| INTRODUC TI ONWilms' tumor (WT1) is a transcription factor originally identified as a tumor suppressor gene, which plays a pivotal role in kidney and blood development. Wilms' tumor is overexpressed in most de novo acute myeloid leukemia (AML) cases and in other myeloid neoplasms. 1,2 It is essential in mesenchymal tissue maintenance through the Wnt4 pathway and it is physiologically expressed in a small percentage of bone marrow CD34+ cells. As these precursors mature, the WT1 expression is downregulated. [2][3][4][5] In human leukemias, the WT1 gene is mutated in 10% of AML and in 12%-13% of T-cell lineage ALL. 6 Despite extensive research in this field, it is not fully understood how WT1 overexpression and mutations give rise to the leukemic phenotype. Based on these findings, its upregulation in
Only proven pathogenic mutations associated with myeloid neoplasms are key to establish the clonal nature of the bone marrow fibrosis. In cases with genetic variants of uncertain meaning, the clinical picture may be required to rule out secondary causes.
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