细针穿刺活检在葡萄膜黑色素瘤诊断和预后评估中的应用

doi:10.3760/cma.j.issn.1674-845X.2020.02.001

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摘要葡萄膜黑色素瘤是一种罕见的原发性眼内恶性肿瘤。准确的诊断对葡萄膜黑色素瘤患者的正确治疗至关重要。近年来，细针穿刺（FNA）活检越来越多地用于眼内肿瘤的评估。现简要介绍FNA技术，阐明FNA诊断葡萄膜黑色素瘤的细胞形态学和免疫表型特征，并讨论葡萄膜黑色素瘤的预后因素。

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	蔡国平

关键词 ：葡萄膜黑色素瘤, 细针穿刺活检, 诊断, 预后

Abstract：Uveal melanoma is an uncommon primary malignant neoplasm of the eye. Accurate diagnosis is crucial for appropriate management of patients with uveal melanoma. Fine needle aspiration (FNA) biopsy has increasingly been used in the evaluation of intraocular tumors. This review gives a brief introduction of FNA biopsy technique, illustrates the cytomorphologic and immunophenotypic features on which the FNA diagnosis of uveal melanoma is based, as well as discusses the prognostic factors of uveal melanoma.

Key words： uveal melanoma fine needle aspiration diagnosis prognosis

收稿日期: 2019-10-23

通讯作者: 蔡国平（ORCID：0000-0002-8725-5940），Email：guoping.cai@yale.edu

引用本文:

蔡国平. 细针穿刺活检在葡萄膜黑色素瘤诊断和预后评估中的应用[J]. 中华眼视光学与视觉科学杂志, 2020, 22(2): 81-86. Guoping Cai. Diagnosis and Prognostic Evaluation of Uveal Melanoma via Fine Needle Aspiration Biopsy. Chinese Journal of Optometry Ophthalmology and Visual science, 2020, 22(2): 81-86. DOI: 10.3760/cma.j.issn.1674-845X.2020.02.001

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http://www.cjoovs.com/CN/10.3760/cma.j.issn.1674-845X.2020.02.001 或 http://www.cjoovs.com/CN/Y2020/V22/I2/81

