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Genetic predisposition to fetal and neonatal cancer

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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.

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Acknowledgements

This study was supported by the CRIS Cancer Foundation (http://criscancer.org).

Author information

Authors and Affiliations

  1. Institute of Medical and Molecular Genetics (INGEMM), Hospital La Paz Institute for Health Research, Madrid, Spain

    A. Escudero, B. Ruz-Caracuel & A. Pérez-Martínez

  2. Translational Research in Pediatric Oncology Hematopoietic Transplantation & Cell Therapy, IdiPAZ, Madrid, Spain

    A. Escudero, B. Ruz-Caracuel, D. Bueno, P. Rubio & A. Pérez-Martínez

  3. Department of Pediatric Hematology and Oncology, Hospital Infantil Universitario La Paz, Madrid, Spain

    D. Bueno, P. Rubio & A. Pérez-Martínez

  4. Department of Neonatology, Hospital Infantil Universitario La Paz, Madrid, Spain

    M. Martínez, M. Ybarra, M. D. Elorza, A. Pellicer & F. Omeñaca

  5. Department of Pathology, Hospital Infantil Universitario La Paz, Madrid, Spain

    R. M. Regojo & J. J. Pozo-Kreilinger

  6. Department of Obstetrics and Gynecology, Hospital Maternal Universitario La Paz, Madrid, Spain

    E. Antolín

  7. Department of Pediatric Surgery, Hospital Infantil Universitario La Paz, Madrid, Spain

    L. Martínez

Authors
  1. A. Escudero
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  2. B. Ruz-Caracuel
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  3. D. Bueno
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  14. A. Pérez-Martínez
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Corresponding author

Correspondence to A. Pérez-Martínez.

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The authors have no conflicts of interest to disclose.

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Research was approved by the ethics committee of La Paz University Hospital.

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Informed consent was obtained from all individual participants included on the study.

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Escudero, A., Ruz-Caracuel, B., Bueno, D. et al. Genetic predisposition to fetal and neonatal cancer. Clin Transl Oncol 23, 1179–1184 (2021). https://doi.org/10.1007/s12094-020-02508-2

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  • DOI: https://doi.org/10.1007/s12094-020-02508-2

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