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Medline ® Abstract for Reference 45

of '胰腺癌的家系危险因素和高风险患者的筛查'

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Novel presentation of a familial pancreatic cancer syndrome.
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Maker AV, Warth JA, Zinner MJ
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J Gastrointest Surg. 2009 Jun;13(6):1151-4. Epub 2008 Dec 17.
 
INTRODUCTION: Earlier detection of pancreatic cancer may help identify patients for whom surgical intervention could provide cure or prolong life. In this article, we report the occurrence of breast cancer, melanoma, squamous cell carcinoma of the alveolar ridge, colon cancer, a desmoid tumor of the abdominal wall, and pancreatic adenocarcinoma in a 65-year-old woman. She was identified as having the familial atypical multiple mole melanoma-pancreatic cancer syndrome (FAMMM-PC) with a germline p16 mutation at amino acid position 15.
DISCUSSION: Patients with this syndrome traditionally present with multiple nevi and melanoma, and a subset also present with other cancers, including pancreatic cancer; however, no FAMMM-PC patient has yet been described with this constellation of cancers, including squamous cell carcinoma of the alveolar ridge and a desmoid tumor. Recognition of the tumors this population of patients is susceptible to developing and their genetic associations can help guide the surgeon in screening, surveillance, and eventually prevention of many of these cancers.
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Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. ajaymaker@gmail.com
PMID