Patricia Rusa Pereira

Histopathological review of sebaceous carcinoma of the eyelid

Background:  Sebaceous carcinoma of the eyelid can clinically mimic benign conditions, such as recurrent chalazion and inflammation and histopathologically squamous cell and basal cell carcinoma (BCC). This retrospective study was undertaken as an attempt to improve the characterization and consequently the diagnosis of these tumors.

The role of c-kit and imatinib mesylate in uveal melanoma

Background Uveal melanoma (UM) is the most common primary intraocular tumor in adults, leading to metastasis in 40% of the cases and ultimately to death in 10 years, despite local and/or systemic treatment. The c-kit protein (CD117) is a membrane-bound tyrosine kinase receptor and its overexpression has been observed in several neoplasms. Imatinib mesylate is a FDA approved compound that inhibits tyrosine quinase receptors, as well as c-kit. Imatinib mesylate controls tumor growth in up to 85% of advanced gastrointestinal stromal tumors, a neoplasia resistant to conventional therapy. Methods Fifty-five specimens of primary UM selected from the archives of the Ocular Pathology Laboratory, McGill University, Montreal, Canada, were immunostained for c-kit. All cells displaying distinct immunoreactivity were considered positive. Four human UM cell lines and 1 human uveal transformed melanocyte cell line were tested for in vitro proliferation Assays (TOX-6) and invasion assay with imatinib mesylate (concentration of 10 μM). Results The c-kit expression was positive in 78.2% of the UM. There was a statistical significant decrease in the proliferation and invasion rates of all 5 cell lines. Conclusion The majority of UM expressed c-kit, and imatinib mesylate does decrease the proliferation and invasion rates of human UM cell lines. These results justify the need for a clinical trial to investigate in vivo the response of UM to imatinib mesylate.

Current and emerging treatment options for uveal melanoma

Uveal melanoma (UM) is the most common primary malignant intraocular tumor in adults, with a 10-year cumulative metastatic rate of 34%. The most common site of metastasis is the liver (95%). Unfortunately, the current treatment of metastatic UM is limited by the lack of effective systemic therapy. Options for the management of the primary intraocular tumor include radical surgery as well as conservative treatments in order to preserve visual acuity. For metastatic disease, several approaches have been described with no standard method. Nevertheless, median survival after liver metastasis is poor, being around 4–6 months, with a 1-year survival of 10%–15%. In this review, the authors summarize current and promising new treatments for UM.

Primary orbital mesenchymal chondrosarcoma: a case report and literature review

AbstractBackground Mesenchymal chondrosarcoma (MC) is a subtype of chondrosarcoma, with an incidence varying from 1 to 8% of all chondrosarcomas. It is an aggressive neoplasm with a high tendency for late recurrence and occasional delayed distant metastasis. Orbital MC is very rare, and only approximately 30 cases have been described in the literature. We describe here one case of primary orbital MC. Case report A 14-year-old boy without a past medical history presented with a 1-month history of progressive proptosis on the right eye. Computed tomography (CT) scans of the orbit revealed a right intraconic lesion, with areas of calcification. The lesion was excised. Histopathological analysis revealed that the tumor had a biphasic pattern, showing a combination of small cell malignancy and well-differentiated cartilage. Immunohistochemistry examination revealed a diffuse membrane expression of CD99 on the small cell malignancy; S-100 was positive only within the cartilage component. The patient received chemotherapy, and no metastatic disease was found at the 2-month follow-up. Conclusion Although rare, MC should be considered in the differential diagnosis of a well-circumscribed orbital lesion in young adults, especially when CT scans reveal areas of calcification within the tumor.

Retinoblastoma in an adult: case report and literature review.

Retinoblastoma (RB) is a malignant neoplasm derived from photoreceptor precursor cells.1 In more than 90% of cases, the diagnosis is established before the patient reaches 5 years of age.2 RB is the most common intraocular malignant disease of childhood.3 It is rare in adults and for this reason is not usually considered in the differential diagnosis of a retinal or intraocular mass in an adult.4 We report a unilateral RB, with histopathological and immunohistochemical confirmation, in a 21-year-old woman. The base of the tumour had an area of welldifferentiated cells resembling retinocytoma (RC), and in our view the RB came from this benign neoplasm.

