Clinical and pathological features of 15 patients with choroidal melanoma_Chinese Journal of Ocular Fundus Diseases

Authors：

Hou Yan ¹ , Xie Laiqing ² , Shen Shanshan ¹ , Yang Tianyu ¹ , Lou Xiaoli ¹ ,  Chen Xing ³

1. Department of Pathology, The Second Affiliated Hospital of Soochow University, Suzhou 215004, China;
2. Department of Ophthalmology, The Second Affiliated Hospital of Soochow University, Suzhou 215004, China;
3. Department of Radiology, Suzhou Wuzhong Peoples of Hospital, Suzhou 215128, China;

Corresponding author：

Chen Xing, Email: chen384@126.com

Keywords：

Choroidal melanoma; Clinical features; Pathological features

DOI：

10.3760/cma.j.cn511434-20230313-00112

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Objective To observe the clinical and pathological features of choroidal malignant melanoma (CM). Methods A retrospective case study. From 2011 to 2021, paraffin specimens from 15 eyes of 15 CM patients diagnosed by pathological examination in the Department of Pathology, the Second Affiliated Hospital of Soochow University were included in the study. The age, gender, clinical manifestations, treatment plan and pathological examination results of patients were collected retrospectively through the hospital information system. The clinical characteristics, immunohistochemical staining and molecular pathological characteristics were analyzed. Results Among the 15 cases, 8 males and 7 females. The average age was 61. All patients were monocular paroxysm. There were 8 cases of decreased vision, blurred vision and dark shadow in front of the eyes; 1 case had red eye, lacrimation and purulent secretion; 2 cases had visual loss and no light perception; 4 cases had retinal detachment. The average diameter of the tumors was 1.4 cm. The general appearance of the tumor was hemispherical, “mushroom-shaped” or flat diffuse. Most of the tumor cells were arranged in solid, flaky and cross clusters, and some of them were arranged in false “chrysanthemum form” around the blood vessels with necrosis. In 15 eyes, spindle-cell type, epithelioid type and mixed cell type were 6, 2 and 7 eyes, respectively. The cytoplasm was partly double stained or eosinophilic, partly clear, and partly rich in pigment. The cells had poor adhesion, marked atypia, rough chromatin, frequent mitotic figures, and prominent nucleoli . Immunohistochemical staining was positive for HMB45, SOX10, S100 and Melan-A in 15 patients, but negative for epithelial markers AE1/3, lymphatic markers LCA, neuroendocrine markers CgA and Syn. Genetic testing results showed that none of the patients found C-KIT, BRAF, NRAS gene mutations. Fifteen patients were followed up for 8-96 months, of which 12 survived and 3 died after recurrence and/or metastasis. Conclusion CM has no specific clinical clinical manifestations, and he diagnosis depends on histological morphology and immunohistochemical staining.

Citation： Hou Yan, Xie Laiqing, Shen Shanshan, Yang Tianyu, Lou Xiaoli, Chen Xing. Clinical and pathological features of 15 patients with choroidal melanoma. Chinese Journal of Ocular Fundus Diseases, 2023, 39(10): 817-822. doi: 10.3760/cma.j.cn511434-20230313-00112 Copy

