Cryo- and photocoagulation for choroidal metastases of a thyroid carcinoma (author's transl)

A 47-year-old patient underwent surgery in 1972 for a metastasising medullary thyroid carcinoma. 4 years later he developed choroidal metastases in the left eye and then, after another 3 months, multiple small metastases appeared in the right eye. The metastases were cryo- and photocoagulated because medullary thyroid carcinoma do not respond to radiation or chemotherapy. Although the single very large metastasis in the left eye was scarcely affected, the multiple metastases in the right eye were destroyed. As a result the patient has retained useful vision in this eye for the past three years.     

Late choroidal metastasis secondary to papillary thyroid carcinoma.

PURPOSE: To report a case of late choroidal metastasis from papillary thyroid carcinoma. METHODS: Interventional case report. A 43-year-old woman who had been treated for papillary thyroid carcinoma 30 years earlier presented for evaluation of vision loss in the left eye. Eight weeks before this presentation, an ophthalmologist had diagnosed a metastatic uveal mass in the left eye of the patient. The clinical record was retrospectively reviewed. Ocular sonography was performed to confirm the diagnosis of choroidal metastasis. RESULTS: The choroidal mass had the typical characteristics of a metastatic lesion. The patient was treated with a combination of brachytherapy and chemotherapy. CONCLUSION: Papillary thyroid carcinoma can metastasize to the choroid many years after the initial diagnosis.     

Spontaneous regression of choroidal metastasis from renal cell carcinoma

PURPOSE: To describe a patient with choroidal metastasis from renal cell carcinoma that spontaneously regressed after nephrectomy. DESIGN: Interventional case report. METHOD: A 48-year-old Hispanic woman presented with reduced vision in the left eye attributable to an elevated choroidal lesion and associated exudative retinal detachment. Oncology workup revealed a left kidney renal cell carcinoma with pulmonary metastases. The patient underwent primary nephrectomy, without specific treatment of choroidal or pulmonary metastases. RESULTS: The metastatic choroidal lesion regressed and the retinal detachment completely resolved, as evidenced by fundus photographs and ultrasonography. CONCLUSIONS: Choroidal metastasis from renal cell carcinoma may spontaneously regress after removal of the primary tumor.     

Lidkanten- und Lippentumoren ohne MEN2b-Syndrom bei einem 29-jährigen Mann

Neuromas of the eyelid margin and lower lip were diagnosed in a 29-year-old man. As the combination of these lesions is indicative of multiple endocrine neoplasia type 2b (MEN2b) syndrome, the presence of a medullary thyroid carcinoma or a pheochromocytoma were excluded by a systematic work-up. A mutation in the RET proto-oncogene was not found by genetic testing. In summary, the patient presented with neuromas on the eyelid margin and lower lip without an association to a syndrome; however, patients with such neuromas should be screened for MEN2b syndrome due to the high mortality.     

Multiple endocrine neoplasia type two B. A case report with light and electron microscopic and immunohistochemical correlation

PURPOSE: To describe a case of multiple endocrine neoplasia type two B (MEN IIB) where ocular and systemic clinicopathological findings are correlated, in association with light and electron microscopic and immunohistochemical findings. METHODS: A 23-year-old man presented with mucosal neuromas of the lips, tongue and eyelids, a Marfanoid habitus and prominent corneal nerves. These findings led to the diagnosis of multiple endocrine neoplasia type two B. The patient subsequently developed phaeochromocytoma and metastatic medullary thyroid carcinoma (MTC) which led to his demise. Correlation of light and electron microscopic and immunohistochemical findings with the systemic and ocular findings is presented to emphasise the aggressiveness of MTC in MEN IIB. Clinicopathological correlation was obtained by examining the eyes post mortem. RESULTS AND CONCLUSIONS: Three new findings in MEN IIB have been established by this study. The enlarged corneal nerves can now be regarded as ganglioneuromas. Medullary thyroid carcinoma metastases were found in the choroid. Light and electron microscopic examination of the eye showed ganglioneuromas of the nerves in the limbus, trabecular meshwork, uveal tract and posterior ciliary nerves; this finding may account for the glaucoma occasionally seen in patients with MEN IIB.     

