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Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report
BMC Gastroenterology ( IF 2.4 ) Pub Date : 2021-08-23 , DOI: 10.1186/s12876-021-01902-6
Takayuki Ando 1 , Takahiko Nakajima 2 , Rei Fukuda 3 , Keiko Nomura 4 , Yo Niida 5 , Miho Sakumura 1 , Iori Motoo 1 , Hiroshi Mihara 1 , Sohachi Nanjo 1 , Shinya Kajiura 1 , Haruka Fujinami 1 , Shojo Hojo 6 , Tsutomu Fujii 6 , Ichiro Yasuda 1
Affiliation  

Constitutional mismatch repair deficiency (CMMRD) is an extremely rare autosomal recessive hereditary disease characterized by the absence of mismatch repair gene activity from birth, which results in brain tumors, colonic polyposis, gastrointestinal cancers, and lymphomas later in life. An aggressive approach, including colectomy or proctocolectomy, is recommended for the treatment of colorectal cancer. Additionally, partial colectomy with subsequent endoscopic surveillance may be an alternative strategy due to poor patient’s condition, although there is no evidence of surveillance endoscopy after partial colectomy for CMMRD. A 13-year-old male patient with a history of T-lymphoblastic lymphoma underwent total gastrointestinal endoscopy, which revealed rectal cancer, colorectal polyposis, and duodenal adenoma. Differential diagnosis included constitutional mismatch repair deficiency according to its scoring system and microsatellite instability, and subsequent germline mutation testing for mismatch repair genes confirmed the diagnosis of constitutional mismatch repair deficiency based on a homozygous mutation in mutS homolog 6 (MSH6). The patient and his family refused colectomy due to the high risk of malignancies other than colorectal cancer, which could require radical surgery. Therefore, the patient underwent low anterior resection of the rectosigmoid colon for rectal cancer and intensive surveillance endoscopy for the remaining colon polyposis. During the 3-year period after initial surgery, 130 polyps were removed and the number of polyps gradually decreased during 6-months interval surveillance endoscopies, although only one polyp was diagnosed as invasive adenocarcinoma (pT1). Our experience of short surveillance endoscopy illustrates that this strategy might be one of options according to patient’s condition.

中文翻译:

全身性错配修复缺陷患者多发胃肠道肿瘤的强化监测内镜检查:病例报告

体质性错配修复缺陷 (CMMRD) 是一种极为罕见的常染色体隐性遗传疾病,其特征是从出生时就缺乏错配修复基因活性,这会导致以后的脑肿瘤、结肠息肉病、胃肠道癌症和淋巴瘤。推荐积极的方法,包括结肠切除术或直肠结肠切除术,用于治疗结直肠癌。此外,部分结肠切除术和随后的内镜监测可能是由于患者病情不佳的替代策略,尽管没有证据表明 CMMRD 在部分结肠切除术后进行内镜监测。一名有 T 淋巴细胞淋巴瘤病史的 13 岁男性患者接受了全胃肠道内窥镜检查,结果显示直肠癌、结直肠息肉病和十二指肠腺瘤。鉴别诊断包括根据其评分系统和微卫星不稳定性的体质性错配修复缺陷,随后对错配修复基因的种系突变检测证实了体质性错配修复缺陷的诊断,该诊断基于 mutS 同源物 6 (MSH6) 的纯合突变。患者及其家人拒绝结肠切除术,因为结直肠癌以外的恶性肿瘤风险高,可能需要根治性手术。因此,该患者因直肠癌接受了低位直肠乙状结肠前切除术,并对剩余的结肠息肉进行了强化监测内镜检查。在初次手术后的 3 年期间,切除了 130 个息肉,并且在 6 个月的间隔监测内窥镜期间,息肉的数量逐渐减少,尽管只有一个息肉被诊断为浸润性腺癌(pT1)。我们在短期内窥镜检查的经验表明,根据患者的情况,这种策略可能是一种选择。
更新日期:2021-08-23
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