91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia

Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by characteristic 9;22 translocation leading to the BCR::ABL1 fusion gene on the so-called Philadelphia chromosome. Identification of the common translocation is by conventional cytogenetic methods; detection of rarer and atypical variants of the BCR::ABL1 fusion gene are challenging and often require multiple techniques. Here two cases with CML are presented, each with atypical BCR::ABL1 rearrangements identified with high sensitivity and specificity by optical genome mapping (OGM).

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Trilochan Sahoo, Alex Hastie, Allison Ortega, Anusha Mylavarapu, Beth Matthews, Jen Hauenstein, Alka Chaubey Source Type: research