title: The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report.
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.
authors.affiliation: Department of Clinical Pathology and Cytology, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina. semir.v1@bih.net.ba
authors.forename: S
authors.initials: S
authors.lastname: Vranic
authors.forename: L
authors.initials: L
authors.lastname: Kapur
authors.forename: F
authors.initials: F
authors.lastname: Foco
authors.forename: N
authors.initials: N
authors.lastname: Bilalovic
authors.forename: P
authors.initials: P
authors.lastname: Hainaut
mesh_terms: D017522:Bosnia and Herzegovina / Q000453:epidemiology; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery; D002648:Child; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D005153:Facial Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D018226:Fibroadenoma / Q000235:genetics / Q000473:pathology / Q000601:surgery; D016158:Genes, p53; D018095:Germ-Line Mutation; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000473:pathology; D008048:Lip Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery; D009364:Neoplasm Recurrence, Local; D017233:Orbit Evisceration; D010375:Pedigree; D012208:Rhabdomyosarcoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery
chemical_list: D004273:DNA, Neoplasm