1.	苏静, 应建明, 刘业强, 等. 黑色素瘤病理诊断临床实践指南(2021版)[J]. 中华病理学杂志, 2021, 50(6): 572-582. DOI: 10.3760/cma.j.cn112151-20210417-00299.Su J, Ying JM, Liu YQ, et al. Chinese guidelines on standardized pathological diagnosis of melanoma(2021 version)[J]. Chin J Pathol, 2021, 50(6): 572-582. DOI: 10.3760/cma.j.cn112151-20210417-00299.
2.	中国医药教育协会眼科专业委员会, 中华医学会眼科学分会眼整形眼眶病学组, 中国抗癌协会眼肿瘤专业委员会. 中国葡萄膜黑色素瘤诊疗专家共识(2021年)[J]. 中华眼科杂志, 2021, 57(12): 886-897. DOI: 10.3760/cma.j.cn112142-20210926-00452.Ophthalmological Society of China Medicine Education Association, Oculoplastic and Orbital Disease Group of Chinese Ophthalmological Society of Chinese Medical Association, Ocular Oncology Committee of China Anti-Cancer Association. Chinese expert consensus on diagnosis and treatment of uveal melanoma (2021)[J]. Chin J Ophthalmol, 2021, 57(12): 886-897. DOI: 10.3760/cma.j.cn112142-20210926-00452.
3.	Shields CL, Kels JG, Shields JA. Melanoma of the eye: revealing hidden secrets, one at a time[J]. Clin Dermatol, 2015, 33(2): 183-196. DOI: 10.1016/j.clindermatol.2014.10.010.
4.	Smit KN, Jager MJ, de Klein A, et al. Uveal melanoma: towards a molecular understanding[J/OL]. Prog Retin Eye Res, 2020, 75: 100800[2019-09-26]. https://pubmed.ncbi.nlm.nih.gov/31563544/. DOI: 10.1016/j.preteyeres.2019.100800.
5.	Li Y, Jia R, Ge S. Role of epigenetics in uveal melanoma[J]. Int J Biol Sci, 2017, 13(4): 426-433. DOI: 10.7150/ijbs.18331.
6.	Chai P, Yu J, Jia R, et al. Generation of onco-enhancer enhances chromosomal remodeling and accelerates tumorigenesis[J]. Nucleic Acids Res, 2020, 48(21): 12135-12150. DOI: 10.1093/nar/gkaa1051.
7.	Vader MJC, Madigan MC, Versluis M, et al. GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi[J]. Br J Cancer, 2017, 117(6): 884-887. DOI: 10.1038/bjc.2017.259.
8.	Pan H, Jia R, Zhang L, et al. BAP1 regulates cell cycle progression through E2F1 target genes and mediates transcriptional silencing via H2A monoubiquitination in uveal melanoma cells[J]. Int J Biochem Cell Biol, 2015, 60: 176-184. DOI: 10.1016/j.biocel.2015.01.001.
9.	Furney SJ, Pedersen M, Gentien D, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma[J]. Cancer Discovery, 2013, 3(10): 1122-1129. DOI:10.1158/2159-8290.CD-13-0330.
10.	Xing Y, Wen X, Ding X, et al. CANT1 lncRNA triggers efficient therapeutic efficacy by correcting aberrant incing cascade in malignant uveal melanoma[J]. Mol Ther, 2017, 25(5): 1209-1221. DOI: 10.1016/j.ymthe.2017.02.016.
11.	张举, 魏文斌, 李彬, 等. 蕈伞形葡萄膜黑色素瘤的临床病理学特征分析[J]. 中华眼底病杂志, 2020, 36(2): 127-130. DOI: 10.3760/cma.j.issn.1005-1015.2020.02.008.Zhang J, Wei WB, Li B, et al. Clinical pathology analysis of patients with mushroom shaped uveal melanoma[J]. Chin J Ocul Fundus Dis, 2020, 36(2): 127-130. DOI: 10.3760/cma.j.issn.1005-1015.2020.02.008.
12.	张举, 顼晓琳, 李彬, 等. 葡萄膜黑色素瘤瘤体生长对视网膜和巩膜浸润的影响[J]. 中华眼科杂志, 2016, 52(10): 749-754. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.007.Zhang J, Xu XL, Li B, et al. Characteristics of retinal and scleral infiltration in uveal melanoma[J]. Chin J Ophthalmol, 2016, 52(10): 749-754. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.007.
13.	Manchegowda P, Singh AD, Shields C, et al. Uveal melanoma in Asians: a review[J]. Ocul Oncol Pathol, 2021, 7: 159-167. DOI: 10.1159/000512738.
14.	崔红霞, 王超, 沈珊珊, 等. 肛管直肠恶性黑色素瘤14例临床病理学分析[J]. 中华病理学杂志, 2022, 51(7): 650-652. DOI: 10.3760/cma.j.cn112151-20210920-00690.Cui HX, Wang C, Shen SS, et al. Anorectal malignant melanoma: a clinicopathological analysis of fourteen cases[J]. Chin J Pathol, 2022, 51(7): 650-652. DOI: 10.3760/cma.j.cn112151-20210920-00690.
15.	Si L, Kong Y, Xu X, et al. Prevalence of BRAF V600E mutation in Chinese melanoma patients: large scale analysis of BRAF and NRAS mutations in a 432-case cohort[J]. Eur J Cancer, 2012, 48(1): 94-100. DOI: 10.1016/j.ejca.2011.06.056.
16.	Cheng L, Lopez-Beltran A, Massari F, et al. Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine[J]. Mod Pathol, 2018, 31(1): 24-38. DOI: 10.1038/modpathol.2017.104.
17.	Wei X, Mao L, Chi Z, et al. Efficacy evaluation of Imatinib for the treatment of melanoma: evidence from a retrospective study[J]. Oncol Res, 2019, 27(4): 495-501. DOI: 10.3727/096504018X15331163433914.
18.	Dummer R, Schadendorf D, Ascierto PA, et al. Binimetinib versus dacarbazine in patients with advanced NRAS-mutant melanoma (NEMO): a multicentre, open-label, randomised, phase 3 trial[J]. Lancet Oncol, 2017, 18(4): 435-445. DOI: 10.1016/S1470-2045(17)30180-8.
19.	Yordi S, Soto H, Bowen RC, et al. Photodynamic therapy for choroidal melanoma: what is the response rate?[J]. Surv Ophthalmol, 2021, 66(4): 552-559. DOI: 10.1016/j.survophthal.2020.09.006.

