Hotchen Andrew James, Naidoo Khimara, Lanzon-Miller Sandro
Department of Surgery, Milton Keynes General Hospital, Milton Keynes MK65LD, UK.
Department of Medicine, Milton Keynes General Hospital, Milton Keynes MK65LD, UK.
Ann Med Surg (Lond). 2014 Jun 20;3(3):51-4. doi: 10.1016/j.amsu.2014.06.002. eCollection 2014 Sep.
Gastropancreato-neuroendocrine tumours (GETs) are rare, especially when they occur alongside colorectal adenocarcinoma. Furthermore, multiple GETs occurring within the small bowel are less frequent with only two cases described within the literature.
A healthy 58-year old woman presented with severe gastrointestinal pain and faecal incontinence. Family history revealed consanguineous parents and a brother who had recently died of a gastric GET. First biopsy showed a sigmoid adenocarcinoma. Histology of the resected sigmoid revealed both adenocarcinoma and GET. After this, she presented with small bowel obstruction secondary to multiple ileal and jejunal GETs, also treated with resection. All imaging modalities gave no evidence of extra-intestinal metastasis. The patient received multiple operations and chemotherapy but died 18 months after the original presentation.
A case of such persistent and multiple small bowel GET without extra-intestinal metastasis has yet to be reported within the literature. GETs are rare and typically asymptomatic with a small proportion giving the classical carcinoid syndrome. Surgery is usually reserved for smaller GETs with high five-year survival. Despite this, surgery and chemotherapy were performed and both proved to be ineffective. Furthermore, a genetic basis for GETs is supported in this case with her brother suffering a similar fatal tumour.
This case highlights a rare GET that has a likely underlying familial origin. It illustrates the non-specific presentation of these tumours and the importance of taking a thorough family history. It also demonstrates that these tumours can be fatal even in the absence of extra-intestinal metastasis.
胃胰神经内分泌肿瘤（GETs）较为罕见，尤其是当它们与结直肠癌同时发生时。此外，小肠内发生多发性GETs的情况更为少见，文献中仅描述了两例。
一名58岁健康女性出现严重的胃肠道疼痛和大便失禁。家族史显示其父母为近亲结婚，且有一个哥哥最近死于胃GET。首次活检显示为乙状结肠癌。切除的乙状结肠组织学检查显示既有腺癌又有GET。此后，她因多发性回肠和空肠GETs继发小肠梗阻，也接受了切除术。所有影像学检查均未发现肠外转移的证据。患者接受了多次手术和化疗，但在初次就诊后18个月死亡。
文献中尚未报道过如此持续性且多发性小肠GETs而无肠外转移的病例。GETs罕见，通常无症状，只有一小部分会出现典型的类癌综合征。手术通常适用于较小的GETs，其五年生存率较高。尽管如此，该患者接受了手术和化疗，但均证明无效。此外，该病例支持GETs有遗传基础，因为她的哥哥也患了类似的致命肿瘤。
本病例突出了一种罕见的GETs，其可能有潜在的家族起源。它说明了这些肿瘤的非特异性表现以及详细询问家族史的重要性。它还表明，即使没有肠外转移，这些肿瘤也可能是致命的。
