Incidental discovery of acute myeloid leukemia during liquid biopsy of a lung cancer patient.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2022-06-22 Print Date: 2022-06-01 DOI:10.1101/mcs.a006201
Dingani Nkosi, Caroline A Miller, Audrey N Jajosky, Zoltán N Oltvai
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引用次数: 2

Abstract

Liquid biopsy is considered an alternative to standard next-generation sequencing (NGS) of solid tumor samples when biopsy tissue is inadequate for testing or when testing of a peripheral blood sample is preferred. A common assumption of liquid biopsies is that the NGS data obtained on circulating cell-free DNA is a high-fidelity reflection of what would be found by solid tumor testing. Here, we describe a case that challenges this widely held assumption. A patient diagnosed with lung carcinoma showed pathogenic IDH1 and TP53 mutations by liquid biopsy NGS at an outside laboratory. Subsequent in-house NGS of a metastatic lymph node fine-needle aspiration (FNA) sample revealed two pathogenic EGFR mutations. Morphologic and immunophenotypic assessment of the patient's blood sample identified acute myeloid leukemia, with in-house NGS confirming and identifying pathogenic IDH1, TP53, and BCOR mutations, respectively. This case, together with a few similar reports, demonstrates that caution is needed when interpreting liquid biopsy NGS results, especially if they are inconsistent with the presumptive diagnosis. Our case suggests that routine parallel sequencing of peripheral white blood cells would substantially increase the fidelity of the obtained liquid biopsy results.

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在肺癌患者的液体活检中偶然发现急性髓性白血病。
当活检组织不足以进行检测或首选外周血样本检测时,液体活检被认为是实体肿瘤样本标准下一代测序(NGS)的替代方法。液体活检的一个普遍假设是,从循环无细胞DNA中获得的NGS数据是实体肿瘤检测结果的高保真反映。在这里,我们描述了一个挑战这种广泛持有的假设的案例。一个被诊断为肺癌的患者在外部实验室通过液体活检NGS显示致病性IDH1和TP53突变。随后的内部NGS转移淋巴结细针穿刺(FNA)样本显示两个致病性EGFR突变。患者血液样本的形态学和免疫表型评估鉴定为急性髓系白血病,内部NGS分别确认和鉴定致病性IDH1、TP53和bor突变。本病例以及一些类似的报告表明,在解释液体活检NGS结果时需要谨慎,特别是当它们与推定诊断不一致时。我们的病例表明,常规外周血平行测序将大大增加所获得的液体活检结果的保真度。
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来源期刊
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.20
自引率
0.00%
发文量
54
期刊介绍: Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.
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