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伴有微卫星高度不稳定(MSI-high)和BRAF V600E突变的盲肠癌皮肤转移:一例报告

Cutaneous metastasis of cecum cancer with MSI-high and BRAFV600E mutation: a case report.

作者信息

Yunoki Kosuke, Yano Takuya, Yoshimitsu Masanori, Oshita Ko, Kubota Tetsushi, Ishida Michihiro, Satoh Daisuke, Choda Yasuhiro, Nakano Kanyu, Shirakawa Yasuhiro, Matsukawa Hiroyoshi, Idani Hitoshi, Shiozaki Shigehiro, Okajima Masazumi

机构信息

Department of Surgery, Hiroshima City Hiroshima Citizens Hospital, 7-33 Motomachi, Naka-ku, Hiroshima, 730-8518, Japan.

Department of Gastroenterological and Transplant Surgery, Applied Life Sciences, Institute of Biomedical & Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

出版信息

Surg Case Rep. 2021 Aug 18;7(1):185. doi: 10.1186/s40792-021-01265-w.

Abstract

BACKGROUND

Cutaneous metastases of colorectal cancer (CRC) are rare, occurring in 0.7% to 5% of cancer patients. Furthermore, the molecular subtypes of cutaneous metastasis of CRC are unclear. Here, we present a rare case of cutaneous metastasis of high-frequency microsatellite instability (MSI-high)/BRAFV600E-mutant cecum cancer.

CASE PRESENTATION

A 77-year-old woman presented at the outpatient clinic with a subcutaneous mass on her left back. An excisional biopsy was performed and metastatic cutaneous adenocarcinoma was diagnosed. A computed tomography scan of the thorax and abdomen showed thickening of the cecum wall, the presence of pericolic lymph nodes, multiple masses in the liver, and a single nodule in the right lung. Right colectomy with D2 lymphadenectomy and functional end-to-end anastomosis was performed because of the almost-complete intestinal obstruction. The expression of KRAS wild type, BRAFV600E mutation, and MSI-high was detected in the cecum cancer using molecular pathological examination. She received chemotherapy with XELOX + BEV regimen (capecitabine + oxaliplatin + bevacizumab). After four administrations, a computed tomography scan showed reduction of distant metastases, which suggested partial response.

CONCLUSIONS

We encountered a rare case of cutaneous metastasis of MSI-high and BRAFV600E-mutant cecum cancer. In the future, it will be necessary to accumulate more cases to identify clinical features and more effective treatments for CRCs with cutaneous metastasis.

摘要

背景

结直肠癌(CRC)的皮肤转移罕见,在0.7%至5%的癌症患者中发生。此外,CRC皮肤转移的分子亚型尚不清楚。在此,我们报告一例高频微卫星不稳定(MSI-High)/BRAFV600E突变的盲肠癌皮肤转移罕见病例。

病例介绍

一名77岁女性因左背部皮下肿块就诊于门诊。进行了切除活检,诊断为转移性皮肤腺癌。胸部和腹部计算机断层扫描显示盲肠壁增厚、结肠周围淋巴结肿大、肝脏多发肿块以及右肺单个结节。由于几乎完全性肠梗阻,行右半结肠切除术加D2淋巴结清扫术及功能性端端吻合术。通过分子病理检查在盲肠癌中检测到KRAS野生型、BRAFV600E突变和MSI-High的表达。她接受了XELOX + BEV方案(卡培他滨+奥沙利铂+贝伐单抗)化疗。四次给药后,计算机断层扫描显示远处转移灶缩小,提示部分缓解。

结论

我们遇到一例MSI-High和BRAFV600E突变的盲肠癌皮肤转移罕见病例。未来,有必要积累更多病例以明确临床特征并为CRC皮肤转移找到更有效的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20bc/8374022/e5b027e6089f/40792_2021_1265_Fig1_HTML.jpg

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