Conjunctival nerve pathology in multiple endocrine neoplasia. A case report

A 31-year-old male with typical clinical features of multiple endocrine neoplasia type 2b (MEN 2b) was subjected to conjunctival biopsy. The patient had previously been operated for pheochromocytoma and medullary carcinoma of the thyroid. He came for ophthalmologic consultation because of redness and irritation of the eye due to dry eye syndrome. The conjunctival biopsy taken from his left eye revealed not only an increase in the number of conjunctival nerves but also an increase of their axons. The ultrastructure of the nerves was mostly normal, but the perineurium was often incomplete, and the interaxonal space appeared to be enlarged. Immunohistochemically, SP-, neurofilament- and, unexpectedly, leucine-enkephalin-positive nerve fibres were demonstrated in the conjunctival stroma. The rat is the only species in which enkephalin-like immunoreactivity has been described in the anterior segment of the eye. Thus, the presence of enkephalin-positive nerves in the conjunctiva of our MEN 2b patient may reflect a profound neural alteration.     

甲状腺髓样癌转移至虹膜角膜角1例

目的:报告甲状腺髓样癌在虹膜角膜角转移的病例1例。方法:患者,女,28岁,患有单一的甲状腺髓样癌伴左眼虹膜角膜角包块。随后几个月对其视网膜的随访显示其视网膜也有一些浸润病灶。结果:用激光照射姑息切除脉络膜及房角病灶后,没有发现有复发迹象和任何新病灶出现。结论:据我们所知,这是文献中第一次报告甲状腺髓样癌在虹膜角膜角的转移。     

Multiple endocrine neoplasia type two B A case report with light and electron microscopic and immunohistochemical correlation

Purpose: To describe a case of multiple endocrine neoplasia type two B (MEN IIB) where ocular and systemic clinicopathological findings are correlated, in association with light and electron microscopic and immunohistochemical findings.
Methods: A 23-year-old man presented with mucosal neuromas of the lips, tongue and eyelids, a Marfanoid habitus and prominent corneal nerves. These findings led to the diagnosis of multiple endocrine neoplasia type two B. The patient subsequently developed phaeochromocytoma and metastatic medullary thyroid carcinoma (MTC) which led to his demise. Correlation of light and electron microscopic and immunohistochemical findings with the systemic and ocular findings is presented to emphasise the aggressiveness of MTC in MEN IIB. Clinicopathological correlation was obtained by examining the eyes post mortem.
Results and conclusions: Three new findings in MEN IIB have been established by this study. The enlarged corneal nerves can now be regarded as ganglioneuromas. Medullary thyroid carcinoma metastases were found in the choroid. Light and electron microscopic examination of the eye showed ganglioneuromas of the nerves in the limbus, trabecular meshwork, uveal tract and posterior ciliary nerves; this finding may account for the glaucoma occasionally seen in patients with MEN IIB.     

Conjunctival neuromas and prominent corneal nerve fibers as diagnostic indication of multiple endocrine disease

BACKGROUND: Multiple endocrine neoplasias (MEN-syndromes) represent diverse, mostly autosomal-dominant inherited, seldom sporadic diseases. MEN 2B-syndrome comprises medullary thyroid carcinoma, pheochromocytoma and mucosal neuromas. PATIENT: A 30 year old male patient presented with bilateral chronic irritation of the ocular surface. The biomicroscopy revealed intraconjunctival worm-like alterations, prominent corneal nerves and nodules on the upper lid margins. HISTOLOGY: The performed conjunctival biopsy showed nearly no goblet cells, but prominent intrastromal, immunohistochemical S100-positive neuromas. RESULTS: The initiated investigations revealed bilateral multifocal medullary thyroid carcinoma and a left sited pheochromocytoma. CONCLUSION: Conjunctival neuromas and prominent corneal nerves can be diagnostic for the MEN 2B-syndrom. Early diagnosis and prophylactic thyroidectomy are expected to improve the life expectancy even in asymptomatic gene-carriers.     

Presumed eccrine carcinoma metastatic to the choroid

The purpose of this article is to describe a patient with presumed choroidal metastasis from an eccrine adenocarcinoma of the scalp. A 45-year-old Caucasian woman presented with decreased visual acuity. Ophthalmologic examination was unremarkable. Her past medical history was significant for eccrine carcinoma of the scalp. The patient developed bilateral cervical lymph node metastases, and received chemotherapy and radiotherapy. She had recurrence of the scalp lesion and developed bone metastasis. The patient was again referred to an ophthalmologist owing to reduced visual acuity. Multiple choroidal metastases were detected in right eye, and one metastatic lesion in left eye. The patient passed away 2 months after choroidal metastases. This is the first report of choroidal metastases from an eccrine carcinoma. This is a rare aggressive neoplasm with poor outcome in most cases of metastatic disease, and in this case report, uveal metastasis was indicative of poor prognosis.     

