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[Thyroid carcinoma metastases in choroid membrane of a 9 year old girl].

Report on a case of a total serous retinal detachment which manifested itself by inflammation and rise in tension. It was associated with an undefinable tumour of the posterior portion of the eye which had become visible after puncture of the subretinal fluid. Fluorescein angiography revealed a pattern similar to Hippel-Lindau's disease, although the clinical course was unusual. Histologic examination of a lump detected on the neck proved to be a metastatic thyroid carcinoma. This diagnosis could be confirmed after enucleation. The literature shows that ocular involvement in metastatic thyroid carcinoma seems to be extremely rare.

Child↗

Thermochemotherapy in hereditary retinoblastoma.

BACKGROUND/AIM: The combination of chemotherapy and transpupillary thermotherapy, thermochemotherapy (TCT) has become an established part of the treatment plan in advanced retinoblastoma. The aim of this study was to identify safe indications, the complications as well as the limitations of this new treatment for retinoblastoma. METHODS: Tumour response and side effects of TCT with an indirect laser ophthalmoscope (spot size about 400 micro m) in 55 tumours of 26 children with bilateral retinoblastoma were analysed. Using the Reese-Ellsworth classification system, nine of 35 eyes were classified as type I, 13 eyes as type II, 10 eyes as type III, and three eyes as type V. The mean age of the children was 0.74 (SD 0.61) years. The mean tumour height was 3.5 (2.3) mm with a mean diameter of 6.1 (4.1) mm. Treatment parameters were 4.3 (1.6) (median 5) thermochemotherapy sessions with a mean energy of 539 (211) mW and a mean duration of 13.5 (5.6) minutes. Chemotherapy courses (vincristine, etoposide, and carboplatin) were repeated every 3 weeks. The mean follow up period was 1.25 (0.6) years. RESULTS: Local recurrence occurred in 21 tumours (38%), with a mean onset of 3.2 (2.9) months after TCT. The risk of tumour recurrence was correlated with tumour height. The recurrence rate was 17% for tumours with a height less than 2 mm, 37% for tumours with a height between 2 and 4 mm, and 63% for larger retinoblastomas. Multivariate analysis identified fish flesh regression after TCT (p = 0.0007) as the most important risk factor for tumour recurrence besides tumour height (p = 0.001) and the necessity of increased laser power during TCT sessions (p = 0.018). Complications during therapy included transient corneal opacification in two eyes (6%), focal iris atrophy (three eyes, 8.5%), peripheral lens opacity (two eyes, 6%), circumscribed transient retinal detachment (one eye, 3%) and diffuse choroidal atrophy (one eye, 3%). CONCLUSION: TCT using an indirect laser ophthalmoscope with a spot size of about 400 micro m was efficient for retinoblastoma with a tumour height less than 4 mm. In larger tumours, the recurrence rate was unacceptably high. Fish flesh regression after TCT correlates with a higher rate of local tumour recurrence. Treatment related complications occurred in less than 9% of the treated eyes.

Antineoplastic Combined Chemotherapy Protocols↗

Echography and histological studies in various eye conditions.

A correlation between A-scan echograms recorded clinically in vivo and histological studies of corresponding sections has been made in 42 eyes with intraocular pathological conditions. This study yielded both new and little known acoustic differential criteria for the diagnosis of retinoschisis, funnel-shaped vitreous detachments, serous as well as hemorrhagic retinal and choroidal detachments, intravitreal hemorrhages, and intraocular tumors.

Choroid Neoplasms↗

High-grade malignant B-cell lymphoma of the retina in a patient with concomitant gastric MALT lymphoma.

PURPOSE: To report the unexpected finding of a primary retinal B-cell lymphoma in a patient with previous breast carcinoma and subsequent lymphoma of the stomach. METHODS: Histopathologic and immunohistochemical findings in the enucleated eye are described in conjunction with clinical features and investigations. RESULTS: An 80-year-old woman with previous breast cancer presented with moderate loss of vision associated with vitreous opacities, circumpapillary retinal haemorrhages, and attenuated retinal vessels in her left eye. Treatment with systemic steroids and oral immunosuppressive drugs was initiated on suspicion of carcinoma-associated retinopathy. Two years later, the patient was diagnosed with MALT lymphoma of the stomach. Unfortunately, the ocular symptoms did not improve, and the patient developed neovascular glaucoma, for which the eye was eventually enucleated. Histopathology and immunohistochemistry as well as a molecular analysis revealed a primary B-cell lymphoma of the retina. CONCLUSION: Non-Hodgkin B-cell lymphoma of the retina should be considered as a differential diagnosis in cases of non-specific retinopathies even in the presence of other primary neoplastic co-morbidities.

Aged, 80 and over↗

von Hippel-Lindau disease: genetic, clinical, and imaging features.

von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that causes retinal hemangioblastomas, hemangioblastomas of the central nervous system, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas, among other less common manifestations. Although this entity has been recognized for almost 70 years, recent developments in the genetics and imaging of VHL disease have greatly improved understanding of the disease and its natural history. This review describes the major events that led to the discovery of the gene for VHL and will familiarize the reader with recent developments in the magnetic resonance Imaging, computed tomographic, and ultrasound findings of this entity. Despite advances in the genetic understanding of this disease, imaging techniques will continue to play a major role in the diagnosis, management, and treatment of VHL.

Adenoma, Islet Cell↗

Retinoinvasive malignant melanoma of the uvea.

