are sensitive to NMD in primary AML. Consequently, these AML cases do not express the predicted truncated WT1 proteins. In these AML cases, mutations in WT1 may result in haploinsufficiency rather than expression of truncated WT1 proteins with impaired function. Haploinsufficiency and impaired function have been proposed as two possible mechanisms by which mutant WT1 may affect normal hematopoietic development. Surprisingly, in the WT1 mutant AML cases the wild-type WT1 protein is expressed at relatively high levels. Although, this phenomena has been shown in sporadic Wilms' tumors and some related syndromes, it is currently unclear whether the WT1 protein is pathogenic in these cases or whether it is related to the etiology of the cell of origin. 1
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