ArticleBlood2006
Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies.
Article in Blood, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 84 citations in OpenAlex.
- Review
- LNK/Haematologica · 2024Article
- 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
- Genome-Wide Profiling of Acquired Uniparental Disomy Reveals Prognostic Factors in Head and Neck Squamous Cell Carcinoma.Neoplasia (New York, N.Y.) · 2019Article
- Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.International journal of cancer · 2019Article
- Genome-Wide Analysis of Head and Neck Squamous Cell Carcinomas Reveals HPV, TP53, Smoking and Alcohol-Related Allele-Based Acquired Uniparental Disomy Genomic Alterations.Neoplasia (New York, N.Y.) · 2019Article
- Acquired uniparental disomy of chromosome 9p in hematologic malignancies.Experimental hematology · 2016Review
- The Molecular Karyotype of 25 Clinical-Grade Human Embryonic Stem Cell Lines.Scientific reports · 2015Article
- The genomic landscape of juvenile myelomonocytic leukemia.Nature genetics · 2015Article
- RAS diseases in children.Haematologica · 2014Review
- Central nervous system lymphoma occurring in a patient with neurofibromatosis type 1 (von Recklinghausen disease).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2012Review
- Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.Human genomics · 2011Review
- Pathogenesis and consequences of uniparental disomy in cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2011Review
- Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.Human mutation · 2011Article
- Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies.Blood · 2010Review
- Article
- Article
- Article
- Juvenile myelomonocytic leukemia: epidemiology, etiopathogenesis, diagnosis, and management considerations.Paediatric drugs · 2010Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
To identify the mechanism of loss of heterozygosity (LOH) and potential modifier gene(s), we investigated the molecular basis of somatic NF1 inactivation in myeloid malignancies from 10 children with neurofibromatosis type 1. Loci across a minimal 50-Mb region of primarily the long arm of chromosome 17 showed LOH in 8 cases, whereas a less than 9-Mb region of loci flanking NF1 had LOH in the remaining 2 cases. Two complementary techniques, quantitative polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH), were used to determine whether the copy number at loci that showed LOH was 1 or 2 (ie, deleted or isodisomic). The 2 cases with LOH limited to less than 9 Mb were intrachromosomal deletions. Among the 8 leukemias with 50-Mb LOH segments, 4 had partial uniparental isodisomy and 4 had interstitial uniparental isodisomy. These isodisomic cases showed clustering of the centromeric and telomeric LOH breakpoints. This suggests that the cases with interstitial uniparental isodisomy arose in a leukemia-initiating cell by double-homologous recombination events at intervals of preferred mitotic recombination. Homozygous inactivation of NF1 favored outgrowth of the leukemia-initiating cell. Our studies demonstrate that LOH analyses of loci distributed along the chromosomal length along with copy-number analysis can reveal novel mechanisms of LOH that may potentially identify regions harboring "cryptic" tumor suppressor or modifier genes whose inactivation contributes to tumorigenesis.
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