Metastasis of medullar thyroid carcinoma (case report)

We report the case of a 38 year-old man treated for medullar thyroid carcinoma in 1990. Nine years later, this patient developed metastases in the parotid, cervical nodes and bones, with a choroidal metastasis in the left eye one year later. Polychemotherapy was performed without good outcome.     

Multiple endocrine neoplasia type III.

The multiple endocrine neoplasia (MEN) syndromes are autosomally dominant inherited disorders in which hyperplastic or neoplastic changes occur in a wide variety of tissues. The specific syndromes are classified according to the endocrine glands affected. MEN type I consists of an aggregation of tumors of parathyroid, pancreatic, and pituitary glands. The association of medullary carcinoma of the thyroid (MCT) and pheochromocytoma is called MEN type II or type IIA, and if combined with mucosal neuromas, intestinal ganglioneuromatosis, and prominent corneal nerves, is named MEN type III or type IIB. Individuals afflicted with MEN type III are characterized by a marfanoid habitus, mucosal neuromas involving oral and ocular tissues, and a number of ophthalmologic findings including prominent corneal nerves, thickened eyelids, and subconjunctival neuromas. These features are easily recognized during the ocular exam, allowing the ophthalmologist to make an early diagnosis of this syndrome prior to the onset of life-threatening manifestations like medullary thyroid carcinoma and pheochromocytoma.     

External ophthalmic findings in multiple endocrine neoplasia type 2B

PURPOSE: To identify external ophthalmic abnormalities in multiple endocrine neoplasia type 2B (MEN2B), which may facilitate early detection and prophylactic thyroidectomy to prevent medullary thyroid carcinoma. METHODS: Three patients with MEN2B were examined by an oculoplastic surgeon and external ophthalmic findings were recorded. RESULTS: All patients had prominent corneal nerves, thickened eyelids, mild ptosis and eversion of the upper eyelids. Two patients displayed eyelid nodules and one exhibited lower lid margin eversion. CONCLUSION: Ptosis and lower lid margin eversion are previously unreported findings in patients with MEN2B. Medullary thyroid carcinoma is the most serious consequence of MEN2B and has a high mortality if untreated. Early diagnosis and prophylactic thyroidectomy may be lifesaving. Gene mutations can be identified but the sporadic tendency of the syndrome emphasizes the importance of early clinical detection. MEN2B is one of a number of systemic malignancies with ophthalmic manifestations. Ophthalmologists should be aware of the external features of this rare but lethal malignancy.     

Systemic chemotherapy and tamoxifen induced regression of choroidal metastasis from a breast carcinoma in a male

We report a case of a 55-year-old male patient with breast carcinoma, who developed choroidal metastasis. The patient had undergone mastectomy for carcinoma of right breast, five years ago. The patient was advised close follow-up for the left eye, as he was already on tamoxifen therapy (started a month ago) for spinal metastasis. On last follow-up, a year later, the choroidal lesion had completely scarred, with no recurrences. Systemic hormonal therapy like tamoxifen given for the breast primary and other systemic metastases may cause regression of the choroidal metastasis, thereby avoiding ocular radiotherapy. Medline search revealed only one published case of regression of choroidal metastasis from a male breast primary, on tamoxifen therapy.     

Red lesions of the iris, choroid, and skin secondary to metastatic carcinoma of the thyroid: a review

An 83-year-old man was seen with a history of bilateral progressive loss of vision of 1 month's duration. On examination, there was a reddish, nodular lesion adjacent to the right side of the nose. Slit-lamp examination revealed a reddish iris mass in the left eye. Ophthalmoscopic examination revealed two orange choroidal lesions in the right eye and a large subretinal hemorrhage in the posterior pole with a central reddish vascular lesion in the left eye. An excisional biopsy of the skin lesion was performed. A diagnosis of metastatic follicular thyroid carcinoma was made according to the histopathologic findings and immunohistochemistry. The patient had no known history of thyroid malignancy and a metastatic survey revealed widespread metastasis. The patient had a total thyroidectomy followed by two series of radioactive iodine ablation. The iris lesion completely resolved and the choroidal lesions in the right eye showed partial regression during the follow-up period. Ocular and skin metastasis secondary to thyroid carcinoma is uncommon. In a review of English literature we found reports of 12 clinically well-documented cases of choroidal metastasis and two cases of iris metastasis. Our case and review of the previous cases reveal that reddish/orange color is a commonly observed feature of the uveal metastasis of thyroid carcinoma. Although ocular and skin metastases from thyroid carcinoma are rare, this possibility should be considered in the differential diagnosis of reddish-colored iris and choroidal masses as well as reddish nodular lesions of the scalp, face, and neck.     