[1]	Aronow ME, Topham AK, Singh AD. Uveal melanoma: 5-year update on incidence, treatment, and survival (SEER 1973-2013). Ocul Oncol Pathol, 2018, 4(3): 145-151. DOI: 10.1159/000480640.
[2]	Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science, 2010, 330(6009): 1410-1413. DOI: 10.1126/science.1194472.
[3]	Robertson AG, Shih J, Yau C, et al. Integrative analysis identifies four molecular and clinical subsets in uveal melanoma. Cancer Cell, 2017, 32(2): 204-220. e15. DOI: 10.1016/j.ccell.2017.07. 003.
[4]	Masoomian B, Shields JA, Shields CL. Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma. J Curr Ophthalmol, 2018, 30(2): 102-109. DOI: 10.1016/j.joco.2018.02.005.
[5]	Jakobiec FA, Coleman DJ, Chattock A, et al. Ultrasonically guided needle biopsy and cytologic diagnosis of solid intraocular tumors. Ophthalmology, 1979, 86(9): 1662-1681. DOI: 10.1016/s0161-6420(79)35349-0.
[6]	Eide N, Walaas L. Fine-needle aspiration biopsy and other biopsies in suspected intraocular malignant disease: A review. Acta Ophthalmol, 2009, 87(6): 588-601. DOI: 10.1111/j.1755- 3768.2009.01637.x.
[7]	McCannel TA. Fine-needle aspiration biopsy in the management of choroidal melanoma. Curr Opin Ophthalmol, 2013, 24(3): 262-266. DOI: 10.1097/ICU.0b013e32835ff001.
[8]	Sellam A, Desjardins L, Barnhill R, et al. Fine needle aspiration biopsy in uveal melanoma: technique, complications, and outcomes. Am J Ophthalmol, 2016, 162: 28-34. e1. DOI: 10.1016/j.ajo.2015.11.005.
[9]	van den Bosch T, Kilic E, Paridaens D, et al. Genetics of uveal melanoma and cutaneous melanoma: two of a kind? Dermatol Res Pract, 2010, 2010: 360136. DOI: 10.1155/2010/360136.
[10]	Shields CL, Ganguly A, Bianciotto CG, et al. Prognosis of uveal melanoma in 500 cases using genetic testing of fine-needle aspiration biopsy specimens. Ophthalmology, 2011, 118(2): 396- 401. DOI: 10.1016/j.ophtha.2010.05.023.
[11]	Klufas MA, Itty S, McCannel CA, et al. Variable results for uveal melanoma-specific gene expression profile prognostic test in choroidal metastasis. JAMA Ophthalmol, 2015, 133(9): 1073- 1076. DOI: 10.1001/jamaophthalmol.2015.1790.
[12]	Schopper VJ, Correa ZM. Clinical application of genetic testing for posterior uveal melanoma. Int J Retina Vitreous, 2016, 2:4. DOI: 10.1186/s40942-016-0030-2.
[13]	Brewington BY, Shao YF, Davidorf FH, et al. Brachytherapy for patients with uveal melanoma: historical perspectives and future treatment directions. Clin Ophthalmol, 2018, 12: 925-934. DOI: 10.2147/OPTH.S129645.
[14]	Chua V, Aplin AE. Novel therapeutic strategies and targets in advanced uveal melanoma. Curr Opin Oncol, 2018, 30(2): 134- 141. DOI: 10.1097/CCO.0000000000000425.
[15]	McCannel TA, Chang MY, Burgess BL. Multi-year follow-up of fine-needle aspiration biopsy in choroidal melanoma. Ophthalmology, 2012, 119(3): 606-610. DOI: 10.1016/j.ophtha. 2011.08.046.
[16]	Singh AD, Medina CA, Singh N, et al. Fine-needle aspiration biopsy of uveal melanoma: outcomes and complications. Br J Ophthalmol, 2016, 100(4): 456-462. DOI: 10.1136/ bjophthalmol-2015-306921.
[17]	Iwamoto S, Burrows RC, Kalina RE, et al. Immunophenotypic differences between uveal and cutaneous melanomas. Arch Ophthalmol, 2002, 120(4): 466-470. DOI: 10.1001/archopht. 120.4.466.
[18]	O h s i e S J , S a r a n t o p o u l o s G P, C o c h r a n A J , e t a l . Immunohistochemical characteristics of melanoma. J Cutan Pathol, 2008, 35(5): 433-444. DOI: 10.1111/j.1600- 0560.2007.00891.x.
[19]	Levy C, Khaled M, Fisher DE. MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med, 2006, 12(9): 406-414. DOI: 10.1016/j.molmed.2006.07. 008.
[20]	Perrino CM, Wang JF, Collins BT. Microphthalmia transcription factor immunohistochemistry for FNA biopsy of ocular malignant melanoma. Cancer Cytopathol, 2015, 123(7): 394- 400. DOI: 10.1002/cncy.21531.
[21]	Nonaka D, Chiriboga L, Rubin BP. Sox10: a pan-schwannian and melanocytic marker. Am J Surg Pathol, 2008, 32(9): 1291- 1298. DOI: 10.1097/PAS.0b013e3181658c14.
[22]	Tacha D, Qi W, Ra S, et al. A newly developed mouse monoclonal SOX10 antibody is a highly sensitive and specific marker for malignant melanoma, including spindle cell and desmoplastic melanomas. Arch Pathol Lab Med, 2015, 139(4): 530-536. DOI: 10.5858/arpa.2014-0077-OA.
[23]	Alghamdi SA, Zoroquiain P, Dias AB, et al. Diagnostic value of SOX-10 immunohistochemical staining for the detection of uveal melanoma. Ecancermedicalscience, 2015, 9: 566. DOI: 10.3332/ecancer.2015.566.
[24]	Diener-West M, Hawkins BS, Markowitz JA, et al. A review of mortality from choroidal melanoma. II. A meta-analysis of 5-year mortality rates following enucleation, 1966 through 1988. Arch Ophthalmol, 1992, 110(2): 245-250. DOI: 10.1001/ archopht.1992.01080140101036.
