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BRAF 突变型直肠癌患者的罕见转移:脉络膜转移——病例报告及文献综述

Rare metastasis in a patient with BRAF-mutated rectal cancer: choroidal metastasis - case report and literature review.

作者信息

Demir Hacer, Ekim Mustafa Muhterem, Özgül Esra, Davarci Sena Ece, Baykara Meltem

机构信息

Department of Medical Oncology, Afyonkarahisar University of Health and Sciences, Afyonkarahisar, Turkey.

Department of Ophthalmology, Park Hayat Hospital, Afyonkarahisar, Turkey.

出版信息

GMS Ophthalmol Cases. 2024 Apr 19;14:Doc03. doi: 10.3205/oc000235. eCollection 2024.

DOI:10.3205/oc000235
PMID:38774401
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11106631/
Abstract

PURPOSE

Colorectal cancers are common and have high mortality, and metastasis is common in follow up. Choroidal metastasis is encountered rarely in rectum cancers, and there is no previous case reported from Turkey. We present our patient who developed choroidal metastasis in his cancer follow-up.

CASE REPORT

A 74-year-old male patient had undergone operation due to the diagnosis of rectum cancer two years ago, and lung (L) metastasis developed in the 4 month after the adjuvant therapy, but he refused to receive treatment and remained out of follow-up. The patient presented with complaints of decreased vision and light flashes in his eye 21 months after the diagnosis.

MANAGEMENT AND OUTCOME

Ocular examination revealed a choroidal mass and radiologically choroidal and multiple brain metastases were detected. In our case, whole-brain radiotherapy was administered in the treatment since there were also multiple brain metastases. However, as the ECOG (Eastern Cooperative Oncology Group) performance status of the patient was 3-4 after radiotherapy, systemic treatment was not considered appropriate, and the best supportive care was given. The patient died 2 months after the diagnosis of choroidal metastasis.

CONCLUSION

Currently, there are few suggestions in case reports regarding appropriate treatment approaches for the treatment of rectal cancerchoroidal metastases. Multidisciplinary approaches may be effective for local and systemic treatment. Our case highlights a pathological entity with poor prognosis, which is rarely encountered during the course of rectal adenocarcinomas, and it is the first case of choroidal metastasis reported from our country. However, we believe that it will be important to draw attention to the fact that it is the first reported case of choroid metastasis in a rectal cancer patient with a BRAF V600 E mutation, and patients with BRAF V600 E mutation may develop metastasis to atypical areas due to their aggressive biology.

摘要

目的

结直肠癌很常见且死亡率高,随访中转移很常见。脉络膜转移在直肠癌中很少见,土耳其此前没有相关病例报道。我们报告了一名在癌症随访中发生脉络膜转移的患者。

病例报告

一名74岁男性患者两年前因直肠癌诊断接受了手术,辅助治疗4个月后出现肺转移,但他拒绝接受治疗且未进行随访。患者在诊断21个月后出现视力下降和眼部闪光的症状。

治疗与结果

眼部检查发现脉络膜肿物,影像学检查发现脉络膜及多发脑转移。在我们的病例中,由于也存在多发脑转移,治疗时给予了全脑放疗。然而,放疗后患者的东部肿瘤协作组(ECOG)体能状态为3 - 4,因此认为不适合进行全身治疗,给予了最佳支持治疗。患者在脉络膜转移诊断后2个月死亡。

结论

目前,病例报告中关于直肠癌脉络膜转移的适当治疗方法的建议很少。多学科方法可能对局部和全身治疗有效。我们的病例突出了一种预后不良的病理实体,在直肠腺癌病程中很少遇到,这是我国报道的首例脉络膜转移病例。然而,我们认为重要的是要注意到这是首例报道的具有BRAF V600 E突变的直肠癌患者发生脉络膜转移的病例,并且具有BRAF V600 E突变的患者由于其侵袭性生物学行为可能会发生非典型部位的转移。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/001a/11106631/ddf3b44cfbf3/OC-14-03-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/001a/11106631/09f158685fa4/OC-14-03-t-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/001a/11106631/b49c585b8b88/OC-14-03-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/001a/11106631/ddf3b44cfbf3/OC-14-03-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/001a/11106631/09f158685fa4/OC-14-03-t-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/001a/11106631/b49c585b8b88/OC-14-03-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/001a/11106631/ddf3b44cfbf3/OC-14-03-g-002.jpg

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Anticancer Drugs. 2020 Jul;31(6):545-557. doi: 10.1097/CAD.0000000000000940.
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Photodynamic Therapy of Presumed Choroidal Metastasis Secondary to Colorectal Carcinoma: Literature Review.
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Case Rep Ophthalmol Med. 2020 Jan 30;2020:6490535. doi: 10.1155/2020/6490535. eCollection 2020.
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Cancer statistics, 2019.癌症统计数据,2019 年。
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Uveal Metastasis: Clinical Features and Survival Outcome of 2214 Tumors in 1111 Patients Based on Primary Tumor Origin.葡萄膜转移瘤:基于原发肿瘤起源的1111例患者中2214个肿瘤的临床特征及生存结果
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