Aktuelle Diagnostik bei choroidalen Nävi

Zusammenfassung

Trotz einer Vielfalt technischer Hilfsmittel zur Dokumentation und Unterstützung der Diagnosesicherung bleibt weiterhin die Abgrenzung zwischen kleinen uvealen Melanomen und großen Nävi schwierig. In vielen Fällen werden nur sorgfältige regelmäßige Kontrollen zum Ausschluss eines Wachstums bzw. zur Feststellung eines unveränderten Erscheinungsbilds empfohlen. In diesem Artikel werden unter Berücksichtigung der aktuellen Literatur die verschiedenen diagnostischen Techniken zur Dokumentation und Differenzierung von choroidalen Nävi vorgestellt.

Abstract

Despite the diversity of techniques for documentation and diagnostics of choroidal nevi, the differential diagnosis, especially regarding small uveal melanomas, remains difficult. In many cases, frequent controls to exclude growth or for the detection of an unchanged appearance are recommended. This article reviews–under consideration of the actual literature–different diagnostic techniques for documentation and differentiation of choroidal nevi.

Schlüsselwörter

Aderhautnävi - Metastasen - uveales Melanom - Autofluoreszenz - EDI-OCT

Key words

choroidal nevi - metastasis - uveal melanoma - autofluorescence - EDI-OCT

• Literatur

• 1 Zimmermann L. Melanocytes, melanocytic nevi, and melanocytomas. Invest Ophthalmol 1965; 4: 11-44
• 2 Sumich O, Mitchel P, Wang J. Choroidal nevi in a white population: The Blue Mountain Eye Study. Arch Ophthalmol 1998; 116: 645-650
• 3 Naumann G, Zimmermann L, Yanoff M. Visual field defect associated with choroidal nevus. Am J Ophthalmol 1966; 62: 914-917
• 4 Gass JD. Problems in the different diagnosis of choroidal nevi and malignant melanoma. The XXXIII Edward Jackson Memorial Lecture. Am J Ophthalmol 1977; 83: 299-323
• 5 Shields CL, Furuta M, Mashayekhi A. et al. Clinical spectrum of choroidal nevi based on age at presentation in 3422 consecutive eyes. Ophthalmology 2008; 115: 546-552
• 6 Nauman G, Yanoff M, Zimmermann L. Histogenesis of malignant melanomas of the uvea. I. Histopathologic characteristics of nevi of the choroids and ciliary body. Arch Ophthalmol 1966; 6: 784-796
• 7 Rohrbach JM, Sobottka B. Tumoren der Choroidea, Nävus. In: Rohrbach JM, Lieb WE. Hrsg. Tumoren des Auges und seiner Adnexe, Textbuch und Atlas unter besonderer Berücksichtigung des klinischen und morphologischen Bildes. 1st ed.. Stuttgart: 1998: 119-121
• 8 Brown G, Shields J, Augsburger J. Amelanotic choroidal nevi. Ophthalmology 1981; 88: 1116-1121
• 9 Shields CL, Maktabi AM, Jahnle E. et al. Halo nevus of the choroid in 150 patients. Arch Ophthalmol 2010; 7: 859-864
• 10 Fournier G, Albert D, Wagoner M. Choroidal halo nevus occuring in a patient with vitiligo. Surv Ophthalmol 1984; 28: 671-672
• 11 Li HK, Shields CL, Mashayekhi A. et al. Giant choroidal nevi: clinical features and natural course in 322 cases. Ophthalmology 2010; 117: 324-333
• 12 Gass J. Stereoscopic Atlas of macular Disease. 3rd ed.. St Louis: Mosby; 1997
• 13 Lewis DA, Albert DM. Choroidal Nevi. III. Retina. 5th ed. Philadelphia: Elsevier Saunders; 2013
• 14 Mashaysekhi A, Siu S, Shields CL. et al. Slow enlargement of choroidal nevi: a long-term follow-up study. Ophthalmology 2011; 118: 382-388
• 15 Singh AD, Mokashi AA, Bena JF. et al. Small choroidal melanocytic lesions: features predictive of growth. Ophthalmology 2006; 113: 1032-1039
• 16 Font R, Zimmermann L, Armaly M. The nature of the orange pigment over a choroidal melanoma: histochemical and electron microscopical observations. Arch Ophthalmol 1974; 91: 359-362
• 17 Smith LT, Irvine AR. Diagnostic significance of orange pigment accumulation over choroidal tumors. Mod Probl Ophthalmol 1974; 12: 536-543
