RGD Reference Report - Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. - Rat Genome Database

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Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

Authors: Germeshausen, M  Ballmaier, M  Welte, K 
Citation: Germeshausen M, etal., Blood. 2007 Jan 1;109(1):93-9. Epub 2006 Sep 19.
RGD ID: 10450485
Pubmed: PMID:16985178   (View Abstract at PubMed)
DOI: DOI:10.1182/blood-2006-02-004275   (Journal Full-text)

Point mutations in the gene for the granulocyte colony-stimulating factor (G-CSF) receptor CSF3R have been implicated in the progression of severe congenital neutropenia (CN) to leukemia. In this study we present data on a total of 218 patients with chronic neutropenia, including 148 patients with CN (23/148 with secondary malignancies). We detected CSF3R nonsense mutations at 17 different nucleotide positions (thereof 10 new mutations) which lead to a loss of 1 to all 4 tyrosine residues in the intracellular domain of the receptor. Of 23 patients with CN with signs of malignant transformation, 18 (78%) were shown to harbor a CSF3R mutation, indicating that these mutations, although not a necessary condition, are highly predictive for malignant transformation even if detected in a low percentage of transcripts. In serial analyses of 50 patients with CSF3R mutations we were able to follow the clonal dynamics of mutated cells. We could demonstrate that even a highly clonal hematopoiesis did not inevitably show a rapid progression to leukemia. Our results strongly suggest that acquisition of a CSF3R mutation is an early event in leukemogenesis that has to be accompanied by cooperating molecular events, which remain to be defined.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CSF3RHumansevere congenital neutropenia disease_progressionIAGP  RGD 
Csf3rRatsevere congenital neutropenia disease_progressionISOCSF3R (Homo sapiens) RGD 
Csf3rMousesevere congenital neutropenia disease_progressionISOCSF3R (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Csf3r  (colony stimulating factor 3 receptor)

Genes (Mus musculus)
Csf3r  (colony stimulating factor 3 receptor)

Genes (Homo sapiens)
CSF3R  (colony stimulating factor 3 receptor)


Additional Information