Genetic predisposition to fetal and neonatal cancer

• A. Escudero ^[1] ; B. Ruz Caracuel ^[1] ; D. Bueno ^[2] ; M. Martínez ^[3] ; P. Rubio ^[2] ; R. M. Regojo ^[4] ; E. Antolín ^[5] ; M. Ybarra ^[3] ; L. Martínez ^[6] ; J. J. Pozo Kreilinger ^[4] ; M. D. Elorza ^[3] ; A. Pellicer ^[3] ; F. Omeñaca ^[3] ; A. Pérez Martínez ^[1]
  1. [1] Institute of Medical and Molecular Genetics (INGEMM), Hospital La Paz Institute for Health Research, Madrid, Spain
  2. [2] Department of Pediatric Hematology and Oncology, Hospital Infantil Universitario La Paz, Madrid, Spain
  3. [3] Department of Neonatology, Hospital Infantil Universitario La Paz, Madrid, Spain
  4. [4] Department of Pathology, Hospital Infantil Universitario La Paz, Madrid, Spain
  5. [5] Department of Obstetrics and Gynecology, Hospital Maternal Universitario La Paz, Madrid, Spain
  6. [6] Department of Pediatric Surgery, Hospital Infantil Universitario La Paz, Madrid, Spain

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• Localización: Clinical & translational oncology, ISSN 1699-048X, Vol. 23, Nº. 6, 2021, págs. 1179-1184
• Idioma: inglés
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• Resumen

  • 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