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Answer to Photo Quiz: A young man with vision loss: keep your eyes open for a rare cause



PHOTO QUIZ
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DIAGNOSIS

Fundoscopy and radiological findings showed a large yellow subretinal tumour with haemorrhage, subretinal fluid accumulation and retinal detachment. The differential diagnosis included a choroidal metastasis and a primary metastatic choroidal melanoma. Choroidal metastases are the most common form of uveal metastases and on fundoscopy they are usually yellow in colour and associated with subretinal fluid.1 On a B-scan ultrasonography, choroidal metastases typically have an irregular contour with a medium-to-high reflectivity, while choroidal melanomas have a smooth, dome shape with low-to-medium reflectivity. Therefore a choroidal metastasis was more probable than a choroidal melanoma. Besides choroidal melanomas with pulmonary metastases without liver metastases are highly unusual. 

A cytological biopsy of the subcutaneous mass on his back showed a metastatic choriocarcinoma. Additional laboratory testing revealed an α-fetoprotein of 210 µg/l (reference range < 10 µg/l) and a beta-human chorionic gonadotropin of 3900 ng/ml (reference range < 1 ng/ ml). The diagnosis stage IVB nonseminomatous germ cell tumour (poor risk) was made. We started first-line chemotherapy (etoposide, cisplatin and bleomycin), followed by an orchidectomy. Pathology showed a necrotic tumour with mature teratoma as the only vital part. Metastatic cancer is believed to be the most common form of intraocular malignancy in adults. The proportion of patients with intraocular metastasis among 716 unselected patients with cancer at the time of death was estimated to be 4%.2 Symptoms can be (sub)acute vision loss, scotoma, pain, swelling and redness of the eye. Breast cancer is the most common primary tumour, followed by lung cancer and gastrointestinal cancer.1,2 Choriocarcinoma, however, is a rare cause of choroidal metastases. Unlike other metastatic ocular disease, significant haemorrhage is associated with choriocarcinoma metastases. This may be correlated with upregulation of vascular endothelial growth factor.3

Prognosis and treatment of choriocarcinoma patients with choroidal metastases are not clear, while most literature is from before the introduction of platinum-based chemotherapy and only consists of case reports.3 The treatment spectrum in these case reports covers chemotherapy only, chemotherapy in combination with whole brain radiotherapy (WBRT), or chemotherapy in combination with WBRT and (stereotactic) radiotherapy of the eye.4 Metastatic choriocarcinoma should be considered in patients with choroidal tumours, especially in case of significant haemorrhage of the tumour and a young age at presentation. Therefore, testicular examination should not be forgotten in these cases.

 

CONSENT

Written informed consent was obtained from the patient for publication of this Case Report. A copy of the written consent is available for review by the Editor of this journal.

 

ACKNOWLEDGEMENTS

The authors would like to extend their gratitude to Ann-Laure Delbecq and Dorus Kouwenberg. None of the authors have a conflict of interest to declare.

 

REFERENCES

  1. Shields CL, Shields JA, Gross NE, Schwartz GP, Lally SE. Survey of 520 eyes with uveal metastases. Ophthalmology. 1997;104:1265-76.. 
  2. Nakajima H, Oki M, Matsukura S, Nakamura M, Tokunaga M, Ando K. Germ cell tumors. Case 1. Intraocular metastases from testicular cancer. J Clin Oncol. 2004;22:1753-5. 
  3. Kavanagh MC, Pakala SR, Hollander DA, O’Brien JM. Choriocarcinoma metastatic to the choroid. Br J Ophthalmol. 2006;90:650-2. 
  4. Guber I, Zografos L, Schalenbourg A. Choroidal metastases in testicular choriocarcinoma, successful treatment with chemo- and radiotherapy: a case report. BMC Urology. 2011;11:24.