Cavalla Cristián, Oppliger Federico, Schiappacasse Giancarlo, Valderrama Rodrigo, Castiblanco Adriana, Margarit Sonia
Surgery Department, Clínica Alemana/Universidad del Desarrollo, Santiago, Región Metropolitana, 7650568, Chile.
Radiology Department, Clínica Alemana/Universidad del Desarrollo, Santiago, Región Metropolitana, 7650568, Chile.
Int J Surg Case Rep. 2018;42:250-253. doi: 10.1016/j.ijscr.2017.12.028. Epub 2017 Dec 27.
Adenocarcinoma of the small bowel is a rare neoplasm presented usually in elder patients as a single tumor. Its presentation as multiple tumors and in young patients is exceptional and there aren't any guidelines to orient its therapy.
We present the rare case of a sixteen-year-old woman that presents to the emergency department with an intussusception due to a small bowel tumor. The resected specimen showed multiple adenocarcinomas. A complete endoscopic and PET-CT study showed other 5 lesions from the duodenum to the ileum that were resected. Genetic counseling showed no pathogenic changes. The final staging was T2N0M0 and only surveillance was indicated. The patient is now 3 years without any recurrence.
Multiple adenocarcinomas of the small bowel are a very infrequent presentation of the disease. Most common risk factors include Crohn disease and adenomas. Its presentation is usually vague with a delay in its diagnosis. The treatment remains mainly surgical with limited use of adjuvant therapy. The most important prognostic factor is lymph node involvement with 5-year survival that can range from 3%-60% depending on the stage.
This case represents an exceptional presentation of a very rare pathology with few cases described in the literature. There isn't one single best study to stage the patient and surgery is still the standard of treatment while adjuvant therapies studies are being conducted. The young age and lack of predisposing factors or mutations leaves an open field for investigation.
小肠腺癌是一种罕见的肿瘤,通常在老年患者中表现为单个肿瘤。其以多发肿瘤形式出现且发生于年轻患者的情况极为罕见,目前尚无指导其治疗的指南。
我们报告了一例罕见病例,一名16岁女性因小肠肿瘤导致肠套叠而被送往急诊科。切除的标本显示为多发腺癌。完整的内镜检查和PET-CT研究显示,从十二指肠到回肠还有另外5个病灶被切除。基因咨询显示无致病变化。最终分期为T2N0M0,仅建议进行监测。该患者目前已3年无任何复发。
小肠多发腺癌是该疾病非常罕见的一种表现形式。最常见的危险因素包括克罗恩病和腺瘤。其表现通常不明确,诊断往往延迟。治疗仍以手术为主,辅助治疗使用有限。最重要的预后因素是淋巴结受累情况,5年生存率根据分期不同,范围在3%至60%之间。
本病例代表了一种非常罕见病理的特殊表现形式,文献中报道的病例很少。对于该患者分期,没有一种单一的最佳检查方法,手术仍是治疗的标准,同时辅助治疗的研究也在进行中。患者年轻且无易感因素或突变,这为进一步研究留下了广阔空间。