| Autor: |
PANAGOPOULOS, IOANNIS, ANDERSEN, KRISTIN, STAVSETH, VIDAR, TORKILDSEN, SYNNE, HEIM, SVERRE, TANDSÆTHER, MAREN RANDI |
| Předmět: |
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| Zdroj: |
Cancer Genomics & Proteomics (1109-6535); May/Jun2024, Vol. 21 Issue 3, p272-284, 13p |
| Abstrakt: |
Background/Aim: Constitutional chromosomal aberrations are rare in hematologic malignancies and their pathogenetic role is mostly poorly understood. We present a comprehensive molecular characterization of a novel constitutional chromosomal translocation found in two siblings - sisters - diagnosed with myelodysplastic syndrome (MDS). Materials and Methods: Bone marrow and blood cells from the two patients were examined using G-banding, RNA sequencing, PCR, and Sanger sequencing. Results: We identified a balanced t(17;19)(q21;p13) translocation in both siblings' bone marrow, blood cells, and phytohemagglutinin-stimulated lymphocytes. The translocation generated a MYO1F::WNK4 chimera on the der(19)t(17;19), encoding a chimeric serine/threonine kinase, and a VPS25::MYO1F on the der(17), potentially resulting in an aberrant VPS25 protein. Conclusion: The t(17;19)(q21;p13) translocation found in the two sisters probably predisposed them to myelodysplasia. How the MYO1F::WNK4 and/or VPS25::MYO1F chimeras, perhaps especially MYO1F::WNK4 that encodes a chimeric serine/threonine kinase, played a role in MDS pathogenesis, remains incompletely understood. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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