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19号外显子EGFR发生罕见插入突变的肺腺癌对吉非替尼部分缓解:一例报告

Adenocarcinoma of the lung with rare insertion mutation in EGFR exon 19 that had partial response to gefitinib: a case report.

作者信息

Kozlov V, Karpov I, Kovalenko S, Shamanin V

机构信息

Thoracic Department, Regional Cancer Hospital, Novosibirsk 630108, Russia.

BioLink Ltd, Novosibirsk 630055, Russia.

出版信息

Exp Oncol. 2017 Jul;39(2):155-156.

Abstract

AIM

Classic activating mutations L858R and deletions in exon 19 (19del) in the gene for epidermal growth factor receptor (EGFR) are associated with sensitivity of the non-small cell lung cancer (NSCLC) to therapy with tyrosine kinase inhibitors (TKI). Insertions in EGFR exon 19 (19ins) are rare mutations in NSCLC; response of cases with 19ins to TKI is not well studied. Here we report a case of NSCLC with 19ins in a Russian patient who was treated with gefitinib. We also overview cases of 19ins reported in the literature.

CASE DESCRIPTION

A 48 years old female Russian patient was diagnosed with adenocarcinoma of the lung (T3N2M1, stage IV). Mutation 19ins was detected in the tumor biopsy by fragment analysis and genotyped by Sanger sequencing as p.I744_K745insKIPVAI. Treatment with gefitinib (250 mg/day) resulted in clinical and radiological improvements scored as partial response that lasted 12 months.

CONCLUSION

Treatment with gefitinib of lung adenocarcinoma that carries mutation EGFR 19ins can result in durable response.

摘要

目的

表皮生长因子受体(EGFR)基因中的经典激活突变L858R和第19外显子缺失(19del)与非小细胞肺癌(NSCLC)对酪氨酸激酶抑制剂(TKI)治疗的敏感性相关。EGFR第19外显子插入(19ins)在NSCLC中是罕见突变;19ins病例对TKI的反应尚未得到充分研究。在此,我们报告1例俄罗斯NSCLC患者发生19ins并接受吉非替尼治疗的病例。我们还概述了文献中报道的19ins病例。

病例描述

一名48岁的俄罗斯女性患者被诊断为肺腺癌(T3N2M1,IV期)。通过片段分析在肿瘤活检中检测到19ins突变,并通过桑格测序将其基因分型为p.I744_K745insKIPVAI。吉非替尼(250毫克/天)治疗导致临床和影像学改善,评分为部分缓解,持续12个月。

结论

携带EGFR 19ins突变的肺腺癌患者使用吉非替尼治疗可产生持久反应。

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