Skip to main content

Advertisement

Log in

Whole-exome sequencing of a meningeal melanocytic tumour reveals activating CYSLTR2 and EIF1AX hotspot mutations and similarities to uveal melanoma

  • Letter to the Editor
  • Published:
Brain Tumor Pathology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2

Abbreviations

UM:

Uveal melanoma

CM:

Cutaneous melanoma

References

  1. Cerami E, Gao J, Dogrusoz U et al (2012) The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov 2:401–404

    Article  PubMed  Google Scholar 

  2. Durinck S, Ho C, Wang NJ et al (2011) Temporal dissection of tumorigenesis in primary cancers. Cancer Discov 1:137–143

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Kurokawa R, Kim P, Kawamoto T et al (2013) Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis. Neurol Med Chir 53:730–734

    Article  Google Scholar 

  4. Kusters-Vandevelde HV, Kusters B, van Engen-van Grunsven AC et al (2015) Primary melanocytic tumors of the central nervous system: a review with focus on molecular aspects. Brain Pathol 25:209–226

    Article  PubMed  Google Scholar 

  5. Martin M, Masshofer L, Temming P et al (2013) Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 45:933–936

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Network CGAR. (2014) Comprehensive molecular characterization of gastric adenocarcinoma. Nature 513:202–209

    Article  Google Scholar 

  7. Nik-Zainal S, Davies H, Staaf J et al (2016) Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature 534:47–54

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Robinson JT, Thorvaldsdóttir H, Winckler W et al (2011) Integrative genomics viewer. Nat Biotechnol 29:24–26

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Thomas AC, Zeng Z, Rivière JB et al (2016) Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 136:770–778

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. van de Nes JAP, Koelsche C, Gessi M et al (2017) Activating CYSLTR2 and PLCB4 mutations in primary leptomeningeal melanocytic tumors. J Invest Dermatol 137:2033–2035

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We would like to thank the patient for allowing us to undertake these analyses and to share these data. We thank Dr. J. Koten for critically revising the manuscript. We are grateful to Marcel Jeunink for the assistance with the molecular analyses.

Funding

This work was supported by Cancer Research UK and the Wellcome Trust.

Author information

Authors and Affiliations

Authors

Contributions

HK, MG, and ML designed the study, made substantial contributions to the acquisition and interpretation of data and wrote the manuscript. RR and DJA made substantial contributions to the acquisition and interpretation of molecular data, and were major contributors in writing the manuscript. MR, RB, CP, and WB contributed to the acquisition and interpretation of molecular data and WB and HK reviewed the histology. All authors were involved in drafting the manuscript or in its critical revisions, and participated sufficiently to take public responsibility for appropriate portions of the content. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Heidi V. N. Küsters-Vandevelde.

Ethics declarations

Conflict of interest

The authors report no conflicts of interest.

Ethical approval and consent to participate

Ethical approval was sought from the Commisie Mensgebonden Onderzoek, Nijmegen, Netherlands (CMO, ref.nr/Dossiernummer: 2016–2863). Written informed consent was obtained from the patient for publication of this case report and its accompanying images. A copy of the written consent is available for review by the editor.

Electronic supplementary material

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Küsters-Vandevelde, H.V.N., Germans, M.R., Rabbie, R. et al. Whole-exome sequencing of a meningeal melanocytic tumour reveals activating CYSLTR2 and EIF1AX hotspot mutations and similarities to uveal melanoma. Brain Tumor Pathol 35, 127–130 (2018). https://doi.org/10.1007/s10014-018-0308-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10014-018-0308-1

Navigation