J.Jpn. Surg. Soc.
ISSN 1880-1129

[Abstract] [Full Text HTML] [Full Text PDF] （in Japanese / 474KB） [Members Only]

J.Jpn. Surg. Soc.. 119(2): 186-192, 2018

Feature topic

GENETIC TESTING IN CHILDHOOD:FOCUSING ON LI-FRAUMENI SYNDROME

1) Medical Genetics, Major of Science, Kindai University Graduate School of Science and Engineering, Higashiosaka, Japan
2) Genetic Medical Service, Kindai University Hospital, Faculty of Medicine, Kindai University, Osakasayama, Japan

Kazuo Tamura1), Shigeko Kido2)

Among tumors that develop in childhood, some are classified as familial tumors. Li-Fraumeni syndrome is characterized by an autosomal-dominant mode of inheritance caused by a germline mutation of the TP53 gene. This disorder is present not only in pediatric adrenal cortical cancer and choroid plexus papillary tumor patients but also in those with more common malignant tumors, for example, breast cancer patients, gastrointestinal cancer patients, etc. Appropriate medical intervention through early diagnosis and treatment is necessary at the earliest stage possible. Genetic testing is the basis for accurate clinicopathological assessment and surveillance. Many types of lifelong surveillance programs that can respond to a variety of tumors have been studied. Li-Fraumeni syndrome is a typical familial tumor entity, but because of its relative rarity is likely to be overlooked in such programs.

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