Maker Ajay V, Warth James A, Zinner Michael J
Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
J Gastrointest Surg. 2009 Jun;13(6):1151-4. doi: 10.1007/s11605-008-0780-8. Epub 2008 Dec 17.
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.
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.
早期发现胰腺癌可能有助于确定那些可通过手术干预治愈或延长生命的患者。在本文中，我们报告了一名65岁女性患有乳腺癌、黑色素瘤、牙槽嵴鳞状细胞癌、结肠癌、腹壁硬纤维瘤和胰腺腺癌。她被鉴定为患有家族性非典型多发性痣黑色素瘤-胰腺癌综合征（FAMMM-PC），其种系p16在第15位氨基酸处发生突变。
患有该综合征的患者传统上表现为多发性痣和黑色素瘤，其中一部分患者还患有其他癌症，包括胰腺癌；然而，尚未有FAMMM-PC患者被描述患有包括牙槽嵴鳞状细胞癌和硬纤维瘤在内的这一系列癌症。认识到这类患者易患的肿瘤及其遗传关联有助于指导外科医生进行筛查、监测，并最终预防许多此类癌症。
