Melanoma
Liberty Dupuis, BA
Medical Student
Larner College of Medicine, United States
Liberty Dupuis, BA
Medical Student
Larner College of Medicine, United States
Peter Callas, B.A., M.S., Ph.D.
Research Associate Professor
University of Vermont, United States
Kara Landry, MD
Assistant Professor of Medicine, Co-Director, Cancer Genetics and Prevention Program
University of Vermont Medical Center, United States
Simran Kalsi, BA
Medical Student
Larner College of Medicine, United States
.jpg "Anupama Balasubramanian, BA photo")
Anupama Balasubramanian, BA
Medical Student
Larner College of Medicine, United States
Wendy McKinnon, MS
Cancer Genetics Counselor, Clinical Assistant Professor
University of Vermont Medical Center, United States
Jessica A. Cintolo-Gonzalez, MD
Associate Professor
Department of Surgery, University of Vemont
Williston, Vermont, United States
Jessica A. Cintolo-Gonzalez, MD
Associate Professor
Department of Surgery, University of Vemont
Williston, Vermont, United States
Jennifer Chen, BA
Medical Student
Larner College of Medicine, University of Vermont, United States
Although most melanoma is sporadic and heavily influenced by environmental factors, an estimated 5-10% of cutaneous malignant melanomas are hereditary. We conducted a retrospective cohort study to identify factors associated with referral for and completion of genetic testing, assess concordance with nationally established guidelines, and determine rates of positivity for pathogenic mutations.
Methods:
This study retrospectively reviewed 604 patients who presented with newly diagnosed malignant melanoma from 2018-2022 via the Vermont Cancer Center Registry. Demographic, clinical, and pathologic factors were assessed for association with genetics referral and uptake of genetic testing using Fisher’s exact test. We used NCCN criteria: individual or family with 3 or more invasive cutaneous melanoma or mix of invasive melanoma, pancreatic cancer, and/or astrocytoma, or invasive melanoma and a first degree relative with pancreatic cancer, to determine concordance with national guidelines.
Results:
Approximately 10% of patients were referred for genetic testing. Of those referred, 76% completed genetic testing. Demographic factors were not significantly associated with referral or testing uptake. Forty-three percent of patients with three or more melanomas were referred for genetic testing. Personal history of melanoma and increasing numbers of prior melanomas were associated with referral and uptake of genetic testing (p < 0.001). Only 21% of patients with family history of pancreatic cancer and 25% of patients with a personal history of pancreatic cancer were referred for genetic testing. Increasing numbers of 1st and 2nd degree family members having a melanoma history was associated with genetics referral and testing (p < 0.001). Type of provider at initial consult also impacted referral with a higher percentage of patients being referred by oncologic subspecialities (p=0.05). Twelve percent of those tested harbored pathogenic mutations, making the total percentage of patients testing positive for hereditary melanoma 0.9%. Variants found in this population included BAP1 (40%), CDK4 (20%), POT1 (20%), MITF (20%).
Conclusions: This study demonstrates that patients who meet NCCN criteria for genetic counseling are being under-referred. The actual percentage of patients harboring pathogenic mutations in our cohort is likely higher. Further study into practice patterns and strategies to improve adherence to national guidelines is recommended.