AIMS: To define a retinoinvasive phenotype of uveal melanoma based on an informative case and survey of literature. METHODS: A 65-year-old woman developed a circumscribed mixed cell type melanoma of the ciliary body that was locally excised. After 6 years, secondary glaucoma evolved. Three years later a ring melanoma was diagnosed and the eye was enucleated. The histopathological material was analysed by immunohistochemistry. RESULTS: A spindle cell type ring melanoma infiltrated the iris and ciliary body diffusely, and extended through the aqueous outflow channels and iridocyclectomy flap extrasclerally. The choroid was uninvolved. Instead, tumour cells spread to the vitreous and along the ciliary epithelium, adhered to the hyaloid face and retinal surface, and extensively invaded the neuroretina, the retrobulbar optic nerve, and perineural space. They were labelled for S-100 protein, vimentin, and in the neuroretina for cytokeratins 8 and 18. No evidence of systemic disease is evident 5 years after enucleation. Three identical tumours of the iris and ciliary body that extensively infiltrated the neuroretina and retrobulbar optic nerve were identified from previous literature. CONCLUSION: Retinoinvasive melanoma is a rare but distinct phenotype of uveal melanoma, different from circumscribed and most diffuse melanomas that may erode the overlying retina and infiltrate the optic nerve that do not invade non-adjacent retina. Retinoinvasive tumours tend to evolve from a ring melanoma and they grow slowly, which may favour emergence of tumour clones able to migrate, adhere to, and invade into the neuroretina, analogous to the metastatic cascade. Frequent secondary angle closure glaucoma may promote invasion into the optic nerve.

Aged↗

[Analysis of spinal cord hemangioblastoma in von Hippel-Lindau disease].

Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder showing various clinical features. We analyzed 6 patients with spinal cord hemangioblastoma associated with VHL disease in four families. All patients had cerebellar hemangioblastomas. Four cases carried retinal hemangioblastoma and 5 cases showed visceral lesions; renal cell carcinoma (2 cases), renal cyst (2 cases), pancreas cyst (2 cases) and paraovarian tumor. In four cases, spinal cord hemangioblastomas were multiple. Ten symptomatic or rapidly growing lesions in 5 patients were surgically resected. Two of these lesions were extramedullary spinal root hemangioblastoma. Operative results were good except for a case of ventrally placed thoracic spinal intramedullary hemangioblastoma who showed paraparesis postoperatively. One patient who suffered from complete paraplegia preoperatively did not recover after surgery. In two patients, renal cell carcinoma was detected and nephrectomy was undergone. It was noteworthy that metastasis of renal cell carcinoma to the hemangioblastoma was histologically proved with anti-cytokeratin immunostaining in two patients with VHL-associated renal cell carcinoma. Molecular genetic analysis showed a missence mutation in one family and possible intragenic deletion in another family. However, two families showed no VHL gene mutation with single strand conformational polymorphism or Southern blot analyses. Spinal cord hemangioblastomas in VHL disease are often multiple and located at various sites and seem to be underestimated. Surveillance should start in childhood and requires annual follow-up with imaging of the central nervous system and abdominal viscera. Presymptomatic diagnosis by gene analysis can be very useful for early detection of this disease.

Adolescent↗

Presumed metastatic transitional cell carcinoma of the choroids.

Ocular metastases from urinary tract carcinoma are extremely rare. Three previous cases of choroidal metastases from transitional cell carcinoma from the urinary bladder have been described, as have 2 cases of orbital metastases from bladder carcinoma. This is believed to be the first reported case of choroidal metastasis from transitional cell carcinoma of the renal pelvis in a 50-year-old female patient. The tumour, despite the absence of extension beyond the pelvic wall, showed disseminated metastases that proved resistant to chemotherapy. The fluorescein angiographic and ultrasonographic findings are described and the literature is briefly reviewed.

Carcinoma, Transitional Cell↗

[Familial multiple hemangioblastomas--report of two cases in a family (author's transl)].

The authors reported their experience with two cases in a kindred with multiple hemangioblastomas in the cerebellum, brain stem, and spinal cord associated with von Hippel's disease, von Recklinghausen's disease and some visceral changes. (The members of this kindred died of similar disease.) Two patients, a 42-year-old man and his 14-year-old niece, showed various neurological signs involving central nervous system. Furthermore the man had some café-au-lait spots in the skin, a papillomatous tumors in the tongue and a vascular tumor in the right kidney. Both also had von Hippel's disease. Neuroradiological study and operations demonstrated multiple hemangioblastomas in the cerebellum, medulla oblongata and the spinal cord in association with abnormal enlargements of the medulla and the spinal cord which suggested coexistence of the parenchymatous tumor, probably glioma, in them. All hemangioblastomas in the cerebellum of both patients were removed. The literature of the familial multiple hemangioblastomas was reviewed and the coexistence of Lindau's disease, von Recklinghausen's disease and glioma was discussed.

Adolescent↗

[Small cell lung cancer and cancer-associated retinopathy].

We report the case of a patient who presented with cancer-associated retinopathy and small cell carcinoma of the lung, which was treated surgically because the initial diagnostic biopsy finding was squamous cell carcinoma. The patient then underwent chemotherapy and radiation therapy. We discuss the characteristics and pathogenesis of this paraneoplastic syndrome as well as its association with the lung tumor's aberrant production of a protein that competes with retinal recoverin at the photoreceptors of the retinal cone.

Aged↗