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多灶性肺腺癌中同时存在 EGFR 突变和 ALK 重排:一例报告。

Concomitant EGFR mutation and ALK rearrangement in multifocal lung adenocarcinoma: a case report.

机构信息

Department of Pathology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan, 430022, Hubei, China.

Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

出版信息

Diagn Pathol. 2020 May 6;15(1):42. doi: 10.1186/s13000-020-00969-1.

Abstract

BACKGROUND

The prevalence of EGFR/ALK co-alterations in patients with NSCLC was low. The several previous studies focused on the simultaneous occurrence of EGFR mutations and ALK rearrangements in a unifocal lung cancer. However, the incidence of multifocal pulmonary adenocarcinomas was increasingly encountered in clinical practice, due to the increased availability and improvement of the thoracic imaging. The clinical relevance of EGFR/ALK co-alterations in multifocal adenocarcinomas required detailed investigation as well.

CASE PRESENTATION

We present the case of a 57-year-old woman with solid nodule in the left upper lung and a ground glass nodule in the left lower lobe, who underwent radical operation. Pathological examination confirmed multifocal adenocarcinoma, molecular tests revealed that the left upper lung lesion was positive for ALK rearrangement but the left lower lobe displayed EGFR mutation positive separately. The patient pulmonary lesions were well controlled by adjuvant chemotherapy and radiation therapy. When brain metastases occurred, EGFR-TKI was not effective after firstly administration, while subsequent ALK inhibitors were efficient. We retrospective evaluated the oncogenic status of metastatic lymph nodes and found that the driver gene was ALK rearrangement rather than EGFR mutation.

CONCLUSIONS

The status of the oncogenic mutations in lymph node metastasis may provide some effective hints for metastasis lesion in other organ or tissue. Therefore, it is recommended to fully evaluate the driver genes in lymph node metastasis after radical resection.

摘要

背景

非小细胞肺癌(NSCLC)患者中 EGFR/ALK 共改变的发生率较低。之前的几项研究主要集中在肺癌的单一病灶中同时发生 EGFR 突变和 ALK 重排。然而,由于胸部成像的可用性和改善,越来越多的临床实践中遇到多灶性肺腺癌。因此,需要详细研究 EGFR/ALK 共改变在多灶性腺癌中的临床意义。

病例介绍

我们报告了一例 57 岁女性,左肺上叶有实性结节,左肺下叶有磨玻璃结节,接受了根治性手术。病理检查证实为多灶性腺癌,分子检测显示左肺上叶病变ALK 重排阳性,而下叶则单独显示 EGFR 突变阳性。辅助化疗和放疗使患者的肺部病变得到了很好的控制。当发生脑转移时,EGFR-TKI 首次给药后无效,而随后的 ALK 抑制剂则有效。我们回顾性评估了转移性淋巴结的致癌状态,发现驱动基因是 ALK 重排而不是 EGFR 突变。

结论

淋巴结转移中致癌突变的状态可能为其他器官或组织的转移病灶提供一些有效的提示。因此,建议在根治性切除术后充分评估淋巴结转移中的驱动基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cadd/7201944/245a3e5a7185/13000_2020_969_Fig1_HTML.jpg

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