• 18 Pro M, Shields J, Timer T. Serous detachment of macula associated with presumed choroidal nevi. Arch Ophthalmol 1978; 85: 704-710
• 19 Folk JC, Weingeist TA, Coonan P. et al. The treatment of serous macular detachment secondary to choroidal melanoma and nevi. Ophthalmology 1989; 96: 547-551
• 20 Shields CL, Furuta M, Mashayekhi A. et al. Visual acuity in 3422 consecutive eyes with choroidal nevus. Arch Ophthalmol 2007; 11: 1501-1507
• 21 Flindall R, Drance S. Visual field studies of benign choroidal melanoma. Arch Ophthalmol 1969; 81: 41-44
• 22 Gonder J, Ezell P, Shields J. et al. Ocular melanocytosis: a study to determine the prevalence rate of ocular melanocytosis. Ophthalmology 1982; 89: 950-952
• 23 Mishima Y, Mevorah B. Nevus of Ota and nevus of Ito in American Negroes. J Invest Dermatol 1961; 36: 133-154
• 24 Croxatto J, Charles D, Malbran E. Neurofibromatosis associated with nevus of Ota and choroidal melanoma. Am J Ophthalmol 1981; 92: 578-589
• 25 Dutton J, Anderson R, Schleper R. et al. Orbital malignant melanoma and oculodermal melanocytosis: report of two cases and review of the literature. Ophthalmology 1984; 90: 497-507
• 26 Yanoff M, Zimmermann L. Histogenesis of malignant melanomas of the uvea III. Relationship of congenital ocular melanocytosis and neurofibromatosis to uveal melanomas. Arch Ophthalmol 1967; 77: 331-336
• 27 Caporaso N, Greene MH, Tsai S. et al. Cytogenetics in hereditary malignant melanoma and dysplastic nevus syndrome: is dysplastic nevus syndrome a chromosome instability disorder?. Cancer Genet Cytogenet 1987; 24: 299-314
• 28 Albert D, Chang M, Lamping K. et al. The dysplastic nevus syndrome: a pedigree with primary malignant melanoma of the choroid and skin. Ophthalmology 1985; 92: 1728-1734
• 29 Albert D, Searl S, Forget B. et al. Uveal findings in patients with cutaneous melanoma. Am J Ophthalmol 1983; 95: 474-479
• 30 Rodriguez-Sains R. Ocular findings in patients with dysplastic nevus syndrome. Ophthalmology 1986; 93: 661-665
• 31 Gass JD, Gieser RG, Wilkinson CP. et al. Bilateral diffuse uveal melanocytic proliferation in patients with occult carcinoma. Arch Ophthalmol 1990; 108: 527-533
• 32 Margo C, Pavan P, Gendelman D. et al. Bilateral melanocytic uveal tumors associated with systemic nodular malignancy: malignant melanomas or benign paraneoplastic syndrome. Retina 1987; 7: 137-141
• 33 McLean IW, Zimmermann LE, Evans RM. Reappraisal of Callenderʼs spindle a type of malignant melanoma of choroid and ciliary body. Am J Ophthalmol 1978; 86: 557-564
• 34 Gass J. Observations of suspect choroidal and ciliary body melanomas for evidence of growth prior to enucleation. Ophthalmology 1980; 87: 523-528
• 35 Rohrbach JM, Sobottka B. Tumoren der Choroidea. Bilaterale uveale Hyperplasie. In: Rohrbach JM, Lieb WE. Hrsg. Tumoren des Auges und seiner Adnexe, Textbuch und Atlas unter besonderer Berücksichtigung des klinischen und morphologischen Bildes. 1st ed.. Stuttgart: 1998: 136-138
• 36 Shields CL, Mashayekhi A, Ho T. et al. Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients. Ophthalmology 2003; 110: 1968-1976
• 37 Mashayekhi A, Siu S, Shields CL. et al. Slow enlargement of choroidal nevi: a long-term follow-up study. Ophthalmology 2011; 118: 382-388
• 38 Tamler E. A clinical study of choroidal nevi. A follow-up report. Arch Ophthalmol 1970; 84: 29-32
• 39 Tamler E, Maumenee A. A clinical study of choroidal nevi. AMA Arch Ophthalmol 1959; 62: 196-202
• 40 Mims J, Shields J. Follow-up studies of suspicious choroidal nevi. Ophthalmology 1978; 85: 929-943
