Sandru Florica, Carsote Mara, Valea Ana, Albu Simona Elena, Petca Răzvan-Cosmin, Dumitrascu Mihai Cristian
Department of Dermatology, 'Elias' Emergency University Hospital, 125100 Bucharest, Romania.
Department of Dermatology, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Exp Ther Med. 2020 Oct;20(4):3383-3388. doi: 10.3892/etm.2020.8965. Epub 2020 Jul 3.
Somatostatinoma is a tumour mainly originating from pancreas or duodenum; overall with an incidence of 1/40 million persons. We introduce a narrative review of literature of somatostatinoma including the relationship with neurofibromatosis type 1. Clinical presentation includes: Diabetes mellitus, cholelithiasis, steatorrhea, abdominal pain, and obstructive jaundice while papillary tumour may cause acute pancreatitis. The neoplasia may develop completely asymptomatic or it is detected as an incidental finding during an imaging or a surgical procedure. It may be sporadic or associated to genetic backgrounds especially for duodenal localisation as neurofibromatosis type 1 ( gene with malfunction of RAS/MAPK pathway) or Pacak-Zhuang syndrome ( gene encoding HIF). Surgery represents the central approach if feasible but the prognostic depends on location, and grading as indicated by WHO 2017 classification of neuroendocrine tumours. Previously known as Von Recklinghausen disease, neurofibromatosis type 1, the most frequent neurocutaneous syndrome, is an autosomal dominant disorder including: Café-au-lait spot, skin fold freckling on flexural zones, and neurofibromas as well as tumours such as gliomas of optic nerve, gastrointestinal stromal tumours (GISTs), iris hamartomas and brain tumours. Duodenal somatostatinoma is associated with the syndrome which actually involves more often a duodenal tumour of GIST type than a somatostatin secreting neoplasia. Other neuroendocrine tumours are reported: Gastrointestinal NENs at the level of rectum or jejunum and pheocromocytoma. Overall, one quarter of subjects have gastrointestinal tumours of different types. Somatostatinoma, when not located on pancreas but in duodenoum, may be registered in subjects with neurofibromatosis type 1 most probably in addition to other tumours. Overall, this type of neuroendocrine tumour with a challenging presentation has a poor prognosis unless adequate radical surgery is promptly offered to the patient.
生长抑素瘤是一种主要起源于胰腺或十二指肠的肿瘤；总体发病率为每4000万人中有1例。我们对生长抑素瘤的文献进行了叙述性综述，包括其与1型神经纤维瘤病的关系。临床表现包括：糖尿病、胆石症、脂肪泻、腹痛和梗阻性黄疸，而乳头状肿瘤可能导致急性胰腺炎。肿瘤可能完全无症状地发展，或在影像学检查或外科手术过程中偶然发现。它可能是散发性的，或与遗传背景相关，特别是十二指肠定位时，如1型神经纤维瘤病（RAS/MAPK途径功能异常的基因）或帕卡克 - 庄综合征（编码缺氧诱导因子的基因）。如果可行，手术是主要的治疗方法，但预后取决于位置以及世界卫生组织2017年神经内分泌肿瘤分类所指示的分级。1型神经纤维瘤病以前称为冯·雷克林豪森病，是最常见的神经皮肤综合征，是一种常染色体显性疾病，包括：咖啡斑、屈侧皮肤褶皱雀斑、神经纤维瘤以及诸如视神经胶质瘤、胃肠道间质瘤（GIST）、虹膜错构瘤和脑肿瘤等肿瘤。十二指肠生长抑素瘤与该综合征相关，实际上涉及GIST型十二指肠肿瘤的情况比分泌生长抑素的肿瘤更为常见。还报告了其他神经内分泌肿瘤：直肠或空肠水平的胃肠道神经内分泌肿瘤（NENs）和嗜铬细胞瘤。总体而言，四分之一的患者患有不同类型的胃肠道肿瘤。生长抑素瘤若不位于胰腺而在十二指肠，很可能除其他肿瘤外还见于1型神经纤维瘤病患者。总体而言，这种临床表现具有挑战性的神经内分泌肿瘤预后较差，除非及时为患者提供充分的根治性手术。
