Gastric cancer in individuals with Li-Fraumeni syndrome
| Autor: | Sigitas Verselis, Sapna Syngal, Akriti Dewanwala, Edaise M. Silva, Lisa DiGianni, Lenka Foretova, Serena Masciari, Hui Zheng, Judy Garber, Elena M. Stoffel, Frederick P. Li, Maria Isabel Achatz, Gregory Y. Lauwers, Joseph F. Fraumeni, Katherine A. Schneider, Douglas L. Riegert-Johnson |
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| Rok vydání: | 2011 |
| Předmět: |
Oncology
Adult Male medicine.medical_specialty Pathology Article Li-Fraumeni Syndrome Young Adult Germline mutation Stomach Neoplasms Internal medicine medicine Surveillance Epidemiology and End Results Humans Genetic Predisposition to Disease Family history Young adult Genetics (clinical) Aged Retrospective Studies Family Health business.industry Cancer Retrospective cohort study Middle Aged medicine.disease Pedigree Li–Fraumeni syndrome Mutation Female Death certificate Tumor Suppressor Protein p53 business |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics. 13(7) |
| ISSN: | 1530-0366 |
| Popis: | Purpose: Li-Fraumeni syndrome is a rare hereditary cancer syndrome associated with germline mutations in the TP53 gene. Although sarcomas, brain tumors, leukemias, breast and adrenal cortical carcinomas are typically recognized as Li-Fraumeni syndrome-associated tumors, the occurrence of gastrointestinal neoplasms has not been fully evaluated. In this analysis, we investigated the frequency and characteristics of gastric cancer in Li-Fraumeni syndrome. Methods: Pedigrees and medical records of 62 TP53 mutation-positive families were retrospectively reviewed from the Dana-Farber/National Cancer Institute Li-Fraumeni syndrome registry. We identified subjects with gastric cancer documented either by pathology report or death certificate and performed pathology review of the available specimens. Results: Among 62 TP53 mutation-positive families, there were 429 cancer-affected individuals. Gastric cancer was the diagnosis in the lineages of 21 (4.9%) subjects from 14 families (22.6%). The mean and median ages at gastric cancer diagnosis were 43 and 36 years, respectively (range: 24–74 years), significantly younger compared with the median age at diagnosis in the general population based on Surveillance Epidemiology and End Results data (71 years). Five (8.1%) families reported two or more cases of gastric cancer, and six (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. Conclusions: Early-onset gastric cancer seems to be a component of Li-Fraumeni syndrome, suggesting the need for early and regular endoscopic screening in individuals with germline TP53 mutations, particularly among those with a family history of gastric cancer. |
| Databáze: | OpenAIRE |
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