Abstract
Li-Fraumeni syndrome (LFS) is a very rare autosomal dominant and highly penetrant cancer syndrome characterized by early-onset primary tumours, including soft tissue and bone sarcoma, breast cancer, leukemia, brain tumours and adrenocortical carcinoma. Here we report the first evidence-based case of LFS in Bosnia and Herzegovina and the whole Balkan region. A ten year-old girl developed multiple primary tumours (rhabdomyosarcoma) during a period of eight years, as well as fibroadenoma of the breast. Sequential analysis revealed a germ line mutation of TP53 in exon 8, a common mutation in patients with LFS, in both the patient and her mother.
MeSH terms
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Bosnia and Herzegovina / epidemiology
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Breast Neoplasms / genetics
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Breast Neoplasms / pathology
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Breast Neoplasms / surgery
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Child
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DNA, Neoplasm / genetics
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Exons / genetics
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Facial Neoplasms / diagnosis
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Facial Neoplasms / genetics
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Facial Neoplasms / pathology
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Facial Neoplasms / surgery
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Female
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Fibroadenoma / genetics
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Fibroadenoma / pathology
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Fibroadenoma / surgery
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Genes, p53
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Germ-Line Mutation
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Haplotypes / genetics
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Humans
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Introns / genetics
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Li-Fraumeni Syndrome / diagnosis
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Li-Fraumeni Syndrome / epidemiology*
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Li-Fraumeni Syndrome / pathology
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Lip Neoplasms / genetics
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Lip Neoplasms / pathology
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Lip Neoplasms / surgery
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Neoplasm Recurrence, Local
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Orbit Evisceration
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Pedigree
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Rhabdomyosarcoma / diagnosis
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Rhabdomyosarcoma / genetics
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Rhabdomyosarcoma / pathology
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Rhabdomyosarcoma / surgery