Resumen de Genetic predisposition to fetal and neonatal cancer
A. Escudero, B. Ruiz, D. Bueno, M. Martínez, P. Rubio, R.Mª Regojo Zapata, E. Antolín, M. Ybarra, L. Martínez Santamaría, José Juan Pozo Kreilinger, D. Elorza Fernández, A. Pellicer, Félix Omeñaca Terés, Antonio Pérez Martínez
BackgroundNeonatal tumors represent an extremely rare and heterogeneous disease with an unknown etiology. Due to its early onset, it has been proposed that genetic factors could play a critical role; however, germline genetic analysis is not usually performed in neonatal cancer patientsPatients and methods To improve the identification of cancer genetic predisposition syndromes, we retrospectively review clinical characteristics in 45 patients with confirmed tumor diagnosis before 28 days of age, and we carried out germline genetic analysis in 20 patients using next-generation sequencing and directed sequencing.ResultsThe genetic studies did not find any germline mutation except patients diagnosed with bilateral retinoblastoma who harbored RB1 germline mutations.ConclusionsOur results suggest that genetic factors have almost no higher impact in most neonatal tumors. However, since the heterogeneity of the tumors and the small sample size analyzed, we recommend complementary and centralized germline studies to discard the early onset as an additional criterion to take into account to improve the identification of cancer genetic predisposition syndromes in neonates
