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GERMLINE GENOMIC FINDINGS IN CHILDREN AND YOUNG ADULTS WITH MELANOCYTIC TUMORS
  • +4
  • Margaret Nagel,
  • Melissa R. Perrino,
  • Regina Nuccio,
  • Alise Blake,
  • Lynn Harrison,
  • Kim Nichols,
  • Alberto Pappo
Margaret Nagel
St Jude Children's Research Hospital

Corresponding Author:[email protected]

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Melissa R. Perrino
St Jude Children's Research Hospital
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Regina Nuccio
Concert Genetics Franklin TN USA
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Alise Blake
St Jude Children's Research Hospital
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Lynn Harrison
St Jude Children's Research Hospital
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Kim Nichols
St Jude Children's Research Hospital
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Alberto Pappo
St Jude Children's Research Hospital
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Abstract

In this retrospective study, we examined the prevalence and spectrum of germline variants in cancer predisposition genes in 38 children and young adults with melanocytic lesions who underwent germline genetic testing at St. Jude Children’s Research Hospital. Diagnoses included malignant melanoma (n=19; 50%), spitzoid melanoma (n=14; 37%), and uveal melanoma (n=5; 13%). Five patients (13%) harbored pathogenic variants: one with bi-allelic PMS2, and one each with heterozygous 17q21.31 deletion, TP53, BRIP1, and ATM pathogenic variants. In this convenience cohort, 13% of children and young adults with melanoma who underwent germline testing harbored an underlying cancer predisposition syndrome.
03 Oct 2022Submission Checks Completed
03 Oct 2022Assigned to Editor
03 Oct 2022Submitted to Pediatric Blood & Cancer
15 Oct 2022Reviewer(s) Assigned
30 Oct 2022Review(s) Completed, Editorial Evaluation Pending
15 Nov 2022Editorial Decision: Revise Major
16 Feb 20231st Revision Received
16 Feb 2023Submission Checks Completed
16 Feb 2023Assigned to Editor
16 Feb 2023Review(s) Completed, Editorial Evaluation Pending
23 Feb 2023Reviewer(s) Assigned
15 Mar 2023Editorial Decision: Revise Major
17 Mar 2023Submission Checks Completed
17 Mar 2023Assigned to Editor
17 Mar 20232nd Revision Received
17 Mar 2023Review(s) Completed, Editorial Evaluation Pending
27 Mar 2023Editorial Decision: Accept