[25]	Shields CL, Furuta M, Thangappan A, et al. Metastasis of uveal melanoma millimeter-by-millimeter in 8033 consecutive eyes. Arch Ophthalmol, 2009, 127(8): 989-998. DOI: 10.1001/ archophthalmol.2009.208.
[26]	Shields JA. Management of uveal melanoma. A continuing dilemma. Cancer, 1993, 72(7): 2067-2068. DOI: 10.1002/1097- 0142(19931001)72.
[27]	Mooy CM, De Jong PT. Prognostic parameters in uveal melanoma: A review. Surv Ophthalmol, 1996, 41(3): 215-228.
[28]	McLean IW, Foster WD, Zimmerman LE, et al. Modifications of Callender's classification of uveal melanoma at the Armed Forces Institute of Pathology. Am J Ophthalmol, 1983, 96(4): 502-509. DOI: 10.1016/s0002-9394(14)77914-0.
[29]	Durie FH, Campbell AM, Lee WR, et al. Analysis of lymphocytic infiltration in uveal melanoma. Invest Ophthalmol Vis Sci, 1990, 31(10): 2106-2110.
[30]	Gamel JW, McLean IW, Greenberg RA, et al. Computerized histologic assessment of malignant potential: a method for determining the prognosis of uveal melanomas. Hum Pathol, 1982, 13(10): 893-897. DOI:10.1016/s0046-8177(82)80048-8.
[31]	Huntington A, Haugan P, Gamel J, et al. A simple cytologic method for predicting the malignant potential of intraocular melanoma. Pathol Res Pract, 1989, 185(5): 631-634. DOI: 10.1016/S0344-0338(89)80208-0.
[32]	Prescher G, Bornfeld N, Hirche H, et al. Prognostic implications of monosomy 3 in uveal melanoma. Lancet, 1996, 347(9010): 1222-1225. DOI:10.1016/s0140-6736(96)90736-9.
[33]	Singh AD, Tubbs R, Biscotti C, et al. Chromosomal 3 and 8 status within hepatic metastasis of uveal melanoma. Arch Pathol Lab Med, 2009, 133(8): 1223-1227. DOI: 10.1043/1543-2165- 133.8.1223.
[34]	Sandinha MT, Farquharson MA, McKay IC, et al. Monosomy 3 predicts death but not time until death in choroidal melanoma. Invest Ophthalmol Vis Sci, 2005, 46(10): 3497-3501. DOI:10.1167/iovs.05-0613.
[35]	Sisley K, Rennie IG, Parsons MA, et al. Abnormalities of chromosomes 3 and 8 in posterior uveal melanoma correlate with prognosis. Genes Chromosomes Cancer, 1997, 19(1): 22- 28.
[36]	Tschentscher F, Hüsing J, H?lter T, et al. Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. Cancer Res, 2003, 63(10): 2578-2584.
[37]	Onken MD, Worley LA, Ehlers JP, et al. Gene expression profiling in uveal melanoma reveals two molecular classes and predicts metastatic death. Cancer Res, 2004, 64(20): 7205-7209. DOI: 10.1158/0008-5472.CAN-04-1750.
[38]	Damato B, Duke C, Coupland SE, et al. Cytogenetics of uveal melanoma: A 7-year clinical experience. Ophthalmology, 2007, 114(10): 1925-1931. DOI: 10.1016/j.ophtha.2007.06.012.
[39]	Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature, 2009, 457(7229): 599-602. DOI: 10.1038/nature07586.
[40]	Bauer J, Kilic E, Vaarwater J, et al. Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. Br J Cancer, 2009, 101(5): 813-815. DOI: 10.1038/ sj.bjc.6605226.
[41]	Ehlers JP, Worley L, Onken MD, et al. DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma. Clin Cancer Res, 2005, 11(10): 3609-3613. DOI: 10.1158/1078-0432.CCR-04-1941.
[42]	Polsky D, Melzer K, Hazan C, et al. HDM2 protein overexpression and prognosis in primary malignant melanoma. J Natl Cancer Inst, 2002, 94(23): 1803-1806. DOI: 10.1093/ jnci/94.23.1803.
[43]	Martin M, Ma?h?fer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet, 2013, 45(8): 933- 936. DOI: 10.1038/ng.2674.
[44]	Yavuzyigitoglu S, Koopmans AE, Verdijk RM, et al. Uveal melanomas with SF3B1 mutations: a distinct subclass associated with late-onset metastases. Ophthalmology, 2016, 123(5): 1118- 1128. DOI: 10.1016/j.ophtha.2016.01.023.
[45]	Young TA, Rao NP, Glasgow BJ, et al. Fluorescent in situ hybridization for monosomy 3 via 30-gauge fine-needle aspiration biopsy of choroidal melanoma in vivo. Ophthalmology, 2007, 114(1): 142-146. DOI: 10.1016/j.ophtha.2006.06.040.
[46]	McCannel TA, Burgess BL, Rao NP, et al. Identification of candidate tumor oncogenes by integrative molecular analysis of choroidal melanoma fine-needle aspiration biopsy specimens. Arch Ophthalmol, 2010, 128(9): 1170-1177. DOI: 10.1001/ archophthalmol.2010.180.
[47]	Villegas VM, Gold A, Murray TG. Fine-needle aspiration biopsy for molecular genomic classification: evaluation of transscleral vs transvitreal biopsy. J Vitreoretinal Dis, 2018, 2(4): 208-212.
[48]	DeParis SW, Taktak A, Eleuteri A, et al. External validation of the liverpool uveal melanoma prognosticator online. Invest Ophthalmol Vis Sci, 2016, 57(14): 6116-6122. DOI: 10.1167/ iovs.16-19654.
[49]	Chappell MC, Char DH, Cole TB, et al. Uveal melanoma: Molecular pattern, clinical features, and radiation response. Am J Ophthalmol, 2012, 154(2): 227-232. e2. DOI: 10.1016/ j.ajo.2012.02.022.
[50]	Onken MD, Worley LA, Char DH, et al. Collaborative ocular oncology group report number 1: Prospective validation of a multi-gene prognostic assay in uveal melanoma. Ophthalmology, 2012, 119(8): 1596-1603. DOI: 10.1016/j.ophtha.2012.02.017.