinase genes (FLT3, KIT, and JAK2) were common in de novo AML, with a cumulative frequency of 30%. In contrast, no mutations in these genes were detected in the SCN samples; instead, mutations of CSF3R, encoding the G-CSF receptor, were common. These data support the hypothesis that mutations of CSF3R may provide the "activated tyrosine kinase signal" that is thought to be important for leukemogenesis.
Indexed as
Identifiers
What OpenQuestion holds
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.