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Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition. | LitMetric

AI Article Synopsis

  • The study highlights the importance of diagnosing cancer predisposition in pediatric cancer patients to guide treatment and manage risks for family members.
  • Researchers analyzed records from 1,023 patients who underwent somatic tumor testing, finding that 13.8% had concerning variants indicating cancer predisposition.
  • Over one-third of these variants were confirmed through further testing, showing that somatic tumor testing can reveal potential cancer syndromes that might not be evident from clinical history alone.

Article Abstract

Purpose: The diagnosis of cancer predisposition in pediatric patients with cancer is vital for treatment decisions, surveillance, and management of at-risk family members. Somatic tumor testing can identify potential underlying constitutional variants that confer increased cancer risk. Here, we report the characteristics of constitutional variants identified through tumor testing.

Materials And Methods: Data were abstracted from medical record review of 1,023 patients who received inhouse somatic tumor testing over a 28-month period. Patients were identified for testing using referral criteria developed as a collaboration between genomic diagnostics, pathology, and oncology. Characteristics of patients who underwent constitutional testing, including family history and variant loss of heterozygosity, were tracked.

Results: From 1,023 patients who underwent somatic tumor sequencing in a 28-month period, 210 variants were identified in 141 patients (13.8%) that were concerning for cancer predisposition syndromes requiring intervention. A total of 73 variants in 41 patients have undergone clinical confirmatory testing thus far. Of these, 26 variants were confirmed to be constitutionally present (35.6%). Among patients tested, 23 (56.1%) of 41 total patients were diagnosed with a cancer predisposition syndrome.

Conclusion: Our data demonstrate that more than one third of variants in tumor somatic sequencing that were concerning for underlying cancer predisposition were constitutionally confirmed. Overall, somatic tumor testing identified potential cancer predisposition syndromes in pediatric patients, and some would not have been identified on the basis of clinical history alone.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416724PMC
http://dx.doi.org/10.1200/po.19.00062DOI Listing

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