Griffiths D F, Williams G T, Williams E D
Department of Pathology, University of Wales College of Medicine, Heath Park, Cardiff.
Q J Med. 1987 Sep;64(245):769-82.
To clarify neuroendocrine syndromes we have reviewed the association of neurofibromatosis with carcinoid tumours and of neurofibromatosis, phaeochromocytoma or von Hippel-Lindau complex with either carcinoid or islet cell tumours. In nine cases of neurofibromatosis with a carcinoid tumour studied all carcinoid tumours were in the duodenum, were distinctive histologically and had widespread somatostatin immunoreactivity. The duodenum was the primary site in 18 of 20 further published cases of carcinoid tumour and neurofibromatosis. Phaeochromocytoma was also present in six of these 27 cases with neurofibromatosis and duodenal carcinoid tumour. Six patients have been reported with Von Hippel-Lindau complex, phaeochromocytoma and islet cell tumour. A further 11 patients showed phaeochromocytoma and islet cell tumour. No cases of Von Hippel-Lindau complex had a carcinoid tumour, and no cases of neurofibromatosis had an islet cell tumour. We conclude that the association of neurofibromatosis, duodenal carcinoid tumour and phaeochromocytoma forms a distinctive neuroendocrine syndrome, sharply separated from the association of Von Hippel-Lindau complex with islet cell tumour and phaeochromocytoma. This separation is important in pathogenesis, diagnosis and clinical management.
为了阐明神经内分泌综合征，我们回顾了神经纤维瘤病与类癌肿瘤的关联，以及神经纤维瘤病、嗜铬细胞瘤或冯·希佩尔-林道综合征与类癌或胰岛细胞瘤的关联。在研究的9例神经纤维瘤病合并类癌肿瘤的病例中，所有类癌肿瘤均位于十二指肠，组织学上具有独特性，且具有广泛的生长抑素免疫反应性。在另外20例已发表的类癌肿瘤和神经纤维瘤病病例中，十二指肠是18例的原发部位。在这27例神经纤维瘤病合并十二指肠类癌肿瘤的病例中，有6例还存在嗜铬细胞瘤。有6例患者被报道患有冯·希佩尔-林道综合征、嗜铬细胞瘤和胰岛细胞瘤。另有11例患者表现为嗜铬细胞瘤和胰岛细胞瘤。没有冯·希佩尔-林道综合征合并类癌肿瘤的病例，也没有神经纤维瘤病合并胰岛细胞瘤的病例。我们得出结论，神经纤维瘤病、十二指肠类癌肿瘤和嗜铬细胞瘤的关联形成了一种独特的神经内分泌综合征，与冯·希佩尔-林道综合征与胰岛细胞瘤和嗜铬细胞瘤的关联明显不同。这种区分在发病机制、诊断和临床管理中很重要。
