nstd83 (Morak et al. 2013)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Maria Morak
- Description:
- The leukemia-initiating ETV6-RUNX1 (ER) fusion occurs already in utero but supporting genetic lesions are required to cause overt leukemia. To assess the timing of such B cell development- (PAX5, n=8; VpreB1, n=3), proliferation- and apoptosis-associated (BTG1, n=3; BMF, n=1) lesions, we analyzed Guthrie card DNA of 10 ER-positive leukemias for their presence. Despite our approach reaching a single cell detection level and the detection of genomic ER fusion in all Guthrie cards, we did not recover any of the specific secondary changes. These results are consistent with the prevailing notion that secondary aberrations occur in the postnatal period, but do not exclude the possibility that at least some of them emerge already prenatally and the affected clones simply have not yet reached a size that is detectable with the presently available approaches. See Variant Summary counts for nstd83 in dbVar Variant Summary.
- Publication(s):
- Morak et al. 2013