Background/Aim: Novel acquired chromosome aberrations in cancer may provide insights into pathogenetic mechanisms, be of diagnostic and/or prognostic significance and pave the way for new modes of therapeutic intervention. Here, we report a novel chromosome translocation and its molecular genetic consequences in a pediatric acute myeloid leukemia (AML) case. Materials and Methods: Cytogenetic, RNA sequencing, and molecular analyses were performed on the bone marrow cells of a child with AML. Results: The patient entered complete hematologic remission after treatment according to the NOPHO-AML 2004 protocol. A novel t(10;15)(p11;q15) translocation was found in leukemic cells at diagnosis resulting in a fusion of exon 13 of TYRO3 with a sequence from 10p11. The transcript codes for a putative TYRO3 protein lacking the tyrosine kinase domain. Conclusion: The t(10;15)(p11;q15) translocation in neoplastic bone marrow cells results in truncated TYRO3. Because the role of the truncated TYRO3 cannot be predicted functional studies are required.
Brunetti, M., Zeller, B., Tierens, A., Heim, S., Micci, F., & Panagopoulos, I. (2020). TYRO3 truncation resulting from a t(10;15)(p11;q15) chromosomal translocation in pediatric acute myeloid Leukemia. Anticancer Research, 40(11), 6115–6121. https://doi.org/10.21873/anticanres.14632