54 例 CDH1 种系致病性突变患者行预防性全胃切除术的近期和远期结局。
Short and long-term outcomes of prophylactic total gastrectomy in 54 consecutive individuals with germline pathogenic mutations in the CDH1 gene.
机构信息
Division of Surgical Oncology, Department of Surgery, Columbia University Irving Medical Center, New York City, New York, USA.
Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York City, New York, USA.
出版信息
J Surg Oncol. 2022 Dec;126(8):1413-1422. doi: 10.1002/jso.27084. Epub 2022 Sep 5.
BACKGROUND
Germline mutation of CDH1 is rare and leads to hereditary diffuse gastric cancer (DGC).
METHODS
Patients (pts) with CDH1 mutation who underwent multidisciplinary counseling followed by open prophylactic total gastrectomy (PTG) by a single surgeon were reviewed.
RESULTS
Fifty-four pts with a median age of 41 years (16-70 years) underwent PTG between 2006 and 2021. Median operative time was 161 min, and median hospital stay was 7 days (range 6-12). There were 5 complications (9.2%) within 30 days, and two complications (pulmonary embolism and pancreatitis) required readmission. There were no anastomotic leaks. The pathologic analysis of the first 10 pts included the entire gastric mucosa, revealing a median of 15 foci of DGC (range 5-136). The subsequent 44 pts with more limited analysis had a median of 2 foci (range 0-5), and two pts (3.7%) had no foci identified. Median maximum weight loss was 19%. In long-term follow-up (median 4.6 years) of 20 pts, median global QOL was 2.0 (very good), the majority had persistent difficulty with certain foods or liquids, and all stated they would again elect PTG over surveillance endoscopy.
CONCLUSIONS
PTG can be performed safely at high-volume referral centers with very good QOL but nutritional sequelae persist.
背景
CDH1 种系突变罕见，可导致遗传性弥漫性胃癌（DGC）。
方法
对接受多学科咨询并由同一位外科医生进行开放式预防性全胃切除术（PTG）的 CDH1 突变患者进行回顾性分析。
结果
54 例患者的中位年龄为 41 岁（16-70 岁），他们在 2006 年至 2021 年间接受了 PTG。中位手术时间为 161 分钟，中位住院时间为 7 天（6-12 天）。30 天内有 5 例（9.2%）并发症，其中 2 例（肺栓塞和胰腺炎）需要再次入院。无吻合口漏。前 10 例患者的病理分析包括整个胃黏膜，发现中位数为 15 个 DGC 病灶（范围 5-136）。随后对 44 例分析范围较小的患者，中位数为 2 个病灶（范围 0-5），有 2 例（3.7%）未发现病灶。中位最大体重减轻为 19%。20 例患者的长期随访（中位随访时间为 4.6 年）中，中位总体生活质量为 2.0（很好），大多数患者仍存在某些食物或液体摄入困难，所有患者均表示会再次选择 PTG 而不是内镜监测。
结论
在高容量转诊中心，PTG 可以安全实施，且生活质量非常好，但仍存在营养后遗症。
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