Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Cancer Genet. 2022 Jun;264-265:5-7. doi: 10.1016/j.cancergen.2022.02.005. Epub 2022 Feb 22.
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.
拷贝数变异在髓系恶性肿瘤患者中很常见，可能具有诊断、预后或治疗相关性。然而，这些变异的检测可能需要多种检测方式，而并非所有情况下都能提供或订购这些方式。我们报告了一个病例，该病例强调了下一代测序的拷贝数分析在识别临床上相关的变异方面的功效，这些变异否则可能会被传统细胞遗传学和典型荧光原位杂交面板所遗漏。
