Surgery for Li Fraumeni syndrome: pushing the limits of surgical oncology.
Surgery for Li Fraumeni syndrome: pushing the limits of surgical oncology.
复制标题
李弗劳梅尼综合征的手术：突破肿瘤外科的极限。
DOI：
10.1097/coc.0b013e3182880bc5
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Avital,Itzhak
中科院分区：
文献类型：
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作者：
Langan,RussellC;Lagisetty,KiranH;Atay,Scott;Pandalai,Prakash;Stojadinovic,Alexander;Rudloff,Udo;Avital,Itzhak
目的：Li Fraumeni综合征是一种常染色体显性遗传性癌症综合征，由P53抑癌基因的胚系突变引起。它会导致儿童和成人的多原发肿瘤。当面对患有多原发癌和/或复发的Li Fraumeni患者时，一个常见的问题是什么是适当的治疗？数据显示，在Li Fraumeni人群中，电离辐射暴露增加了第二种恶性肿瘤的发生率。方法：我们描述了一位54岁的女性Li Fraumeni综合征患者的典型病例，她伴有增大的肾上腺皮质肝转移，一例新的原发壶腹癌，并有广泛的手术史。结果：我们同时行了胰腺十二指肠切除并重复肝部分切除。结论：我们认为在转移性实体器官家族性癌症中，手术是未被充分利用的，并认为对于Li Fraumeni综合征和复发肿瘤的患者应综合考虑积极的手术入路。然而，由于这种家族性癌症的罕见，支持这一方法的证据很少，因此对文献进行了回顾。
Objectives:Li Fraumeni syndrome is an autosomal dominant cancer syndrome due to a germline mutation in the p53 tumor suppressor gene. It results in multiple primary neoplasms in children and adults. A common question when faced with a Li Fraumeni patient who develops multiple primary cancers and/or recurrences is what is the proper treatment? Data suggests that ionizing radiation exposure increases the incidence of second malignancies in the Li Fraumeni population. Therefore, how much surgery can a cancer patient tolerate and still derive benefit from it?Methods:We describe a representative case of a 54-year-old female with Li Fraumeni syndrome with an enlarging adrenocortical hepatic metastasis, a new primary ampullary cancer, and an extensive surgical history.Results:We performed a simultaneous pancreaticoduodenectomy and repeat partial hepatectomy.Conclusions:We propose that surgery is underutilized in metastatic solid organ familial cancers in general, and argue that an aggressive surgical approach should be considered in a multidisciplinary manner for patients with Li Fraumeni syndrome and recurrent tumors. However, because of the rarity of this familial cancer there is a paucity of evidence to support this approach, therefore a review of the literature is presented.