2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Evaluating the utility of gene expression profile testing in pediatric melanoma: a Case Series

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This document is a case series that evaluates the utility of gene expression profile (GEP) testing in pediatric melanoma. The authors report on three cases of pediatric and adolescent melanoma and their outcomes. Only two of the patients underwent GEP testing, resulting in Class 2A and 2B classifications. Patient A, classified as Class 2B, underwent extensive treatment including surgery, radiation, and immunotherapy but remained disease-free. Patient B, classified as 2A, was observed closely and also remained disease-free. Patient C, who declined GEP testing and opted for observation, developed metastases. <br /><br />The case series highlights the potential influence of GEP testing on patient therapy and outcomes but acknowledges the need for additional studies to determine its clinical value. The abstract provides more details about each patient's diagnosis, treatment, and outcomes. Patient A, a 13-year-old male, was diagnosed with melanoma at Stage IIIc and received various treatments without subsequent metastases. Patient B, a 20-year-old female, was diagnosed at Stage II and was closely observed without metastases. Patient C, who did not undergo GEP testing and opted for observation, developed metastases.<br /><br />The document concludes that GEP testing appears to inform clinicians and patients about their risk of metastasis and recurrence in five years. However, more research is needed to assess the utility of GEP testing in pediatric patients and to determine its use in screening for melanoma in children with risk factors.<br /><br />Overall, this study suggests that GEP testing may provide valuable information for risk assessment and treatment decisions in pediatric melanoma cases, but further research is necessary to fully understand its potential benefits.

Asset Subtitle

Presenting Author - Acacia Bowden, BA; Co-Author - Jeanette Zambito, MD; Co-Author - Jinia El-Feghaly, MD; Co-Author - Jeffrey Andolina, MS, MD;

Meta Tag

Counseling

Genetic Testing

Co-Author Jeanette Zambito, MD

Co-Author Jinia El-Feghaly, MD

Co-Author Jeffrey Andolina, MS, MD

Presenting Author Acacia Bowden, BA

Keywords

gene expression profile testing

pediatric melanoma

case series

utility

outcomes

GEP testing classifications

treatment options

metastases

risk assessment

pediatric patients