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. 2021 Jun;23(6):1179-1184.
doi: 10.1007/s12094-020-02508-2. Epub 2021 Jan 1.

Genetic predisposition to fetal and neonatal cancer

A Escudero  1   2 , B Ruz-Caracuel  1   2 , D Bueno  2   3 , M Martínez  4 , P Rubio  2   3 , R M Regojo  5 , E Antolín  6 , M Ybarra  4 , L Martínez  7 , J J Pozo-Kreilinger  5 , M D Elorza  4 , A Pellicer  4 , F Omeñaca  4 , A Pérez-Martínez  8   9   10
Affiliations

Genetic predisposition to fetal and neonatal cancer

A Escudero et al. Clin Transl Oncol. 2021 Jun.

Abstract

Background: Neonatal 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 patients PATIENTS 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.

Results: The genetic studies did not find any germline mutation except patients diagnosed with bilateral retinoblastoma who harbored RB1 germline mutations.

Conclusions: Our 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.

Keywords: Congenital cancer; Fetal and neonatal cancer; Genetic predisposition; Germline mutations; Rare tumors; Retinoblastoma.

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