Clin Pediatr Hematol Oncol.  2009 Apr;16(1):38-42.

Family of Li-Fraumeni Syndrome with a Germline Mutation in the p53 Gene

Affiliations
  • 1Pediatric Oncology Clinic, Center for Specific Organs Cancer, National Cancer Center, Goyang, Korea. hjpark@ncc.re.kr
  • 2Department of Pediatrics, Hanyang University Medical Center, Seoul, Korea.
  • 3Neuro-Oncology Clinic, Korea.
  • 4Department of Laboratory Medicine, Center for Clinical Services, Center for Specific Organs Cancer, National Cancer Center, Goyang, Korea.
  • 5Department of Pathology, Center for Clinical Services, Center for Specific Organs Cancer, National Cancer Center, Goyang, Korea.

Abstract

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

Keyword

Li-Fraumeni syndrome; p53 gene; Familial cancer

MeSH Terms

Adrenocortical Carcinoma
Astrocytoma
Basal Ganglia
Biopsy
Brain
Brain Neoplasms
Breast Neoplasms
Fathers
Genes, p53
Germ-Line Mutation
Humans
Leukemia
Li-Fraumeni Syndrome
Mothers
Point Mutation
Rhabdomyosarcoma
Sarcoma
Siblings
Urinary Bladder
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