E Rassy1,2, S Boussios3,4,5, A Chebly6, C Farra6,7, J Kattan8, N Pavlidis9. 1. Gustave Roussy, Département de médecine oncologique, 94805, Villejuif, France. elie.rassy@hotmail.com. 2. Department of Oncology, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon. elie.rassy@hotmail.com. 3. Faculty of Life Sciences and Medicine, School of Cancer and Pharmaceutical Sciences, King's College London, London, SE1 9RT, UK. 4. Medway NHS Foundation Trust, Windmill Road, Gillingham, Kent, ME7 5NY, UK. 5. AELIA Organization, 9th Km Thessaloniki, Thermi, 57001, Thessaloniki, Greece. 6. Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon. 7. Department of Genetics, Hotel Dieu de France Medical Center, Beirut, Lebanon. 8. Department of Oncology, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon. 9. University of Ioannina, 45110, Ioannina, Greece.
Abstract
BACKGROUND: This study aims to genomically characterize melanoma of unknown primary (MUP) in comparison to melanomas of cutaneous primary (MCP). METHODS: Eligible cases were collected from the MSK-IMPACT™ Clinical Sequencing Cohort published in the cBioPortal database. Genomic analysis was performed using a hybridization-capture-based next-generation sequencing assay designed to detect mutations, small insertions and deletions, copy number alterations, and genomic rearrangements. RESULTS: Among 462 patients of whom 18.4% had MUP, brain metastasis was more common among patients with MUP (23% vs 7.1%). The differences in genomic profiling between MCP and MUP did not reach statistical significance. The 187 MCP and 44 MUP patients treated with immune checkpoint inhibitors had a median overall survival of 49 and 44 months, respectively (p = 0.705). CONCLUSIONS: The differences in somatic mutation patterns and survival outcomes were not statistically significant. These findings may allude to similar carcinogenic processes but should be considered exploratory and interpreted with caution.
BACKGROUND: This study aims to genomically characterize melanoma of unknown primary (MUP) in comparison to melanomas of cutaneous primary (MCP). METHODS: Eligible cases were collected from the MSK-IMPACT™ Clinical Sequencing Cohort published in the cBioPortal database. Genomic analysis was performed using a hybridization-capture-based next-generation sequencing assay designed to detect mutations, small insertions and deletions, copy number alterations, and genomic rearrangements. RESULTS: Among 462 patients of whom 18.4% had MUP, brain metastasis was more common among patients with MUP (23% vs 7.1%). The differences in genomic profiling between MCP and MUP did not reach statistical significance. The 187 MCP and 44 MUP patients treated with immune checkpoint inhibitors had a median overall survival of 49 and 44 months, respectively (p = 0.705). CONCLUSIONS: The differences in somatic mutation patterns and survival outcomes were not statistically significant. These findings may allude to similar carcinogenic processes but should be considered exploratory and interpreted with caution.
Authors: J F Flores; G J Walker; J M Glendening; F G Haluska; J S Castresana; M P Rubio; G C Pastorfide; L A Boyer; W H Kao; M L Bulyk; R L Barnhill; N K Hayward; D E Housman; J W Fountain Journal: Cancer Res Date: 1996-11-01 Impact factor: 12.701