1. The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report.
- Author
-
Vranic S, Kapur L, Foco F, Bilalovic N, and Hainaut P
- Subjects
- Bosnia and Herzegovina epidemiology, Breast Neoplasms genetics, Breast Neoplasms pathology, Breast Neoplasms surgery, Child, DNA, Neoplasm genetics, Exons genetics, Facial Neoplasms diagnosis, Facial Neoplasms genetics, Facial Neoplasms pathology, Facial Neoplasms surgery, Female, Fibroadenoma genetics, Fibroadenoma pathology, Fibroadenoma surgery, Genes, p53, Germ-Line Mutation, Haplotypes genetics, Humans, Introns genetics, Li-Fraumeni Syndrome diagnosis, Li-Fraumeni Syndrome pathology, Lip Neoplasms genetics, Lip Neoplasms pathology, Lip Neoplasms surgery, Neoplasm Recurrence, Local, Orbit Evisceration, Pedigree, Rhabdomyosarcoma diagnosis, Rhabdomyosarcoma genetics, Rhabdomyosarcoma pathology, Rhabdomyosarcoma surgery, Li-Fraumeni Syndrome epidemiology
- 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.
- Published
- 2006