"Gr.T.Popa" University of Medicine and Pharmacy Iasi, Romania. .
Gr. T. Popa University of Medicine and Pharmacy, Iași; Oncology Dept., Regional Institute of Oncology, Iași, Romania. .
J Gastrointestin Liver Dis. 2020 Jun 3;29(2):251-256. doi: 10.15403/jgld-1003.
The coexistence of RAS and BRAF mutations is extremely rare, occurring in approximately 0.05% of patients with metastatic colorectal cancer (mCRC). Starting from a case presentation, this review aims to examine the prevalence, clinical, histopathological and molecular features of tumors with concomitant mutations.
Case report and systematic review. We performed a systematic literature search in PubMed and EMBASE using the following MeSH terms: "coexistence" OR "concomitant" AND "RAS" AND "BRAF" AND "colorectal cancer" from the inception of the databases onwards.
We present the case of a 53-year-old man diagnosed with metastatic rectal adenocarcinoma with both a KRAS and a BRAF mutation. The review included eleven papers reporting on a total of 30 mCRC cases with concomitant RAS and BRAF mutations. The male/female ratio was 11/5. The average age was 58.5 years. The tumor was located in nine cases on the right colon and in two cases in the left colon. 43.3% of subjects had liver metastases, and 6.6% had lung metastases. Next-generation sequencing (NGS) was used in 36.6% of cases and polymerase chain reaction (PCR) in 16.6% of cases. KRAS mutations were present in 83.3% of patients and NRAS mutations in 16.6% of patients. Survival could be assessed in 10 patients and the median was 21.1 months (about 30% lower than the survival in the general mCRC population).
The results of this systematic review suggest the need to design a cohort study (either prospective or retrospective) to better characterize the patients with concomitant RAS and BRAF mutations and to establish the optimal treatment for this rare situation.
RAS 和 BRAF 突变同时存在极为罕见，约占转移性结直肠癌（mCRC）患者的 0.05%。本研究从一个病例报告出发，旨在探讨同时存在这两种突变的肿瘤的流行率、临床、组织病理学和分子特征。
病例报告和系统综述。我们在 PubMed 和 EMBASE 中使用以下 MeSH 术语进行了系统文献检索：“共存”或“同时存在”和“RAS”和“BRAF”和“结直肠癌”，检索时间从数据库建立开始。
我们报告了一名 53 岁男性患者的病例，该患者被诊断为同时存在 KRAS 和 BRAF 突变的转移性直肠腺癌。该综述纳入了 11 篇报告共 30 例 mCRC 患者同时存在 RAS 和 BRAF 突变的病例。男性/女性比例为 11/5。平均年龄为 58.5 岁。肿瘤位于 9 例右结肠和 2 例左结肠。43.3%的患者有肝转移，6.6%的患者有肺转移。下一代测序（NGS）在 36.6%的病例中使用，聚合酶链反应（PCR）在 16.6%的病例中使用。83.3%的患者存在 KRAS 突变，16.6%的患者存在 NRAS 突变。可评估 10 例患者的生存情况，中位生存时间为 21.1 个月（比一般 mCRC 患者的生存时间低约 30%）。
本系统综述的结果表明，有必要设计一项队列研究（前瞻性或回顾性），以更好地描述同时存在 RAS 和 BRAF 突变的患者，并为这种罕见情况确定最佳治疗方案。