1. 苏静, 应建明, 刘业强, 等. 黑色素瘤病理诊断临床实践指南(2021版)[J]. 中华病理学杂志, 2021, 50(6): 572-582. DOI: 10.3760/cma.j.cn112151-20210417-00299.Su J, Ying JM, Liu YQ, et al. Chinese guidelines on standardized pathological diagnosis of melanoma(2021 version)[J]. Chin J Pathol, 2021, 50(6): 572-582. DOI: 10.3760/cma.j.cn112151-20210417-00299.
2. 中国医药教育协会眼科专业委员会, 中华医学会眼科学分会眼整形眼眶病学组, 中国抗癌协会眼肿瘤专业委员会. 中国葡萄膜黑色素瘤诊疗专家共识(2021年)[J]. 中华眼科杂志, 2021, 57(12): 886-897. DOI: 10.3760/cma.j.cn112142-20210926-00452.Ophthalmological Society of China Medicine Education Association, Oculoplastic and Orbital Disease Group of Chinese Ophthalmological Society of Chinese Medical Association, Ocular Oncology Committee of China Anti-Cancer Association. Chinese expert consensus on diagnosis and treatment of uveal melanoma (2021)[J]. Chin J Ophthalmol, 2021, 57(12): 886-897. DOI: 10.3760/cma.j.cn112142-20210926-00452.
3. Shields CL, Kels JG, Shields JA. Melanoma of the eye: revealing hidden secrets, one at a time[J]. Clin Dermatol, 2015, 33(2): 183-196. DOI: 10.1016/j.clindermatol.2014.10.010.
4. Smit KN, Jager MJ, de Klein A, et al. Uveal melanoma: towards a molecular understanding[J/OL]. Prog Retin Eye Res, 2020, 75: 100800[2019-09-26]. https://pubmed.ncbi.nlm.nih.gov/31563544/. DOI: 10.1016/j.preteyeres.2019.100800.
5. Li Y, Jia R, Ge S. Role of epigenetics in uveal melanoma[J]. Int J Biol Sci, 2017, 13(4): 426-433. DOI: 10.7150/ijbs.18331.
6. Chai P, Yu J, Jia R, et al. Generation of onco-enhancer enhances chromosomal remodeling and accelerates tumorigenesis[J]. Nucleic Acids Res, 2020, 48(21): 12135-12150. DOI: 10.1093/nar/gkaa1051.
7. Vader MJC, Madigan MC, Versluis M, et al. GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi[J]. Br J Cancer, 2017, 117(6): 884-887. DOI: 10.1038/bjc.2017.259.
8. Pan H, Jia R, Zhang L, et al. BAP1 regulates cell cycle progression through E2F1 target genes and mediates transcriptional silencing via H2A monoubiquitination in uveal melanoma cells[J]. Int J Biochem Cell Biol, 2015, 60: 176-184. DOI: 10.1016/j.biocel.2015.01.001.
9. Furney SJ, Pedersen M, Gentien D, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma[J]. Cancer Discovery, 2013, 3(10): 1122-1129. DOI:10.1158/2159-8290.CD-13-0330.
10. Xing Y, Wen X, Ding X, et al. CANT1 lncRNA triggers efficient therapeutic efficacy by correcting aberrant incing cascade in malignant uveal melanoma[J]. Mol Ther, 2017, 25(5): 1209-1221. DOI: 10.1016/j.ymthe.2017.02.016.