• 41 Shields JA, Augsburger JJ, Brown GC. et al. The differential diagnosis of posterior uveal melanoma. Ophthalmology 1980; 87: 518-522
• 42 Shields CL, Furuta M, Berman EL. et al. Choroidal nevus transformation into melanoma: analysis of 2514 consecutive cases. Arch Ophthalmol 2009; 127: 981-987
• 43 Shields CL, Shields JA, Kiratli H. et al. Risk factors for growth and metastasis of small choroidal melanocytic tumors. Ophthalmology 1995; 102: 1351-1361
• 44 Chien JL, Sioufi K, Surakiatchanukul T. et al. Choroidal nevus: a review of prevalence, features, genetics, risks, and outcomes. Curr Opin Ophthalmol 2017; 28: 228-237
• 45 Callanan DG, Lewis ML, Byrne SF. et al. Choroidal neovascularization associated with choroidal nevi. Arch Ophthalmol 1993; 11: 789-794
• 46 Shields CL, Mashayekhi A, Materin MA. et al. Optical coherence tomography of choroidal nevus in 120 patients. Retina 2005; 25: 243-252
• 47 Espinoza G, Rosenblatt B, Harbour JW. Optical coherence tomography in the evaluation of retinal changes associated with suspicious choroidal melanocytic tumors. Am J Ophthalmol 2004; 137: 90-95
• 48 Yoshida K. Nevus fuscocaerulus ophthalmomaxillaris Ota. Tohoku J Exp Med 1952; 55: 34-43
• 49 Shields CL, Kaliki S, Rojanaporn D. et al. Enhanced depth imaging optical coherence tomography of small choroidal melanoma: comparison with choroidal nevus. Arch Ophthalmol 2012; 130: 850-856
• 50 Almeida A, Kaliki S, Shields CL. Autofluorescence of intraocular tumours. Curr Opin Ophthalmol 2013; 24: 222-232
• 51 Torres VL, Brugnoni N, Kaiser PK. et al. Optical coherence tomography enhanced depth imaging of choroidal tumors. Am J Ophthalmol 2011; 151: 586-593
• 52 Maloca P, Gyger C, Hasler PW. A pilot study to compartmentalize small melanocytic choroidal tumors and choroidal vessels with speckle-noise free 1050 nm swept source optical coherence tomography (OCT choroidal “tumoropsy”). Graefes Arch Clin Exp Ophthalmol 2016; 254: 1211-1219
• 53 Maloca P, Gyger C, Hasler PW. A pilot study to image the vascular network of small melanocytic choroidal tumors with speckle noise-free 1050-nm swept source optical coherence tomography (OCT choroidal angiography). Graefes Arch Clin Exp Ophthalmol 2016; 254: 1201-1210
• 54 Yannuzzi LA, Ober MD, Slakter JS. et al. Ophthalmic fundus imaging: today and beyond. Am J Ophthalmol 2004; 137: 511-524
• 55 Lavinsky D, Belfort RN, Navajas E. et al. Fundus autofluorescence of choroidal nevus and melanoma. Br J Ophthalmol 2007; 91: 1299-1302
• 56 Materin MA, Raducu R, Bianciotto C. et al. Fundus autofluorescence and optical coherence tomography findings in choroidal melanocytic lesions. Middle East Afr J Ophthalmol 2010; 17: 201-206
• 57 Albertus DL, Schachar IH, Zahid S. et al. Autofluorescence quantification of benign and malignant choroidal nevomelanocytic tumors. JAMA Ophthalmol 2013; 131: 1004-1008
• 58 Reznicek L, Stumpf C, Seidensticker F. et al. Role of wide-field autofluorescence imaging and scanning laser ophthalmoscopy in differentiation of choroidal pigmented lesions. Int J Ophthalmol 2014; 7: 697-703
• 59 Shields CL, Pirondini C, Bianciotto C. et al. Autofluorescence of choroidal nevus in 64 cases. Retina 2008; 28: 1035-1043
• 60 Wollf-Korman P, Korman B, Hazeneratz G. Duplex and color Doppler ultrasound in differential diagnosis of choroidal tumors. Acta Ophthalmol 1992; 204: 66-70
• 61 Singh AD, Medina CA, Singh N. et al. Fine-needle aspiration biopsy of uveal melanoma: outcomes and complications. Br J Ophthalmol 2016; 100: 456-462
• 62 Aaberg jr. TM, Cook RW, Oelschlager K. et al. Current clinical practice: differential management of uveal melanoma in the era of molecular tumor analyses. Clin Ophthalmol 2014; 8: 2449-2460
