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乳腺癌并同步多原发肺腺癌伴异质性突变:一例报告。

Breast cancer and synchronous multiple primary lung adenocarcinomas with heterogeneous mutations: a case report.

机构信息

Department of Medical Oncology, The First Hospital, China Medical University, Shenyang, China.

Department of pathology, Shengjing Hospital, China Medical University, Shenyang, China.

出版信息

BMC Cancer. 2018 Nov 20;18(1):1138. doi: 10.1186/s12885-018-5011-4.

Abstract

BACKGROUND

Multiple primary malignant tumors (MPMT) refers to the presence of two or more primary cancers of different organs in the same patient. MPMT is a sparse disease in the past, but there has been a gradual increase in the morbidity. Since multiple primary malignant tumors treatment methods differ, it is essential for clinicians to be able to distinguish between separate primary lesions and metastasis.

CASE PRESENTATION

We present the case of a 57-year-old woman with MPMT presenting with cancer in the left breast and synchronous double primary lung adenocarcinomas. We used IHC and epidermal growth factor receptor(EGFR)mutation to analyze genomic alteration profiles in the patient to validate the difference among the pathological assessments and the clinical differences between double primary lesions of lung and breast. EGFR gene analysis of breast cancer lesion revealed no mutations. The left and right lower lobe lung adenocarcinomas contained EGFR gene mutations: an L858R point mutation in exon 21 in the left lesion and a deletion mutation in exon 19 in the right lesion. The breast cancer and both lung adenocarcinomas were surgically resected. To date, the patient has remained disease-free.

CONCLUSIONS

Both pathological and molecular assessment adapted in the current study appeared necessary. Mutational analysis of the EGFR gene provided important information not only in the diagnosis and but also in the treatment of MPMT.

摘要

背景

多发性原发性恶性肿瘤(MPMT)是指同一患者存在两种或两种以上不同器官的原发性癌症。MPMT 在过去是一种罕见疾病,但发病率逐渐增加。由于多发性原发性恶性肿瘤的治疗方法不同,临床医生能够区分单独的原发性病变和转移是至关重要的。

病例介绍

我们报告了一例 57 岁女性 MPMT 病例,表现为左乳腺癌和同时性双肺原发性肺腺癌。我们使用免疫组织化学(IHC)和表皮生长因子受体(EGFR)突变分析患者的基因组改变谱,以验证病理评估之间的差异以及肺和乳腺双原发性病变之间的临床差异。乳腺癌病变的 EGFR 基因分析未发现突变。左肺下叶和右肺下叶腺癌均含有 EGFR 基因突变:左侧病变的第 21 外显子中的 L858R 点突变和右侧病变中的第 19 外显子缺失突变。乳腺癌和两个肺腺癌均行手术切除。迄今为止,患者无疾病进展。

结论

本研究中进行的病理和分子评估似乎都是必要的。EGFR 基因突变分析不仅在诊断中而且在 MPMT 的治疗中提供了重要信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6245921/5b2baedff568/12885_2018_5011_Fig1_HTML.jpg

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