In:
British Journal of Ophthalmology, BMJ, Vol. 105, No. 4 ( 2021-04), p. 587-592
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0007-1161
,
1468-2079
DOI:
10.1136/bjophthalmol-2019-314867
Language:
English
Publisher:
BMJ
Publication Date:
2021
detail.hit.zdb_id:
1482974-5
