Russell C Langan1, Kiran H Lagisetty, Scott Atay, Prakash Pandalai, Alexander Stojadinovic, Udo Rudloff, Itzhak Avital. 1. †Department of Surgery, Georgetown University Hospital, Washington, DC ‡Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA *Surgery Branch, National Cancer Institute, National Institutes of Health §Department of Surgery, Division of Surgical Oncology, Walter Reed National Military, Medical Center ∥Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD ¶Bon Secours Cancer Institute, Richmond, VA.
Abstract
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.
OBJECTIVES:Li Fraumeni syndrome is an autosomal dominant cancer syndrome due to a germline mutation in the p53tumor suppressor gene. It results in multiple primary neoplasms in children and adults. A common question when faced with a Li Fraumenipatient 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 cancerpatient 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.
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