ctDNA facilitated the diagnosis of a patient with synchronous urothelial carcinoma and non-small cell lung cancer: case report.
ctDNA facilitated the diagnosis of a patient with synchronous urothelial carcinoma and non-small cell lung cancer: case report.
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DOI：
10.21037/atm-20-6552
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发表时间：
2020-10
影响因子：
--
通讯作者：
Wang D
中科院分区：
文献类型：
--
作者：
Qian C;Dai N;Xu M;Luo H;Feng Y;Zhang M;Chen R;Wang D
多原发性癌症的诊断和治疗一直是临床实践中的巨大挑战。循环肿瘤 DNA (ctDNA) 是在血液中循环的肿瘤来源的 DNA 片段。在此，我们报道了 ctDNA 促进同时性尿路上皮癌（UC）和肺腺癌诊断的案例。一名 58 岁男性患者最初被诊断为 UC。计算机断层扫描（CT）显示手术和辅助化疗后出现多处转移，但没有脑部。然而，患者在系统治疗期间出现了逐渐恶化的头痛症状。我们使用下一代测序（NGS）探索基因组变异。从 UC 手术组织和术后 ctDNA 中检测到 HRAS 和 TP53 突变。出乎意料的是，在非小细胞肺癌（NSCLC）中常见的表皮生长因子受体（EGFR）外显子19缺失（19del）突变也在ctDNA中被发现。颈部淋巴结的病理分析证实来自肺的腺癌。同时，颈部淋巴结活检检测到EGFR 19del。 ctDNA 包含 UC 和肺腺癌衍生的突变。因此，诊断被修改为同步UC和肺腺癌。有趣的是，肺腺癌衍生病变对奥希替尼（80mg，每日一次）反应良好，而 UC 则不然。他的头痛很快就减轻并消失了。该病例表明，ctDNA 分析可以更好地捕获患者体内多个原发肿瘤所具有的分子异质性，并可以促进同时患有癌症的患者的诊断和治疗。
The diagnosis and treatment for multiple primary cancers have been a great challenge in clinical practice. Circulating tumor DNA (ctDNA) is tumor-derived fragmented DNA that circulates in the blood. Herein we report a case that ctDNA facilitated the diagnosis of synchronous urothelial carcinoma (UC) and lung adenocarcinoma. A 58-year-old male patient was diagnosed with UC initially. Computed tomography (CT) revealed multiple metastases without the brain after surgery and adjuvant chemotherapy. However, the patient had a progressively worsened headache symbol during system therapy. We explored the genome variations using next-generation sequencing (NGS). HRAS and TP53 mutations were detected from UC surgical tissue and postoperative ctDNA. Unexpectedly, the epidermal growth factor receptor (EGFR) exon 19 deletion (19del) mutation, which is common in non-small cell lung cancer (NSCLC), was also identified in ctDNA. Pathological analysis of a neck lymph node confirmed adenocarcinoma derived from the lung. Meanwhile, EGFR 19del was detected in neck lymph node biopsy. The ctDNA contained both UC and lung adenocarcinoma-derived mutations. Thus, the diagnosis was modified into synchronous UC and lung adenocarcinoma. Interestingly, the lung adenocarcinoma-derived lesions responded well to osimertinib (80mg, once daily), while the UC did not. His headache rapidly subsided and disappeared. This case demonstrates that ctDNA analysis may better capture the molecular heterogeneity harbored by multiple primary tumors in a patient and can facilitate the diagnosis and therapy of patients with simultaneous cancers.
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DOI：
10.1158/1078-0432.ccr-16-3133
发表时间：
2017-08-01
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Kato S;Goodman A;Walavalkar V;Barkauskas DA;Sharabi A;Kurzrock R
通讯作者：
Kurzrock R
影响因子：
45.3
作者：
Shiels, Meredith S.;Gibson, Todd;Morton, Lindsay M.
通讯作者：
Morton, Lindsay M.
影响因子：
11.5
作者：
Mok, Tony;Wu, Yi-Long;Wu, Lin
通讯作者：
Wu, Lin
影响因子：
28.4
作者：
Reinert, Thomas;Henriksen, Tenna Vesterman;Andersen, Claus Lindbjerg
通讯作者：
Andersen, Claus Lindbjerg
影响因子：
254.7
作者：
Jemal, Ahmedin;Siegel, Rebecca;Ward, Elizabeth
通讯作者：
Ward, Elizabeth