Sarfraz Humaira, Arain Abeer, Divatia Mukul K, Schwartz Mary R, Heyne Kirk E
Houston Methodist Hospital, 6565 Fannin St, Smith Suite 1001, Houston, TX, 77030, USA.
Houston Methodist Cancer Center, Houston, TX, 77030, USA.
Cardiooncology. 2021 May 31;7(1):21. doi: 10.1186/s40959-021-00108-9.
Cardiac metastasis due to colon cancer is extraordinarily uncommon. Given the rarity of diagnosis, there is paucity of evidence and hence, no established guidelines for evaluation or clinical management strategy.
We present the case of a 59 year old male with a previously treated colonic carcinoma who presented with new onset exertional dyspnea. He was noted to be having a right atrial mass on an echocardiogram performed at his cardiologist's office. Further workup with CT angiogram of the chest confirmed a right atrial mass measuring 4.0 cm. Serum CEA was normal. Biopsies of the right atrial mass demonstrated metastatic moderately differentiated colonic adenocarcinoma. Mismatch repair protein expression analysis by immunohistochemistry showed no loss of MLH1, MSH2, MSH6 or PMS2 expression. Next generation sequencing for RAS and BRAF mutations was negative. Patient received treatment with FOLFIRINOX/ bevacizumab with noted reduction in size of mass.
To the best of our knowledge, this is the first report of next generation sequencing results available on a biopsy of metastatic colorectal cancer to the heart with the largest literature review of 31 reported cases of metastatic colorectal cancer to the heart. It will help direct clinical management and also adds evidence to the potential efficacy of treatment of this rare aggressive disease with chemotherapy in combination with VEGF inhibitors.
结肠癌导致的心脏转移极为罕见。鉴于诊断的罕见性，证据匮乏，因此尚无既定的评估指南或临床管理策略。
我们报告一例59岁男性病例，该患者既往有结肠癌治疗史，现出现新发劳力性呼吸困难。在其心脏病专家办公室进行的超声心动图检查发现他右心房有肿块。胸部CT血管造影进一步检查证实右心房有一个4.0厘米的肿块。血清癌胚抗原正常。右心房肿块活检显示为转移性中分化结肠腺癌。免疫组化法检测错配修复蛋白表达分析显示MLH1、MSH2、MSH6或PMS2无表达缺失。RAS和BRAF突变的二代测序结果为阴性。患者接受了FOLFIRINOX/贝伐单抗治疗，肿块大小明显缩小。
据我们所知，这是第一份关于转移性结直肠癌心脏活检的二代测序结果报告，并对31例转移性结直肠癌心脏病例进行了最大规模的文献综述。这将有助于指导临床管理，并为化疗联合VEGF抑制剂治疗这种罕见的侵袭性疾病的潜在疗效增添证据。
