ArticleHaematologica2010
Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.
Article in Haematologica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- The association between juvenile xanthogranulomas in neurofibromatosis type 1 patients and the development of leukaemia: A systematic review.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Pooled it
- Review
- Diagnoses of double heterozygous NF1 variants and dual RASopathy.Molecular and cellular pediatrics · 2026Review
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Review
- Novel humanized loss-of-function NF1 mouse model of juvenile myelomonocytic leukemia.Blood advances · 2026Article
- Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.Einstein (Sao Paulo, Brazil) · 2026Article
- The m6A methyltransferase METTL14 promotes oncogenic Kras induced juvenile myelomonocytic leukemia through dysregulating autophagy.Cell death and differentiation · 2026Article
- Clinicopathologic Characteristics and Prognostic Profile of Chronic Myeloid Neoplasms With Somatic NF1 Mutations in Adult Patients.European journal of haematology · 2025Article
- Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.JCO precision oncology · 2022Article
- Review
- Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples.Leukemia · 2022Article
- Molecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition.Life (Basel, Switzerland) · 2021Review
- Juvenile myelomonocytic leukemia in the molecular era: a clinician's guide to diagnosis, risk stratification, and treatment.Blood advances · 2021Article
- RASopathies: From germline mutations to somatic and multigenic diseases.Biomedical journal · 2021Review
- Current Treatment of Juvenile Myelomonocytic Leukemia.Journal of clinical medicine · 2021Review
- Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management.American journal of blood research · 2021Review
- Sustained fetal hematopoiesis causes juvenile death from leukemia: evidence from a dual-age-specific mouse model.Blood advances · 2020Article
- Single-Center Experience With Epigenetic Treatment for Juvenile Myelomonocytic Leukemia.Frontiers in oncology · 2020Article
- Gene mutations do not operate in a vacuum: the increasing importance of epigenetics in juvenile myelomonocytic leukemia.Epigenetics · 2019Review
- JMML genomics and decisions.Hematology. American Society of Hematology. Education Program · 2018Review
Corrections and comments
- Commented on by
Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Children with neurofibromatosis type 1 (NF-1), being constitutionally deficient for one allele of the NF1 gene, are at greatly increased risk of juvenile myelomonocytic leukemia (JMML). NF1 is a negative regulator of RAS pathway activity, which has a central role in JMML. To further clarify the role of biallelic NF1 gene inactivation in the pathogenesis of JMML, we investigated the somatic NF1 lesion in 10 samples from children with JMML/NF-1. We report that two-thirds of somatic events involved loss of heterozygosity (LOH) at the NF1 locus, predominantly caused by segmental uniparental disomy of large parts of chromosome arm 17q. One-third of leukemias showed compound-heterozygous NF1-inactivating mutations. A minority of cases exhibited somatic interstitial deletions. The findings reinforce the emerging role of somatic mitotic recombination as a leukemogenic mechanism. In addition, they support the concept that biallelic NF1 inactivation in hematopoietic progenitor cells is required for transformation to JMML in children with NF-1.
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.