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Comparative genomic characterization of melanoma of known and unknown primary

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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.

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Data availability

The data are publically available on https://www.cbioportal.org/.

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Funding

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Author information

Authors and Affiliations

  1. Gustave Roussy, Département de médecine oncologique, 94805, Villejuif, France

    E. Rassy

  2. Department of Oncology, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon

    E. Rassy & J. Kattan

  3. Faculty of Life Sciences and Medicine, School of Cancer and Pharmaceutical Sciences, King’s College London, London, SE1 9RT, UK

    S. Boussios

  4. Medway NHS Foundation Trust, Windmill Road, Gillingham, Kent, ME7 5NY, UK

    S. Boussios

  5. AELIA Organization, 9th Km Thessaloniki, Thermi, 57001, Thessaloniki, Greece

    S. Boussios

  6. Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon

    A. Chebly & C. Farra

  7. Department of Genetics, Hotel Dieu de France Medical Center, Beirut, Lebanon

    C. Farra

  8. University of Ioannina, 45110, Ioannina, Greece

    N. Pavlidis

Authors
  1. E. Rassy
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  2. S. Boussios
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  3. A. Chebly
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  4. C. Farra
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  5. J. Kattan
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  6. N. Pavlidis
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Contributions

Study concept and design: ER and NP; data acquisition: ER and AC; data analysis and interpretation: ER, AC and SB; statistical analysis: ER; manuscript editing and critical review: SB, CF, JK, and NP.

Corresponding author

Correspondence to E. Rassy.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethics approval

The data from the cBioPortal database do not require ethical approval.

Informed consent

The datasets are publically available. there was not any interactions with the patients who remain anyonymous on the cbioportal plateform.

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Rassy, E., Boussios, S., Chebly, A. et al. Comparative genomic characterization of melanoma of known and unknown primary. Clin Transl Oncol 23, 2302–2308 (2021). https://doi.org/10.1007/s12094-021-02629-2

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  • DOI: https://doi.org/10.1007/s12094-021-02629-2

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