{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T14:22:28Z","timestamp":1781101348010,"version":"3.54.1"},"reference-count":45,"publisher":"Harborside Press, LLC","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>Accurate and timely detection of clinically relevant genetic abnormalities, such as <jats:italic>CBFB::MYH11<\/jats:italic> or inversion(16) [inv(16)], is critical for the diagnosis and management of patients with acute myeloid leukemia (AML). Notably, <jats:italic>CBFB::MYH11<\/jats:italic> is a disease-defining mutation in AML and is associated with a favorable prognosis. The current standard-of-care workup, which includes a combination of conventional G-banding karyotyping, fluorescence in situ hybridization (FISH), and\/or reverse-transcriptase PCR, poses challenges in detecting variant <jats:italic>CBFB::MYH11<\/jats:italic> translocations. High-resolution, genome-wide technologies capable of accurate and unbiased detection of chromosomal structural aberrations at the gene\/exon level, such as optical genome mapping (OGM), will be helpful for the timely detection of clinically actionable abnormalities. This case report presents a patient initially diagnosed with therapy-related myelodysplastic syndrome (MDS) following cytotoxic therapy and treated with a hypomethylating agent, who later experienced progression to AML with <jats:italic>CBFB::MYH11<\/jats:italic>. Retrospective analysis of the initial diagnostic sample using OGM revealed a cryptic <jats:italic>CBFB::MYH11<\/jats:italic> abnormality at the time of the first presentation. Furthermore, OGM enabled comprehensive characterization of this novel <jats:italic>CBFB::MYH11<\/jats:italic> transcript with noncanonical breakpoints, which were not detected by standard molecular techniques. This case highlights a critical diagnostic blind spot in the detection of <jats:italic>CBF::MYH11<\/jats:italic> AML, representing a missed opportunity to offer effective frontline therapy to a patient with potentially curable AML\u2014an aberration not recognized by conventional karyotype or FISH at the time of initial diagnosis. The implementation of genome-wide technologies such as OGM as a first-tier diagnostic tool in clinical laboratories for the workup of MDS\/AML is essential for detecting clinically impactful cryptic genomic alterations. The discovery of this novel alternate <jats:italic>CBFB::MYH11<\/jats:italic> transcript with noncanonical breakpoints underscores a major limitation in current standard-of-care techniques, warranting further prospective studies to evaluate its clinical actionability in guiding personalized therapies.<\/jats:p>","DOI":"10.6004\/jnccn.2025.7015","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T16:33:37Z","timestamp":1746808417000},"source":"Crossref","is-referenced-by-count":2,"title":["A Case of Cryptic CBFB::MYH11 Acute Myeloid Leukemia With Noncanonical Breakpoints Detected by Optical Genome Mapping"],"prefix":"10.6004","volume":"23","author":[{"given":"Eduardo","family":"Edelman Saul","sequence":"first","affiliation":[{"name":"Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, 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