Lisewski Dean, Ryan Simon, Lim Ee Mun, Frost Felicity, Nguyen Hieu
Department of Surgery, Sir Charles Gairdner Hospital, Nedlands, Western Australia.
Int Semin Surg Oncol. 2006 Apr 26;3:11. doi: 10.1186/1477-7800-3-11.
Although pheochromocytoma occurs in 1% of patients with von Recklinghausen's disease, composite tumors in this syndrome are much rarer, with isolated case reports in the literature. Most gastrointestinal stromal tumors (GISTs) are solitary and sporadic. Multiple GISTs however, are associated with clinical syndromes particularly von Recklinghausen's disease. We believe this is the first report of composite adrenal pheochromocytoma and multiple GISTs occurring in an 82 year old woman with neurofibromatosis type 1 (NF1), manifested by clitoral and subcutaneous neurofibromas, epilepsy and Lisch nodules. The extreme clitoromegaly raised concerns of pseudohermaphrodism at presentation.
虽然嗜铬细胞瘤在冯·雷克林霍增氏病患者中发生率为1%，但该综合征中的复合肿瘤则更为罕见，文献中仅有个别病例报告。大多数胃肠道间质瘤（GIST）是孤立性和散发性的。然而，多发性GIST与特定临床综合征相关，尤其是冯·雷克林霍增氏病。我们认为，这是首例关于一名82岁1型神经纤维瘤病（NF1）女性患者同时发生肾上腺嗜铬细胞瘤和多发性GIST的报告，该患者表现为阴蒂及皮下神经纤维瘤、癫痫和Lisch结节。就诊时，阴蒂极度增大引发了对假两性畸形的担忧。
