75. Novel complex translocation involving PDGFRA::PRKG2, in a myeloid neoplasm with basophilia sample by OGM

Myeloproliferative neoplasms are often characterized by genetic abnormalities which activate requested new titletyrosine kinases resulting in uncontrolled cell proliferation. Conventional cytogenetic techniques are used to identify these abnormalities but they have low resolution and/or are targeted in nature among other limitations. Optical genome mapping (OGM) overcomes these limitations, providing better detection of structural rearrangements of known clinical relevance. A case where multiple rearrangements which were identified via OGM, leading to a targeted therapy will be presented.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research