Surgery for Li Fraumeni Syndrome

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 under utilized in metastatic solid organ familial cancers in general, and argue that an aggressive surgical approach should be considered in a multidisciplinary fashion 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.

Optimal management of prostate cancer with lethal biology - state-of-the-art local therapy

“…p53 is a tumor suppressor and mutations can lead to unregulated cell growth and tumor formation. 52 BRCA1/2 genes are involved with genome stability and assist in DNA repair. 53 Mutations in both have been associated with prostate cancer in men.…”

Reconstruction after Resection of Undifferentiated Pleomorphic Sarcoma and Invasive Ductal Carcinoma in a Patient with Li-Fraumeni Syndrome

“…1 Due to risk of secondary radiation-induced malignancies, LFS is a relative contraindication to radiation therapy. 3 Many cancers in LFS patients require surgical treatment, often involving resection with wide margins. 3 This often leads to need for multiple reconstructive procedures for both primary and recurrent cancers.…”

“…3 Many cancers in LFS patients require surgical treatment, often involving resection with wide margins. 3 This often leads to need for multiple reconstructive procedures for both primary and recurrent cancers. 2,3 In this case, we present a 34-year-old woman with newly diagnosed LFS who presented with concurrent invasive ductal breast carcinoma and undifferentiated pleomorphic sarcoma.…”

“…3 This often leads to need for multiple reconstructive procedures for both primary and recurrent cancers. 2,3 In this case, we present a 34-year-old woman with newly diagnosed LFS who presented with concurrent invasive ductal breast carcinoma and undifferentiated pleomorphic sarcoma. These primary cancers were both treated surgically with bilateral mastectomy and resection with wide margins, respectively.…”

“… 3 Many cancers in LFS patients require surgical treatment, often involving resection with wide margins. 3 This often leads to need for multiple reconstructive procedures for both primary and recurrent cancers. 2 , 3 …”