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.
Keywords: Pediatric; RNA sequencing; TYRO3 gene; acute myeloid leukemia; chromosome translocation.
Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.