Detecting the "undetectable" alterations: Use of NGS to uncover high-risk alterations
CANCER GENETICS(2022)
Abstract
Copy number variants are common in patients with myeloid malignancies and may confer diagnostic, prognostic or therapeutic relevance. However, detection of these variants may require multiple testing modalities, which may not be available or ordered on all cases. We present a case that highlights the efficacy of copy number analysis by next generation sequencing to identify clinically relevant variants that may otherwise be missed by conventional cytogenetics and typical florescent in situ hybridization panels. (c) 2022 Elsevier Inc. All rights reserved.
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Key words
MYC amplification, Chromothripsis, KMT2A-PTD, Next generation sequencing, Copy number variant
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