Electron microscopic demonstration of hormone-producing metastatic carcinoma of the choroid from the bronchus.

Clinical, laboratory and pathological findings of a patient in bronchial carcinoma with choroidal metastasis were presented. X-ray examination of the chest suggested the tumor shadow in the posterior segmental bronchus of the right upper lobe of the lung (r-B2b), while funduscopy and fluorescein angiography revealed the presence of choroidal tumor. ACTH levels in tumor tissues at autopsy and in serum were measured and definitely demonstrated and elevated. Histopathologically, the primary lesion was r-B2b and diagnosed as a mucocellular type of adenocarcinoma. The choroidal lesion was metastatic carcinoma. Electron microscopic examination of the choroidal lesion reembedded for electron microscopy from celloidin-embedded materials for light microscopy could reveal the presence of characteristic cytoplasmic granules referred to as neurosecretory-type granules. It is extremely rare that a hormone-producing metastatic carcinoma of the choroid from the bronchus has been proved.     

Multiple mucosal neuroma (MMN) or multiple endocrine neoplasia (MEN) type 3 syndrome

Case report of a young man showing neuromas of the palpebral and bulbar conjunctiva and markedly thickened nerve fibers in both cornea. Multiple neuromas were seen on the lips and in the oral cavity. A medullary carcinoma of the thyroid was found. These symptoms pointed to the diagnosis of a MMN or MEN type 3 syndrome. There were no signs of a phaeochromocytoma, however, which also belongs to this syndrome.The ophthalmologist, who may be the first to see such a patient as a child, should be aware of the malignancies which develop around puberty and of the strong and dominant heredity of this disease.     

Papillary carcinoma thyroid presenting as a choroidal metastasis. Report of a case and brief review of literature

A patient of papillary thyroid carcinoma, who initially presented with a choroidal metastasis and secondary intractable glaucoma is reported. The orange-coloured tumour posed a diagnostic difficulty, until histopathology of the enucleated eye confirmed the metastasis from the thyroid. The initial presentation of distant metastasis in patients with thyroid cancer is rare.     

From eyelid bumps to thyroid lumps: report of a MEN type IIb family and review of the literature

PURPOSE: We present a two-generation family with multiple endocrine neoplasia (MEN) type IIb diagnosed by their ophthalmologists based on characteristic ophthalmic findings. METHODS: A family consisting of a 33-year-old female proband and her 8- and 7-year-old children had prominent corneal nerves; eyelid, lip, and tongue nodules; and a characteristic facies. A polymerase chain reaction-based genetic assay was obtained to detect the genetic mutation most commonly associated with MEN type IIb. Serum calcitonin and urine catecholamine studies were obtained. RESULTS: Molecular genetic studies detected in all 3 patients a mutation at codon 918 of the RET proto-oncogene known to be present in 95% of the cases of MEN type IIb. Serum calcitonin was elevated in the proband and her son. Urine catecholamine levels were elevated in the proband. Surgical treatment and histologic analysis confirmed pheochromocytoma and medullary thyroid carcinoma (MTC) in the proband. Surgical exploration revealed the MTC to be metastatic to the liver. CONCLUSIONS: This family demonstrates the characteristic findings of MEN type IIb: prominent corneal nerves in a clear stroma and multiple submucosal neuromas of the conjunctiva, eyelids, lips, and tongue. Ophthalmologists have a critical role to play in recognizing these signs, because the early diagnosis of medullary thyroid carcinoma and pheochromocytoma may be life saving.     

Simultaneous eyelid and choroidal metastases 36 years after diagnosis of medullary thyroid carcinoma

A 56-year-old man had a 6-month history of a progressively enlarging mass of his right upper eyelid. Thirty-six years previously he had undergone thyroidectomy for medullary thyroid carcinoma in the absence of family history. Supraclavicular lymph node metastases were discovered 3 years after initial diagnosis, pulmonary metastasis 26 years later, and cervical lymph node metastases 35 years later. Ocular examination revealed a pedunculated, amelanotic, highly vascularized metastasis involving the right upper eyelid and palpebral conjunctiva. Ophthalmoscopy revealed 2 amelanotic, dome-shaped choroidal metastases in the right eye and 3 similar tumors in the left eye. Medullary thyroid carcinoma not associated with the multiple endocrine neoplasia syndromes can metastasize to the ocular region and metastases can occur decades after the original diagnosis.