Congenital uveal melanoma?

A 3-month-old infant with a white mother and Asian father presented with discoloration and prominence of the left eye since birth. Examination revealed a normal right eye. The left eye had hyperchromic heterochromia and an enlarged cornea (diameter, 13.0 mm) with intraocular pressure of 26 mm Hg. There were multiple areas of subconjunctival nodular pigmentation that extended posteriorly into the superior fornix. Fundus examination showed a large ciliochoroidal pigmented mass extending from 10:30 to 3:00 o'clock position involving the superior half of the choroid and adjacent ciliary body. The eye was enucleated, confirming the diagnosis of diffuse uveal melanoma with extraocular extension. Systemic surveillance (hepatic panel and ultrasonography of the liver) performed every 6 months for 5 years was has been negative for metastases. The tumor was investigated intensively for the panel of genes (BAP1, BRAF, NRAS12, NRAS61, GNAQ, Kit 9,11,13,17,18) implicated in pathogenesis of blue nevus, cutaneous melanoma, and mucosal melanomas with negative results. Moreover, germline BAP1 mutation could not be identified. This case possibly represents as yet unidentified uveal melanocytic proliferation rather than a true variant of uveal melanoma.

Congenital uveal malignant melanoma: a case report.

CASE REPORT: We present a case of congenital choroidal mass in a male infant with multiple cutaneous pigmented lesions. Enucleation performed in the first weeks of life confirmed the diagnosis of diffuse uveal malignant melanoma with extraocular extension. The patient was also treated with 5 cycles of chemotherapy. He subsequently developed cutaneous and ocular pigmented lesions, including 2 choroidal nevi located within the posterior pole and a benign conjunctival lesion in the opposite eye, in addition to malignant melanoma of the skin. COMMENTS: At 10 years follow-up, the child is clinically well with no evidence of further malignancy. We believe this represents the fourth case ever reported in the literature and the longest follow-up of a congenital malignant melanoma originating within the eye.

Congenital adenoma of the iris and ciliary body: light and electron microscopic observations.

A 23-year-old man had a lesion in the right inferior iris which appeared to have enlarged since it was first seen when the patient was aged 5 years. The lesion was excised by a partial iridocyclectomy. Histopathologically the neoplasm was composed of both pigmented and non-pigmented cells. Pseudoacini, containing acid mucopolysaccharides, were present throughout the tumour matrix. Electron microscopically the non-pigmented cells were found to possess a convoluted plasmalemma, abundant rough endoplasmic reticulum, and numerous desmosomes and gap junctions. The pigmented cells contained large, round, mature melanosomes, occasional premelanosomes, and desmosomes, which resembled the posterior pigment epithelium of the iris. The intercellular matrix contained fine collagen fibrils resembling vitreous. We believe that this neoplasm represents a congenital adenoma of the ciliary body and iris.

[Medulloepithelioma of the ciliary body. A case report]. / Le médullo-épithéliome du corps ciliaire. A propos d'un cas.

Medulloepithelioma of the ciliary body is an uncommon intraocular tumor occurring during the first year of life. Malignant degeneration may occur. We report the case of a 4-year-old child who presented medulloepithelioma of the left eye disclosed by oesotropia at 2 years of age. Clinically, there was oesotropia, positive light perception and cataract with vascular membrane spreading to the nasal side of the irido-corneal angle. CT scan and ultrasound B revealed a ciliary body tumor involving the sclera and orbital fat. After exenteration, the pathology study reported malignant medulloepithelioma of the ciliary body with scleral extension. No local recurrence or metastasis has been observed at 8 months follow-up. We discuss the clinical, radiological and therapeutic features of this uncommon tumor.

Congenital uveal malignant melanoma.

We report the clinical and pathological findings of a rare case of congenital uveal melanoma. A 7-week-old girl presented with history of a black area at the inner corner of her left eye since birth. Examination revealed an enlarged globe with an area of visible uveal pigment nasal to the cornea, an iris mass, and shallow anterior chamber in the left eye. Magnetic resonance imaging revealed an intraocular mass. Enucleation was performed when the girl was 2 months of age. Pathologic examination confirmed a malignant melanoma epithelioid cell type with extraocular extension. She was treated with chemotherapy and subtotal exenteration.

Extensive malignant melanoma of the uvea in childhood: resection and immediate reconstruction with microsurgical and craniofacial techniques.

Malignant melanoma is a rare tumor in the pediatric age group. Those that have been reported generally describe cutaneous lesions. In children, malignant melanoma arising in the eye is exceedingly rare. The child we report was born with a uveal tract malignant melanoma with extensive extraocular invasion that was successfully managed with combined craniofacial and microsurgical techniques. This patient demonstrates the difficulty of making the correct diagnosis, the initial reluctance about surgical intervention in a newborn's condition, and the subsequent success possible with standard microsurgical and craniofacial techniques.

Congenital neoplasms of the nonpigmented ciliary epithelium (medulloepithelioma).

BACKGROUND: Most reports on intraocular medulloepithelioma have been single case descriptions. The authors reviewed ten patients with intraocular medulloepithelioma, discuss some little known clinical features of this entity, and make diagnostic and therapeutic recommendations. PATIENTS AND METHODS: The records of the authors' patients with histopathologically confirmed medulloepithelioma were reviewed, and the clinical features, diagnostic problems, management, histopathology, and prognosis were assessed. RESULTS: Of the ten patients, nine were children, ranging in age from 2 months to 10 years, and one patient was 58 years of age at the time of clinical presentation. In seven patients, there was a delay in diagnosis, ranging from 3 to 28 months, and four patients underwent surgery for cataract, glaucoma, or other secondary conditions while the tumor was unsuspected. All patients had a nonpigmented ciliary body mass and a notched or subluxated lens, and six had neovascular glaucoma and evident cysts in the mass. The authors' initial management was enucleation in four patients and local resection in six. Of the six patients managed by local resection, five eventually required enucleation, four because of local tumor recurrence and one because of ocular inflammation and discomfort. Pathologically, nine tumors were classified as malignant (5 teratoid, 4 nonteratoid) and one as benign. In one patient (the adult), metastasis to the parotid gland developed. CONCLUSION: Intraocular medulloepithelioma generally occurs in the first decade of life as a nonpigmented ciliary body mass. It has a tendency to cause secondary neovascular glaucoma, a characteristic lens notch and subluxation, and a neoplastic cyclitic membrane. Enucleation is the best treatment for advanced cases. For smaller circumscribed lesions, local resection may be attempted, but such treatment is followed frequently by local recurrence. Although most medulloepitheliomas are cytologically malignant, distant metastasis is uncommon.

Hamartomatous adenoma of the nonpigmented ciliary epithelium arising in iris-ciliary body coloboma. Light and electron microscopic observations.

A 2 1/2-year-old boy had a slowly enlarging mass at the site of a typical iris-ciliary body coloboma for 2 years. The mass was excised partially by iridocyclectomy. By light microscopy, the tumor cells were embedded in a rich mucoid stroma that contained abundant hyaluronidase-sensitive acid mucopolysaccharides. By electron microscopy the tumor showed light and dark cells with interdigitating cell membranes, desmosomes, gap junctions, multilaminar basement membrane, and numerous extracellular collagen fibrils that resembled vitreous fibrils. We believe that the tumor represents a hamartomatous (congenital) adenoma of the nonpigmented ciliary epithelium rather than a conventional (acquired) adenoma, since it developed precisely within a colobomatous defect of the iris and ciliary body.