Vesa Alexandra, Maghiar Octavian, Molnar Ottó, Pop Ovidiu, Maghiar Adrian
Morphological Sciences, University of Oradea, Faculty of Medicine and Pharmacy, Oradea, ROU.
Surgical Sciences, University of Oradea, Faculty of Medicine and Pharmacy, Oradea, ROU.
Cureus. 2024 Sep 9;16(9):e68975. doi: 10.7759/cureus.68975. eCollection 2024 Sep.
Colorectal cancer (CRC) brain metastasis (BM) is a rare but aggressive manifestation of the disease, with poor prognosis and limited treatment options. Although brain metastases are more commonly associated with primary tumors located in the lung, skin, and breast, their occurrence in colorectal cancer is uncommon. Genetic mutations are highly important in tumor progression, and mutations in KRAS and BRAF genes are key drivers in colorectal cancer. However, the concurrent presence of both mutations is exceedingly rare. This case report presents a unique instance of colorectal cancer brain metastasis harboring both KRAS and BRAF mutations, highlighting its clinical significance and therapeutic challenges. We present the case of a 62-year-old male patient diagnosed with brain metastasis (in the cerebellum and right parietal lobe) who presented to the hospital with neurological symptoms. He underwent a CT imaging investigation that revealed multiple tumors. Subsequent biopsies confirmed the diagnosis of brain metastasis, with histological characteristics consistent with colonic adenocarcinoma. Tests also revealed aberrant expression of both KRAS and BRAF mutations. This case highlights the importance of considering brain metastases in colorectal cancer patients due to their detrimental effects on prognosis and survival rates. Additionally, the simultaneous presence of BRAF and KRAS mutations, in this case, adds an extra layer of complexity and severity.
结直肠癌（CRC）脑转移（BM）是该疾病一种罕见但侵袭性的表现，预后较差且治疗选择有限。虽然脑转移更常与位于肺、皮肤和乳腺的原发性肿瘤相关，但在结直肠癌中其发生并不常见。基因突变在肿瘤进展中非常重要，KRAS和BRAF基因的突变是结直肠癌的关键驱动因素。然而，这两种突变同时存在极为罕见。本病例报告展示了一例同时存在KRAS和BRAF突变的结直肠癌脑转移的独特病例，突出了其临床意义和治疗挑战。我们报告一例62岁男性患者，诊断为脑转移（位于小脑和右顶叶），因神经症状入院。他接受了CT成像检查，发现多处肿瘤。随后的活检确诊为脑转移，组织学特征与结肠腺癌一致。检测还显示KRAS和BRAF均有突变表达异常。该病例突出了考虑结直肠癌患者发生脑转移的重要性，因为其对预后和生存率有不利影响。此外，在本病例中BRAF和KRAS突变同时存在，增加了额外的复杂性和严重性。
