104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS

A 23-month-old male with known T-ALL had G-banding finding of monosomy 7 in 13 (59%) of the 22 metaphases analyzed from the bone marrow (BM). This, together with pathologic findings, confirmed the diagnosis of Juvenile myelomonocytic leukemia (infantile monosomy 7 syndrome).BM studies of microsatellites statues and tumor mutational burden showed no findings of therapy or clinical trial options. BM NGS identified gene alterations, including 1) ASXL1-G646fs*12 (NM_015338; 1934_1935insG), with uncertain significance in treatment; and 2) NOTCH1-Q2459fs*18(NM_017617; 73775delC); mutation of the gene commonly seen in T-ALL with a poor prognosis.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Jie Xu, Melissa Stalling, Mark Steele, Daniel Pettee, Catherine Brownstein, Sarah Ossler, Carrie Costin Source Type: research