[Li-Fraumeni familial cancer syndrome: case report and review of the literature].
BACKGROUND
Multiple familial cancer is a rare entity as is also Li-Fraumeni Syndrome (LFS), which involves a mutation in the germ cell line of Tp53 suppresor gene that is expressed in chromosome 17p13.1 and occurs as an autosomal dominant condition.


OBJECTIVE
Presentation of one case of LFS.


METHODS
Family history: maternal grandfather had melanoma and maternal aunt had osteoblastic osteosarcoma of the left distal femur. Eight-and-a-half year-old child with a history of a CNS tumor (choroid plexus carcinoma) and two years later, a melanoma (Spitz nevus).


METHODS
impaired motor function of the left half of the body and pain upon ipsilateral gait. The physical exam showed swelling of the left iliac crest. The X-rays showed osteoblastic osteosarcoma and the fine needle aspiration biopsy (FNAB) was positive. The diagnosis was made according to the clinical criteria for LFS.


CONCLUSIONS
We report a case of LFS diagnosed based on clinical criteria. We suggest that the questioning of patients with cancer be aimed at finding out the family history of neoplasias. The case presented herein shows an evident association between both choroid plexus carcinoma and osteoblastic osteosarcoma and the patient's family history. We think that any physician treating children with cancer should consider these multiple familial cancer syndromes.
Tena Sanabria
Mario Edgar
ME
Hospital de Pediatría, CMN, SXXI, IMSS. metsxxi@hotmail.com
Herrera Sánchez
Daniel
D
Hernández López
Javier
J
Huicochea Montiel
Juan Carlos
JC
Rodríguez
Alicia
A
D002648:Child; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree