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Laboratory science
Heterogeneity of GNAQ/11 mutation inversely correlates with the metastatic rate in uveal melanoma
  1. Chen Liang1,2,
  2. Lan ya Peng3,
  3. Ming Zou1,
  4. Xuemei Chen4,
  5. Yingying Chen1,
  6. Hou Chen1,
  7. Lirong Xiao2,
  8. Naihong Yan2,
  9. Junjun Zhang1,
  10. Qing Zhao1,
  11. Xi Huang1
  1. 1 Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
  2. 2 Research Laboratory of Ophthalmology and Vision Sciences, State key Laboratory of Biotherapy, West China Hospital, SiChuan University, Cheng Du, Sichuan, China
  3. 3 Medical department, West China Hospital, Sichuan University, Chengdu, Sichuan, China
  4. 4 Research core facility, West China Hospital, Sichuan University, Cheng Du, Sichuan, China
  1. Correspondence to Dr Chen Liang, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 610017, China; 85882216{at}qq.com; Dr Qing Zhao, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 610017, China; 919656931{at}qq.com; Dr Xi Huang, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 610017, China; doctorhyh{at}hotmail.com

Abstract

Purpose To determine whether the GNAQ/11 mutation correlated with the outcome of patients with uveal melanoma (UM) when genetic heterogeneity was considered.

Methods We performed a retrospective study of sixty-seven patients with UM. The heterogeneity of GNAQ/11 was examined by using droplet digital PCR. The correlation between metastasis and heterogeneity of the GNAQ/11 mutation was analysed. Disease free survival curves were constructed using the Kaplan-Meier method, and the Wilcoxon log-rank test was used to compare the curves.

Results The GNAQ/11 mutation ratio was varied between each case. Among these patients, 28.35% of them harboured homogeneous mutation of GNAQ/11, 62.69% present heterogeneous mutation and 8.96% didn’t present either GNAQ or GNA11 mutation. The tumour with heterogeneous mutation of GNAQ/11 has a higher metastatic rate than that with homogeneous mutation (13/29 vs 1/18, p=0.027). In Kaplan-Meier analysis, metastasis-free survival was not significantly associated with either homogeneous or heterogeneous mutation of GNAQ/11.

Conclusion The mutation ratio of GNAQ/11 in UM was quite variable. The tumour with heterogeneous mutation of GNAQ/11 is more likely to develop a poor prognosis than that with homogeneous mutation of GNAQ/11.

  • genetics
  • choroid
  • neoplasia

https://doi.org/10.1136/bjophthalmol-2019-314867

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    Footnotes

    • Correction notice This paper has been modified since it was published online. In the penultimate paragraph of the discussion, a sentence ‘In our study, the GNAQ/11 mutation of five (7.46%) patients detected by ddPCR were found by Sanger's sequence’ has been changed to ‘In our study, the GNAQ/11 mutation of five (7.46%) patients detected by ddPCR were not found by Sanger's sequence.’

    • Contributors CL: writing, funding and conceptualisation; LP: investigation; ZM: Data curation, XC: methodology; YC: data analysis; HC: investigation; LX: validation; NY: resources; JZ: resources; QZ: conceptualisation and investigation; XH: Writing/review and editing.

    • Funding This work was supported by the National Nature Science Foundation of China (#81700850) and China Postdoctoral Science Foundation (#2018M631085).

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Ethics approval The study followed the tenets of the Declaration of Helsinki, and was approved by the West China Hospital Research Ethics Committee.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.