Publications by authors named "Betty Leite"
Pediatric acute myeloid leukemia frequently harbor fusion oncogenes associated with poor prognosis, including KMT2A, NUP98 and GLIS2 rearrangements. While murine models have demonstrated their leukemogenic activities, the steps from a normal human cell to leukemic blasts remain unclear. Here, we precisely reproduced the inversion of chromosome 16 resulting in ETO2::GLIS2 fusion in human induced pluripotent stem cells (iPSC).
View Article and Find Full Text PDFAcute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden.
View Article and Find Full Text PDFArticle Synopsis
- Familial platelet disorder with predisposition to acute myeloid leukaemia (FPD/AML) is linked to RUNX1 mutations, resulting in low platelet counts and increased leukemia risk.
- The case study highlights a man with a family history of RUNX1 mutation who developed T2-ALL at 42 and later AML-M0, revealing genetic similarities and abnormalities in both leukemia types.
- Genetic analysis (NGS) indicated a rare TET2 mutation in his blood years before leukemia developed, which, along with RUNX1 mutation, may have led to an enhanced risk of acquiring additional mutations for leukemia progression.