11. 张举, 魏文斌, 李彬, 等. 蕈伞形葡萄膜黑色素瘤的临床病理学特征分析[J]. 中华眼底病杂志, 2020, 36(2): 127-130. DOI: 10.3760/cma.j.issn.1005-1015.2020.02.008.Zhang J, Wei WB, Li B, et al. Clinical pathology analysis of patients with mushroom shaped uveal melanoma[J]. Chin J Ocul Fundus Dis, 2020, 36(2): 127-130. DOI: 10.3760/cma.j.issn.1005-1015.2020.02.008.
12. 张举, 顼晓琳, 李彬, 等. 葡萄膜黑色素瘤瘤体生长对视网膜和巩膜浸润的影响[J]. 中华眼科杂志, 2016, 52(10): 749-754. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.007.Zhang J, Xu XL, Li B, et al. Characteristics of retinal and scleral infiltration in uveal melanoma[J]. Chin J Ophthalmol, 2016, 52(10): 749-754. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.007.
13. Manchegowda P, Singh AD, Shields C, et al. Uveal melanoma in Asians: a review[J]. Ocul Oncol Pathol, 2021, 7: 159-167. DOI: 10.1159/000512738.
14. 崔红霞, 王超, 沈珊珊, 等. 肛管直肠恶性黑色素瘤14例临床病理学分析[J]. 中华病理学杂志, 2022, 51(7): 650-652. DOI: 10.3760/cma.j.cn112151-20210920-00690.Cui HX, Wang C, Shen SS, et al. Anorectal malignant melanoma: a clinicopathological analysis of fourteen cases[J]. Chin J Pathol, 2022, 51(7): 650-652. DOI: 10.3760/cma.j.cn112151-20210920-00690.
15. Si L, Kong Y, Xu X, et al. Prevalence of BRAF V600E mutation in Chinese melanoma patients: large scale analysis of BRAF and NRAS mutations in a 432-case cohort[J]. Eur J Cancer, 2012, 48(1): 94-100. DOI: 10.1016/j.ejca.2011.06.056.
16. Cheng L, Lopez-Beltran A, Massari F, et al. Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine[J]. Mod Pathol, 2018, 31(1): 24-38. DOI: 10.1038/modpathol.2017.104.
17. Wei X, Mao L, Chi Z, et al. Efficacy evaluation of Imatinib for the treatment of melanoma: evidence from a retrospective study[J]. Oncol Res, 2019, 27(4): 495-501. DOI: 10.3727/096504018X15331163433914.
18. Dummer R, Schadendorf D, Ascierto PA, et al. Binimetinib versus dacarbazine in patients with advanced NRAS-mutant melanoma (NEMO): a multicentre, open-label, randomised, phase 3 trial[J]. Lancet Oncol, 2017, 18(4): 435-445. DOI: 10.1016/S1470-2045(17)30180-8.
19. Yordi S, Soto H, Bowen RC, et al. Photodynamic therapy for choroidal melanoma: what is the response rate?[J]. Surv Ophthalmol, 2021, 66(4): 552-559. DOI: 10.1016/j.survophthal.2020.09.006.

Previous Article
A single-center retrospective clinical study on comprehensive treatment for 157 patients with retinoblastoma
Next Article
Fundus image observation of choroidal nodules in neurofibromatosis type 1

Chinese Journal of Ocular Fundus Diseases

Clinical and pathological features of 15 patients with choroidal melanoma

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content