Goals Li Fraumeni syndrome is an autosomal dominant cancer syndrome due

Goals Li Fraumeni syndrome is an autosomal dominant cancer syndrome due to a germline mutation in the p53 tumor suppressor gene. cancer patient tolerate and derive benefit from it still? Methods We explain a representative case of the 54 year older feminine with Li Fraumeni symptoms with an enlarging adrenocortical hepatic metastasis a fresh primary ampullary tumor and a thorough medical history. Outcomes We performed a simultaneous do it again and pancreaticoduodenectomy partial hepatectomy. Conclusions We suggest that medical procedures is under employed in metastatic solid body organ familial cancers generally and argue an intense medical approach is highly recommended inside a multidisciplinary style for individuals with Li Fraumeni symptoms and repeated tumors. However due Rabbit Polyclonal to CHST10. to the rarity of the familial tumor there’s a paucity of evidence to support this approach therefore a review of the literature is presented. Keywords: Li Fraumeni syndrome metastasectomy simultaneous pancreaticoduodenectomy hepatectomy Introduction Over a decade ago Dr. Blake Cady stated that in surgical oncology “Biology is King; selection of cases is Queen and the technical details Etizolam of surgical procedures are the Princes and Princesses of the realm who frequently try to overthrow the powerful forces of the King or Queen usually to no long-term avail although with some temporary apparent victories” [1]. Etizolam Although this statement was proven correct on many occasions in the last century recent technical advances new surgical techniques revised staging schemes improved early diagnosis and more efficacious chemotherapy have resulted in re-examination of this historically important dictum. We report a case of a patient with Li Fraumeni syndrome (LFS) with an adrenocortical hepatic metastasis and a synchronous new primary ampullary cancer. After extensive review of the literature we propose an aggressive surgical approach for patients with multiple cancers in the setting of LFS. Relevant literature and treatment are discussed below. Materials and Methods During routine screening endoscopy an asymptomatic 54 year-old female with known LFS was found to have a new ampullary mass in 2010 2010. Biopsies revealed adenocarcinoma moderately differentiated and invasive. Immunohistochemistries were performed and tumor cells positive for CKC CDX-2 CK20 and negative for CK7 ER PR TTF-1 BRST-2. These findings supported a gastrointestinal primary. Staging imaging computed tomography (CT) imaging demonstrated a 6cm hepatic mass and a 1.6 cm ampullary mass (Figure 1A). Corresponding positron emission tomography (PET) images showed the hepatic mass to have a standardized uptake value (SUV) of 9.7 (Figure 1B). There were no other areas of significant PET avidity. The synchronous hepatic mass was biopsy proven to be metastatic adrenocortical carcinoma (ACC). FIGURE 1 A CT imaging displaying a solitary tortuous portal vein (black arrow) in relation to the metastatic adrenocortical hepatic tumor (white arrow). B PET imaging documenting a SUV of 9.7 of the metastatic adrenocortical hepatic tumor. The patient’s oncologic and surgical histories date back to 1987 (24 years prior to the current presentation Table 1) when she was diagnosed with intra-ductal carcinoma of the breast. Subsequently she developed recurrent breast cancer along with multiple other primary cancers; adrenocortical cancer (ACC 1989 right chest wall malignant fibrous histiocytoma (1995) multiple basal cell carcinomas and ampullary cancer. In addition to these 5 different major cancers our individual got metastatic ACC towards the lung and liver organ (1992 1994 1997 2000 In 2008 she was identified as having LFS by documenting a germ range mutation in the p53 tumor suppressor gene. Relevant medical history was: open up remaining adrenalectomy nephrectomy and splenectomy for ACC and prophylactic total stomach hysterectomy and bilateral salpingoophorectomy. Relevant hepatic interventions included open up nonanatomic wedge resection of sections V and IVB with cholecystectomy margin position adverse but <2mm. This is accompanied by a recurrence 3 years later on and a protracted correct hepatectomy (metastatic ACC). The individual recurred in her hepatic remnant after 3 Etizolam years and underwent percutaneous RFA of the solitary hepatic lesion (metastatic Etizolam ACC). Twelve months later on due to raising size of the hepatic lesion she underwent open up RFA of the solitary lesion (metastatic ACC). Desk 1 Complete oncologic and medical background for our.