Angiosarcoma of the Gallbladder: Case Report and Review of the Literature

A 62-year-old white woman with an unremarkable past medical history presented with acute cholecystitis. A cholecystectomy was performed, revealing an acute hemorrhagic and chronic cholecystitis associated with cholelithiasis. Two months after the operation, the patient developed a massive hemoperitoneum and died by hypo-volemic shock. At autopsy, an angiosarcoma measuring 5 cm in diameter was found in the liver, at the site of the gallbladder fossa. There were multiple hepatic, splenic, ovarian and peritoneal metastases and a massive hemoperitoneum consisting of 8 L of blood and blood clots. Review of the tissue sections from the patients gallbladder confirmed the presence of an acute hemorrhagic and chronic cholecystitis and also revealed residual foci of an angiosarcoma. A review of eight previously reported cases of gallbladder angiosarcoma is also presented.

Malignancy in the blind painful eye - report of two cases and literature review

BackgroundFew cases of malignant tumors arising in a blind painful eye have previously been described. We described two cases of a blind painful eye containing an unsuspected tumor, which were enucleated to relieve the pain.Case presentationsCase 1: A 57 year-old Caucasian man presented with recurrent orbital cellulitis and endophthalmitis in the left eye (OS). The OS was blind and painful and an enucleation was performed showing a uveal melanoma by histopathological exam. Case 2: A 54 year-old Caucasian man with previous history of a rhegmatogenous retinal detachment in his left eye presented a blind painful eye. Enucleation was performed revealing a well-differentiated B-cell lymphoma of uveal tract with extra ocular extension.ConclusionIn the management of a blind painful eye, it is extremely important to rule out an intraocular malignancy particularly in those patients who have not been followed by an ophthalmologist.

Primary Pleomorphic Liposarcoma of the Orbit: A Case Report

To our knowledge, pleomorphic liposarcoma (PL) of the orbit has only been reported in the literature four times. This rarity makes it more difficult to diagnose and to treat in this clinical setting. A 62-year-old female presented with pruritus, edema, proptosis and diplopia 5 months OS. Imaging revealed an intraorbital mass displacing the globe, with infiltration into the sinus. The tumor was removed and the histological examination revealed a highly cellular tumor with heterogenous histology, with a few vacuolated cells and many malignant features. Immunohistochemistry allowed for the differential diagnosis, resulting in a diagnosis of PL of the orbit. The cells were immuno-positive for S-100 and negative for all other relevant markers. According to the literature, prognosis for this neoplasm is quite poor, and exenteration represents the best treatment option. The patient refused exenteration and radiation therapy, however, at 2 year follow-up, she remained recurrence-free.

Melanoma inhibitory activity in Brazilian patients with cutaneous melanoma

BACKGROUND: Melanoma inhibitory activity is a protein secreted by melanoma cells and has been used as a tumor marker. Increased Melanoma inhibitory activity serum levels are related to metastatic disease or tumor recurrence. Currently there are no studies on Melanoma inhibitory activity and cutaneous melanoma involving Brazilian patients. OBJECTIVE: To evaluate the performance and feasibility of measuring Melanoma inhibitory activity levels in Brazilian patients with cutaneous melanoma. METHODS: Blood was obtained from ten patients with proved metastatic cutaneous melanoma (Group 1), 15 patients resected for cutaneous melanoma without metastasis (Group 2) and 5 healthy donors (Group 3). Melanoma inhibitory activity was measured using a commercially available ELISA kit. RESULTS: There was a statistically significant difference of Melanoma inhibitory activity levels between patients with and without metastasis (p=0.002), and between patients with metastasis and healthy donors (p=0.002). There was no difference between patients without metastasis and healthy donors (p=0.443). CONCLUSION: Melanoma inhibitory activity is a tumor marker for cutaneous melanoma and the Melanoma inhibitory activity-ELISA test can be easily performed. Patients with metastasis have increased Melanoma inhibitory activity serum levels when compared to patients without metastasis and healthy donors.

Expression of EpCAM in uveal melanoma

BackgroundUveal melanoma (UM) is the most common primary intraocular malignant tumor in adults, and nearly 40% of UM will develop metastasis that will ultimately lead to death. The Epithelial Cell Adhesion Molecule (EpCAM) is a type I transmembrane glycoprotein expressed by carcinomas of head and neck, ovary, colon, breast, kidney and lung. Recently, antibodies against EpCAM such as Edrecolomab and Catumaxomab were developed, and clinical trials with these antibodies have been used in several types of neoplasia. We studied the expression of EpCAM in UM.Methods25 enucleated formalin-fixed, paraffin-embedded UM specimens were immunostained for EpCAM. Histopathological analysis of the specimens with regards to prognostic factors such as cell type, largest (linear) tumor dimension, number of mitotic figures, scleral invasion and tumor infiltrating lymphocytes were done.ResultsNone of them was positive for this EpCAM.ConclusionIn our report, UM did not express EpCAM. Therefore, it is not a helpful immunohistochemical marker to predict the behavior of UM. Further studies are needed to verify if EpCAM could also be related with prognosis and treatment of UM.