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Correlation between oncological family history and clinical outcome in a large monocentric cohort of pediatric patients with rhabdomyosarcoma

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Abstract

Background

Rhabdomyosarcoma (RMS), an aggressive soft tissue sarcoma of the skeletal muscle generally affecting children and adolescents, shows extensive heterogeneity in histology, site and age of onset, clinical course, and prognosis. Tumorigenesis of RMS is multifactorial and genetic predisposition together with the family history of cancer may provide critical information to enhance the current knowledge and foster genetic counseling and testing.

Methods

In our study, we evaluated the possible correlation of oncological family history with clinical outcomes in a cohort of RMS 512 patients and treated at the Pediatric Oncology Unit of our Institute. Family history was retrospectively collected from the specific ad hoc form available in medical records and filled in through an interview with the patients’ parents at the time of RMS diagnosis.

Results

While our series did not show a specific association between oncological family history and clinical variables, we observed an association with survival probabilities: among patients with a history of cancer-affected first-degree relatives at the time of the diagnosis, all children with alveolar RMS (ARMS) died of disease.

Conclusion

Our study not only reports an interesting and not previously described association between a poor clinical outcome and ARMS in patients with young cancer-affected relatives, but also stimulates the discussion on oncological family history in RMS, to improve the clinical management of these young patients and their families.

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Acknowledgements

Special thanks are dedicated to Associazione Bianca Garavaglia for their dedication and continuous support to pediatric research.

Funding

No funding was received.

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Author notes

  1. Patrizia Gasparini and Andrea Ferrari share co-last authorship.

Authors and Affiliations

  1. Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy

    Valentina Sottili, Roberto Luksch, Monica Terenziani, Michela Casanova, Filippo Spreafico, Cristina Meazza, Marta Podda, Veronica Biassoni, Elisabetta Schiavello, Stefano Chiaravalli, Maura Massimino & Andrea Ferrari

  2. Unit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy

    Stefano Signoroni

  3. Clinical Epidemiology and Trial Organization Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy

    Francesco Barretta

  4. Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy

    Jacopo Azzollini & Siranoush Manoukian

  5. Tumor Genomics Unit, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133, Milan, Italy

    Patrizia Gasparini

Authors
  1. Valentina Sottili
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Corresponding author

Correspondence to Patrizia Gasparini.

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Conflict of interest

All authors declare that they have no conflict of interest.

Ethical approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 [5]. Informed consent was obtained from all patients for being included in the study. Ethical approval was received by the Research Ethical Committee at the Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy (code 150053 of the Italian National Observatory on Clinical Trials).

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All the patients (or parents/guardians in case of minors) signed a written.

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Sottili, V., Signoroni, S., Barretta, F. et al. Correlation between oncological family history and clinical outcome in a large monocentric cohort of pediatric patients with rhabdomyosarcoma. Int J Clin Oncol 26, 1561–1568 (2021). https://doi.org/10.1007/s10147-021-01934-8

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  • DOI: https://doi.org/10.1007/s10147-021-01934-8

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