1型神经纤维瘤病相关性肿瘤11例报告

Eleven cases report of neurofibromatosis type 1 associated tumors

目的探讨1型神经纤维瘤病相关性肿瘤的临床特征、治疗及预后,为该病的防治提供经验。方法收集本院2009年3月至2012年2月间收治的11例1型神经纤维瘤病相关性肿瘤病例相关资料。分析其临床表现、组织病理资料、治疗及预后特点。结果本组11例患者,除1例肾上腺肿瘤较小未手术未明确病理类型外,其他10例行手术治疗的患者中,有5种病理类型的肿瘤发生。其中胃肠道间质瘤4例,恶性周围神经鞘瘤3例,神经纤维瘤1例,成熟型畸胎瘤1例和乳腺浸润性导管腺癌1例。2例死于肿瘤复发转移,1例肿瘤复发带瘤生存,7例术后无瘤生存。结论 1型神经纤维瘤病相关性肿瘤是一类特殊的肿瘤,具有临床表现复杂、早期诊断困难、病理类型多、预后较相应散发性肿瘤差的特点。开展针对1型神经纤维瘤病患者群的定期体检,提高该类肿瘤的早期诊断率,可能会改善预后。

Objective To explore the characteristic, treatment and prognosis of neurofibromatosis type 1 （NF1） associated tumors in order to provide initial guidance for diagnosis and treatment. Methods Data of 11 patients diagnosised as NF1 associated tumors from March 2009 to February 2012 were collected. Their clinical manifestations, histopathologic materials, treatment and prognosis were analyzed. Results Ten of the 11 patients underwent operations, except one whose tumor in the left adrenal gland was too small to perform an operation. Five kinds of pathological types were confirmed in ten operated patients, including gastrointestinal stromal tumor （4 cases）, malignant peripheral nerve sheath tumor（3 cases）, neurofibroma（1 case）, breast infiltrating ductal adenocarcinoma （1 case） and mature teratoma （1 case）. Of the 10 patients,one survived with tumor recurrence,two patients died of metastasis, and other seven patients were disease-flee survival up to now. Conclusions The tumors associated with NF1 are special clusters which have special features, such as complicated clinical manifestations, difficultly in early diagnosis, diverse types of pathology and poor prognosis comparing with sporadic analogues. Regular physical examinations for NF1 patients may help to diagnose NF1 associated tumors earlier, so as to improve their prognosis.