• 63 Maat W, Jordanova ES, van Zelderen-Bhola SL. et al. The heterogeneous distribution of monosomy 3 in uveal melanomas: implications for prognostication based on fine-needle aspiration biopsies. Arch Pathol Lab Med 2007; 131: 91-96
• 64 Schoenfield L, Pettay J, Tubbs RR. et al. Variation of monosomy 3 status within uveal melanoma. Arch Pathol Lab Med 2009; 133: 1219-1222
• 65 Mensink HW, Vaarwater J, Kilic E. et al. Chromosome 3 intratumor heterogeneity in uveal melanoma. Invest Ophthalmol Vis Sci 2009; 50: 500-504
• 66 Midena E, Bonaldi L, Parrozzani R. et al. In vivo detection of monosomy 3 in eyes with medium-sized uveal melanoma using transscleral fine needle aspiration biopsy. Eur J Ophthalmol 2006; 16: 422-425
• 67 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: 142-146
• 68 Singh AD, Medina CA, Singh N. et al. Fine-needle aspiration biopsy of uveal melanoma: outcomes and complications. Br J Ophthalmol 2016; 100: 456-462
• 69 Onken MD, Worley LA, Harbour JW. Association between gene expression profile, proliferation and metastasis in uveal melanoma. Curr Eye Res 2010; 35: 857-863
• 70 Harbour JW. A prognostic test to predict the risk of metastasis in uveal melanoma based on a 15-gene expression profile. Methods Mol Biol 2014; 1102: 427-440
• 71 Harbour JW, Chen R. The DecisionDx-UM gene expression profile test provides risk stratification and individualized patient care in uveal melanoma. PLoS Curr 2013;
• 72 Pereira PR, Odashiro AN, Lim LA. et al. Current and emerging treatment options for uveal melanoma. Clin Ophthalmol 2013; 7: 1669-1682
• 73 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: 1596-1603
• 74 Augsburger JJ, Corrêa ZM, Augsburger BD. Frequency and implications of discordant gene expression profile class in posterior uveal melanomas sampled by fine needle aspiration biopsy. Am J Ophthalmol 2015; 159: 248-256
• 75 Harbour JW, Onken MD, Roberson ED. et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010; 330: 1410-1413
• 76 Harbour JW, Roberson ED, Anbunathan H. et al. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet 2013; 45: 133-135
• 77 Onken MD, Worley LA, Long MD. et al. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci 2008; 49: 5230-5234
• 78 Van Raamsdonk CD, Bezrookove V, Green G. et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009; 457: 599-602
• 79 Van Raamsdonk CD, Griewank KG, Crosby MB. et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010; 363: 2191-2199
• 80 Decatur CL, Ong E, Garg N. et al. Driver mutations in uveal melanoma: associations with gene expression profile and patient outcomes. JAMA Ophthalmol 2016; 134: 728-733
• 81 Albert D, Robinson N, Fulton A. et al. Epidemiologic investigation of increased incidence of choroidal melanoma in a single population of chemical workers. Int Ophthalmol Clin 1980; 20: 71-92
• 82 Ganley J, Comstock G. Benign nevi and malignant melanomas of the choroid. Am J Ophthalmol 1973; 76: 19-25
• 83 Singh AD, Kalyaniu P, Topham A. Estimating the risk of malignant transformation of a choroidal nevus. Ophthalmology 2005; 112: 1784-1789
• 84 Blum ES, Yang J, Komatsubara KM. et al. Clinical management of uveal and conjunctival melanoma. Oncology (Williston Park) 2016; 30: 29-32 34–43, 48
• 85 Midena E, Parrozzani R. Biopsies in uveal melanoma. Dev Ophthalmol 2012; 49: 81-95
• 86 Eide N, Walaas L. Fine-needle aspiration biopsy and other biopsies in suspected intraocular malignant disease: a review. Acta Ophthalmol 2009; 87: 588-601
• 87 Grixti A, Angi M, Damato BE. et al. Vitreoretinal surgery for complications of choroidal tumor biopsy. Ophthalmology 2014; 121: 2482-2488