Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 4-5952, Bethesda, MD, 20892, USA.
Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
BMC Cancer. 2020 Mar 30;20(1):256. doi: 10.1186/s12885-020-06723-6.
Li-Fraumeni syndrome is a cancer predisposition syndrome caused by germline TP53 tumor suppressor gene mutations, with no previous association with pancreatic neuroendocrine tumors (PNETs). Here we present the first case of PNET associated with Li-Fraumeni syndrome.
This is a 43-year-old female who underwent laparoscopic distal pancreatectomy at age 39 for a well-differentiated grade 2 cystic PNET. When the patient was 41 years old, her seven-year-old daughter was found to have an astrocytoma and a germline TP53 mutation. While undergoing surveillance with Gallium-DOTATATE positron emission tomography/computed tomography for her PNET, the patient was found to have a large choroid plexus papilloma in her right temporal lobe. She underwent genetic counseling and testing that identified a germline pathogenic variant in TP53, leading to the diagnosis of Li-Fraumeni syndrome. Her PNET had a hemizygous pathogenic TP53 mutation with loss of the wild-type alternate allele, consistent with loss of heterozygosity and the two-hit hypothesis. She was enrolled in a Li-Fraumeni syndrome protocol and continues surveillance screening with our service.
This is the first PNET reported in association with Li-Fraumeni syndrome. Pancreatic cancer risk is elevated in this syndrome, and our case highlights the need for vigilance in screening for pancreatic neoplasms in these patients.
李-佛美尼综合征是一种由种系 TP53 肿瘤抑制基因突变引起的癌症易感性综合征，以前与胰腺神经内分泌肿瘤（PNET）无关。在此，我们报告首例与李-佛美尼综合征相关的 PNET。
这是一名 43 岁女性，39 岁时因分化良好的 2 级囊性 PNET 行腹腔镜远端胰腺切除术。患者 41 岁时，其 7 岁的女儿被诊断为星形细胞瘤和种系 TP53 突变。在因 PNET 接受镓-DOTATATE 正电子发射断层扫描/计算机断层扫描监测时，发现患者右侧颞叶有一个大脉络丛乳头状瘤。她接受了遗传咨询和检测，发现 TP53 存在种系致病性变异，导致李-佛美尼综合征的诊断。她的 PNET 存在杂合致病性 TP53 突变，失去野生型等位基因，符合杂合性丢失和两次打击假说。她被纳入李-佛美尼综合征方案，并继续在我们的服务机构接受监测筛查。
这是首例与李-佛美尼综合征相关的 PNET。该综合征中胰腺癌风险增加，我们的病例强调了在这些患者中筛查胰腺肿瘤的必要性。
