Gastric cancer in individuals with Li-Fraumeni syndrome.
Gastric cancer in individuals with Li-Fraumeni syndrome.
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DOI：
10.1097/gim.0b013e31821628b6
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发表时间：
2011-07
期刊：
影响因子：
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通讯作者：
Syngal S
中科院分区：
文献类型：
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作者：
Masciari S;Dewanwala A;Stoffel EM;Lauwers GY;Zheng H;Achatz MI;Riegert-Johnson D;Foretova L;Silva EM;Digianni L;Verselis SJ;Schneider K;Li FP;Fraumeni J;Garber JE;Syngal S
Li-Fraumeni 综合征 (LFS) 是一种罕见的遗传性癌症综合征，与 TP53 基因种系突变相关。虽然肉瘤、脑肿瘤、白血病、乳腺癌和肾上腺皮质癌通常被认为是 LFS 相关肿瘤，但胃肠道肿瘤的发生尚未得到充分评估。在此分析中，我们研究了 LFS 中胃癌 (GC) 的频率和特征。 Dana-Farber/国家癌症研究所 LFS 登记处对 62 个 TP53 突变阳性家族的家系和医疗记录进行了回顾性审查。我们通过病理报告或死亡证明确定了患有GC的受试者，并对可用标本进行了病理学审查。在 62 个 TP53 突变阳性家庭中，有 429 名癌症患者。来自 14 个家族 (22.6%) 的 21 名受试者 (4.9%) 的谱系被诊断为 GC。 GC 诊断时的平均年龄和中位年龄分别为 43 岁和 36 岁（范围 24-74 岁），明显低于基于 SEER 数据的一般人群诊断时的中位年龄（71 岁）。 5 个（8.1%）家庭报告有 2 例或以上 GC 病例，6 个（9.7%）家庭同时患有结直肠癌和胃癌病例。 TP53 突变的表型和类型/位置之间没有发现关联。对现有肿瘤的病理学检查揭示了肠道和弥漫性组织学。早发性 GC 似乎是 LFS 的一个组成部分，这表明需要对具有种系 TP53 突变的个体进行早期定期内镜筛查，特别是对于有 GC 家族史的个体。
Li-Fraumeni Syndrome (LFS) is a rare hereditary cancer syndrome associated with germline mutations in the TP53 gene. While sarcomas, brain tumors, leukemias, breast and adrenal cortical carcinomas are typically recognized as LFS- associated tumors, the occurrence of gastrointestinal neoplasms has not been fully evaluated. In this analysis, we investigated the frequency and characteristics of gastric cancer (GC) in LFS. Pedigrees and medical records of 62 TP53 mutation-positive families were retrospectively reviewed from the Dana-Farber/National Cancer Institute LFS registry. We identified subjects with GC documented either by pathology report or death certificate, and performed pathology review of the available specimens. Among 62 TP53 mutation-positive families, there were 429 cancer-affected individuals. GC was the diagnosis in the lineages of 21 (4.9%) subjects from 14 families (22.6%). The mean and median ages at GC diagnosis were 43 and 36 years, respectively (range 24-74 years), significantly younger compared to the median age at diagnosis in the general population based on SEER data (71 years). Five (8.1%) families reported 2 or more cases of GC and 6 (9.7%) families had cases of both colorectal and gastric cancers. No association was seen between phenotype and type/location of the TP53 mutations. Pathology review of the available tumors revealed both intestinal and diffuse histologies. Early-onset GC appears to be a component of LFS, suggesting the need for early and regular endoscopic screening in individuals with germline TP53 mutations, particularly among those with a family history of GC.