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9 例原发性恶性肿瘤——涉及食管、胃、结肠、直肠、前列腺和外耳道,无微卫星不稳定性:病例报告。

Nine primary malignant neoplasms-involving the esophagus, stomach, colon, rectum, prostate, and external ear canal-without microsatellite instability: a case report.

机构信息

Department of Surgical Oncology, the University of Tokyo, Tokyo, Japan.

Department of Surgical Oncology, University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.

出版信息

BMC Cancer. 2018 Jan 4;18(1):24. doi: 10.1186/s12885-017-3973-2.

DOI:10.1186/s12885-017-3973-2
PMID:29301504
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5753511/
Abstract

BACKGROUND

Although cases of multiple primary malignant neoplasms are increasing, reports of more than three or four primary metachronous malignant neoplasms are extremely rare. Moreover, very few publications have provided a genetic mutational analysis or have evaluated risk factors associated with such neoplasms. We present an extremely rare case of nine primary malignant lesions in a man who was successfully treated. We also report on microsatellite stability status, analyze risk factors, and discuss the relevant literature.

CASE PRESENTATION

Between 67 and 73 years of age, a male patient developed nine primary metachronous malignant lesions: Three were located in the esophagus, two in the stomach, two in the colorectum, one in the prostate gland, and one in the external ear canal. The patient's clinical history included hypertension, atrial fibrillation, an acoustic schwannoma, and heavy smoking. The lesions were diagnosed during regular screening over a six-year period. He was successfully treated with surgery (both open surgical and endoscopic resection of lesions) and adjuvant chemotherapy. Immunohistochemistry and mutational analysis showed that the lesions were microsatellite stable, and the KRAS, BRAF, p53, and nuclear β-catenin status was not uniform among the lesions.

CONCLUSIONS

Given that the presence of more than three or four neoplasms is extremely rare, the present case of nine primary malignancies with no associated microsatellite instability and no apparent predisposing hereditary conditions, is extraordinary. Our case study shows that it is possible for up to nine sporadic neoplasms to occur, and efficient disease management requires diligent screening and early detection.

摘要

背景

尽管多发性原发性恶性肿瘤的病例在不断增加,但报告超过三四个原发性同时性恶性肿瘤的情况极为罕见。此外,很少有出版物提供了遗传突变分析或评估了与这些肿瘤相关的风险因素。我们报告了一例极为罕见的九种原发性恶性病变的男性病例,该患者成功得到了治疗。我们还报告了微卫星稳定性状态,分析了风险因素,并讨论了相关文献。

病例介绍

在 67 至 73 岁之间,一名男性患者发生了九种原发性同时性恶性病变:三种位于食管,两种位于胃,两种位于结肠直肠,一种位于前列腺,一种位于外耳道。该患者的临床病史包括高血压、心房颤动、听神经鞘瘤和大量吸烟。这些病变是在六年的定期筛查中诊断出来的。他通过手术(包括病变的开放性手术和内镜切除术)和辅助化疗成功得到了治疗。免疫组织化学和突变分析表明,病变为微卫星稳定,KRAS、BRAF、p53 和核β-catenin 状态在病变之间并不一致。

结论

鉴于存在三个或四个以上肿瘤的情况极为罕见,本病例中存在九个原发性恶性肿瘤而无相关微卫星不稳定性且无明显遗传倾向的情况非常特殊。我们的病例研究表明,多达九个散发性肿瘤是可能发生的,有效的疾病管理需要进行仔细的筛查和早期检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c56c/5753511/74074c434f18/12885_2017_3973_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c56c/5753511/74074c434f18/12885_2017_3973_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c56c/5753511/74074c434f18/12885_2017_3973_Fig1_HTML.jpg

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Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.早发性结直肠癌患者种系癌症易感性基因突变的流行率和谱。
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