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KMID : 0387820090160010038
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Clinical Pediatric Hematology-Oncology
2009 Volume.16 No. 1 p.38 ~ p.42
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Family of Li-Fraumeni Syndrome with a Germline Mutation in the p53 Gene
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Shin Hyun-Jung
Kwon Young-Joo
Lim Yeon-Jung
Park Byung-Kyu
Ghim Thad
Shin Sang-Hoon
Kong Sun-Young
Hong Eun-Kyung
Park Hyeon-Jin
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Abstract
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Li-Fraumeni syndrome is an autosomal dominant familial cancer syndrome characterized by a diverse set of tumors, including sarcoma, breast cancer, brain tumor, adrenocortical carcinoma, and acute leukemia, affecting family members. We report a case of Li-Fraumeni syndrome which was confirmed by mutational analysis of the p53 gene. A three-year-old boy, who had been on remission for six months from rhabdomyosarcoma of the bladder, visited our hospital due to right side weakness. He was diagnosed as anaplastic astrocytoma in the left basal ganglia via brain MRI and biopsy. We checked for p53 gene mutation of his family members due to his familial cancer history of maternal family. We found a point mutation on p53 gene in the patient, his two sisters, and mother, but not in his father.
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KEYWORD
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Li-Fraumeni syndrome, p53 gene, Familial cancer
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