Autori: M. Bataneant, S. Arghirescu, C. Petrescu, E. Boeriu, M. Puiu, I. Ferencs, M.Serban

Editorial: nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, p.157, 2007.

Rezumat:

Background. Despite the fact that neoplasia is not a deterministic genetic disease, the majority of childhood malignancies result from errors that take place during early stages of cell differentiation, tissue maturation and organ development.
Objectives. We aimed at evaluating the frequency of association between neoplasia and some genetic disorders, recognized for their increased susceptibility role and predisposition for neoplasia in order to provide a basis for risk assessment and counseling of families prone to develop neoplasia.
Patients and methods. The study has been undertaken on all patients with neoplasia admitted in the IIIrd Pediatric Clinic, Timisoara between 1981-january 2007.
Results. We analyzed 750 patients aged 1 month – 20 years. 730 patients (97,33%) had cancer and 20 patients (2,67%) had benign tumors. We diagnosed 27 patients (3,6%) with neoplasia and concomitent genetic disorder: Down (5), Peutz-Jegers (1), von Hippel-Lindau (1), Beckwith-Wiedemann (2), Rubinstein-Taybi (1), Nijmegen breakage syndrome (2), Kostmann agranulocytosis (1), Fanconi anemia (1), Ataxia-telangiectasia (1), Bourneville disease (3), Neurofibromatosis type I (2), Proteus syndrome (1), Poland syndrome (1), minor anomalies (5 cases). Types of neoplasia developed by the patients with genetic disorders were dominated by solid tumors in 15 cases (55,5%) and non-lymphoblastic leukemia in 12 cases (44,5%).
Conclusions. The proportion of genetic disorders associated neoplasia is significantly higher than in normal population. Therefore the identification of risk factors in a family should be the first step for individualized counseling and monitoring, able to assure the detection in early stage of the disease.

Cuvinte cheie: boli genetice, neoplasia, copil // genetic disorder*neoplasia*child

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