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New hPSC-based human models to study pediatric Acute Megakaryoblastic Leukemia harboring the fusion oncogene
Verónica Ayllón1, Marina Vogel-González1, Federico González-Pozas1
1Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO-Centre for Genomics and Oncological Research-Pfizer/University of Granada/Junta de Andalucía, PTS Granada, 18016 Granada, Spain.
Abstract:
Pediatric Acute Megakaryoblastic Leukemia not associated to Down Syndrome (non-DS AMKL) is a rare disease with a dismal prognosis. Around 15% of patients carry the chromosomal translocation t(1;22) that originates the fusion oncogene RBM15-MKL1, which is linked to an earlier disease onset (median of 6months of age) and arises in utero. Here we report the generation of two hPSC cell lines constitutively expressing the oncogene RBM15-MKL1, resulting in an increased expression of known RBM15-MKL1 gene targets. These cell lines represent new disease models of pediatric AMKL to study the impact of the RBM15-MKL1 oncogene on human embryonic hematopoietic development.