Urinary levels of TGF ß-1 and of cytokines in patients with prenatally detected nephrouropathies.

This study aimed to identify noninvasive biomarkers of clinically significant nephrouropathies in patients with antenatal renal and/or urinary tract alterations. Spot-urine levels of interleukin-6 (IL-6), transforming growth factor-ß1 (TGF-ß1) and tumor necrosis factor-α (TNF-α) were measured in 100 patients with antenatal detected nephrouropathies. Patients were divided in idiopathic hydronephrosis (n = 47), urinary tract malformations (n = 35), and dysplastic kidneys (n = 18). Urinary concentrations of TGF-ß1, IL-6, and TNF-α were compared between groups according to clinical and image findings. Receiver-operating characteristic (ROC) curves were analyzed for the overall diagnostic accuracy of TGF-ß1, IL-6, and TNF-α levels in discriminating infants with nephrouropathies. No significant differences in urinary TGF- ß1, IL-6, and TNF-α levels were found in the comparison between the groups. TGF-ß1 levels tended to be higher in patients with renal hypodysplasia compared to idiopathic hydronephrosis (p = 0.07). Twenty-nine patients had reduced DMSA uptake. In these cases, absolute urinary concentration of TGF-ß1 and levels standardized for creatinine were significantly higher than in patients with normal DMSA uptake, while IL6 and TNF-α did not differ between groups. Urinary cytokine measurements were not useful as a screening test for clinically significant nephrouropathies. Conversely, increased concentrations of TGF-ß1 pointed out to renal damage as indicated by reduced DMSA uptake.

Extranodal Rosai-Dorfman Disease presenting as an epibulbar tumor.

PURPOSE: To describe a case of an epibulbar tumor as a manifestation of Rosai-Dorfman Disease (RDD) and review the pertinent literature. METHODS: This was an interventional case report and literature review. A 19-year-old African-Brazilian man was referred for evaluation of a 12 x 11-mm subconjunctival mass at the temporal limbus OD. Intraocular pressure was normal, and funduscopy was unremarkable OU. Ultrasound biomicroscopy showed an ill-defined scleral homogeneous lesion at the temporal quadrant, without intraocular invasion. A superficial sclerokeratectomy was performed. RESULTS: Histopathologic evaluation revealed inflammatory aggregates composed of lymphocytes, plasma cells, and histiocytes. The histiocytes appeared pale, and some of them had intact lymphocytes and plasma cells within their cytoplasm. Russell bodies were also found. The histiocytes were positive for CD68 and S-100 and negative for lysozyme and CD1a. Special stains for microorganisms were all negative. Those findings were consistent with the diagnosis of extranodal RDD. Systemic workup failed to reveal lymphadenopathy or extranodal disease elsewhere. At the 14-month follow-up, there were no signs of recurrence. CONCLUSIONS: Although extranodal manifestations are common in RDD and the lack of lymph node involvement is rare, our study supports that whenever there is an epibulbar tumor as a manifestation of RDD, the absence of lymphadenopathy is characteristic. Only 2 of the 9 reported cases presented with lymphadenopathy. The presence of emperipolesis and S-100-positive histiocytes during histopathologic evaluation confirms the diagnosis even in the absence of lymphadenopathy.

Expression of C-kit in retinoblastoma: a potential therapeutic target.

BACKGROUND: C-kit is a transmembrane tyrosine kinase protein thought to play an important role in tumourigenesis. With the development of the compound imatinib mesylate, which specifically inhibits tyrosine kinase receptors, C-kit has emerged as a potential therapeutic target. This study aims to determine the immunoexpression of C-kit in retinoblastoma and correlate this expression with histopathological prognostic features. METHODS: Eighty-four paraffin-embedded retinoblastomas were collected from the Henry C Witelson Ocular Pathology Registry. C-kit immunostaining was used according to the protocol provided by Ventana Medical System Inc., Arizona. Immunoreactivity was correlated with the presence or absence of invasion into the choroid and optic nerve and the degree of tumour differentiation. Odds ratios were calculated to quantify differences in C-kit expression between tumours with different patterns of invasion and differentiation. RESULTS: Twenty-one slides (25%) were excluded from analysis because of the presence of extensive tissue necrosis or the absence of sufficient optic nerve tissue for analysis. Overall, C-kit expression was identified in 33/63 specimens analysed (52.38%). Two of the 13 tumours without choroidal or optic nerve invasion (15.4%) were positive for C-kit. C-kit expression was seen in 31 of the 50 tumours with extraretinal invasion (62%, p<0.01), 26 of 44 specimens with choroidal involvement (59.9%, p<0.2), and 20 of the 29 with optic nerve involvement (68.96%, p<0.02). Fourteen of 25 moderate or well-differentiated specimens (56%) and 19 of 38 undifferentiated specimens (50%) displayed positivity for C-kit (p>0.5). CONCLUSIONS: More than half the retinoblastomas in this study expressed C-kit. The expression of C-kit strongly correlated with histopathological features of a worse prognosis including optic nerve and choroidal invasion.

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.

Ciliary body medulloepithelioma: clinical, ultrasound biomicroscopic and histopathologic correlation.

A 3-year-old girl presented with a distorted pupil and decrease of visual acuity. A ciliary body mass at the superior-temporal quadrant could be seen at slit-lamp examination. Ultrasound biomicroscopy revealed a lesion with lobulated surface, arising at the ciliary body, composed of compact and cystic areas. An iridocyclectomy was performed but the tumour recurred after a few months. The eye was then enucleated. Histopathologic evaluation showed sheets and cords of proliferated medullary epithelium. Cystic spaces and Flexner-Wintersteiner rosettes were also seen. Those findings correlated well with ultrasound biomicroscopic images. The knowledge of echographic characteristics can significantly assist in the diagnosis of medulloepithelioma of the ciliary body.

Clinical, histologic, and immunohistochemical evaluation of iris metastases from small cell lung carcinoma.

CASE REPORT: We report the case of a patient with small cell lung carcinoma who developed multiple metastases in the iris. The eye was enucleated after failure of a conservative approach. The specimen underwent histologic and immunohistochemical evaluation that confirmed the diagnosis. COMMENTS: Metastatic carcinoma is the most common form of intraocular malignancy, and breast is the most prevalent primary location, followed by lung. Small cell lung carcinoma constitutes 23.1% of lung neoplasias. It has a significantly worse prognosis than non-small cell carcinoma due to its propensity for early and widespread dissemination. Uveal metastases involve the choroid more often than the iris and ciliary body, probably because the arterial distribution is more abundant in the posterior than in the anterior uvea. Iris involvement represents only 9% of the metastatic uveal tumours.