Swathi Kaliki, Sai Divya Jajapuram
PURPOSE: The purpose was to study the clinical features, treatment, and outcome of retinoblastoma (RB) in neonates. METHODS: This was a retrospective study of five patients with RB detected in the 1st month of life. RESULTS: The mean age at diagnosis of RB was 22 days (median, 24 days; range, 14–28 days). There were one female and four males with neonatal RB. Two patients had a known family history of RB, and the tumor was detected by routine fundus screening in these children. Two patients were brought in with complaints of leukocoria and one patient with complaints of red-eye. All patients had an intraocular tumor at presentation. Four patients had bilateral involvement, whereas only one had unilateral involvement. Based on the International Classification of Intraocular Retinoblastoma, the tumors were classified as Group A (n = 2), Group B (n = 3), Group C (n = 1), Group D (n = 1), and Group E (n = 2). Macular involvement was noted in 6 (67%) eyes. The primary treatment included systemic chemotherapy with/without focal treatment in all patients. One patient subsequently underwent secondary enucleation as the globe became phthisical. One child died while on treatment due to pneumonia secondary to chemotherapy-induced neutropenia. Of the four patients who completed treatment, globe salvage was achieved in 6 (86%) eyes over a mean follow-up period of 89 months (median, 92 months; range, 29–144 months). CONCLUSION: Neonatal RB though rare, if detected early, has a favorable outcome of ocular and life salvage. Sporadic RB can occur in neonates, and a family history may not always be elicited.
Paula Cortes Barrantes, Frederick A. Jakobiec & Thaddeus P. Dryja
Rhabdomyosarcoma (RMS) is the most common sarcoma of childhood and adolescence. Approximately 10% arise in the orbit, where the embryonal type is most common variant. The alveolar variant is less frequent and has a worse prognosis. Cytogenetic studies have revealed that most alveolar rhabdomyosarcomas have translocations involving the PAX and the FOX01 genes, giving rise to fusion genes that contribute to lack of differentiation and proliferation of the tumor cells. However, approximately 20% of alveolar rhabdomyosarcomas lack translocations and have been found to behave more similarly to embryonal cases. Histopathology remains the basis of diagnosis, but cytogenetic features and molecular signatures are becoming part of the routine analysis of RMS, since they determine not only prognosis, but also management and treatment regimens. A comprehensive review of the recent published literature in relation to orbital rhabdomyosarcomas and their cytogenetic features as well as clinical and therapeutic implications will be discussed.
Imran Jivraj, Gino R. Somers, Michel J. Belliveau, David Malkin, Dan D. DeAngelis
This case highlights the management of orbital rhabdomyosarcoma in a child with Li Fraumeni syndrome (LFS). Treatment with chemotherapy and eventual orbital exenteration enabled margin-free control of the tumor. Radiation therapy was avoided to reduce the risk of inducing additional malignancy. Reactive orbital hyperostosis was observed postoperatively and was confirmed with surgical biopsy of the orbital roof. In this case, systemic surveillance imaging, which is necessary in patients with LFS, revealed an adrenal cortical carcinoma.
Mudhar H.S. · Prydal J. · Rennie I.G.
A 38-year-old female, otherwise fit and well, presented with a mass on her left medial bulbar conjunctiva that had been enlarging for several months. Examinations showed a fixed pinkish tumour, 9 mm in maximum extent, spanning from the plica to the medial limbus. The tumour was removed in toto. Histology revealed it to be a biphasic tumour composed of lobules and infiltrative cords within a sclerotic matrix. The cells were spindle-shaped to epithelioid, with nuclear atypia and occasional mitotic figures. The tumour was positive for smooth muscle actin, beta-catenin, and vimentin. All other markers of myoepithelial differentiation and cytokeratins were negative. Genetic analysis showed no evidence of EWSR1 or PLAG1 rearrangements. The light microscopic features and immunohistochemistry strongly supported a tumour with myoepithelial differentiation. The cellular atypia, mitotic activity, and infiltrative edges all pointed to myoepithelial carcinoma. Body imaging/screening showed no evidence of tumour elsewhere, supporting that the tumour was a primary of the conjunctiva. This is the first report of a myoepithelial tumour of the conjunctiva. The patient remains recurrence-free after 3 years of follow-up.
Basil K. Williams Jr., Maura Di Nicola, Sandor Ferenczy, Jerry A. Shields, Carol L. Shields
To describe the clinical and imaging findings and treatment options in a series of patients with iris microhemangiomatosis.
Retrospective observational case series.
Setting: Single institution. Study Population: Twenty-two eyes of 14 consecutive patients with iris microhemangiomatosis were reviewed. Observation Procedures: Clinical examination and slit-lamp photography were performed on every patient. Anterior segment optical coherence tomography (AS-OCT), anterior segment optical coherence tomography angiography (AS-OCTA), anterior segment intravenous fluorescein angiography (AS-IVFA), and ultrasound biomicroscopy were performed when possible. Main Outcome Measures: Clinical and imaging features and treatment strategies.
Twenty-two eyes of 14 patients with iris microhemangiomatosis were included in this series. Mean patient age was 70 years (range, 58–82 years), and all patients were white. The iris hemangiomatosis appeared as subtle, multifocal, ectatic vascular channels arranged circumferentially at the pupillary margin. Iris color was blue (n = 19 eyes) or green (n = 3 eyes), and the features were unilateral (n = 6 patients) or bilateral (n = 8 patients). Additional features included reduced visual acuity (n = 13 eyes), hyphema (n = 12 eyes), and glaucoma (n = 7 eyes). There was no history of ocular trauma or systemic vasculopathic conditions. AS-OCT documented the fine tuft at the pupillary margin, AS-OCTA showed vascular flow, and AS-IVFA demonstrated pupillary margin vascular lesions with mild staining. Observation was advised in 20 cases (91%), and argon laser photocoagulation was required for repetitive hyphema in 2 cases (9%).
Iris microhemangiomatosis is a rare ocular condition, often manifesting with spontaneous unilateral hyphema and/or secondary glaucoma. AS-IVFA confirms the diagnosis, and intervention with laser photocoagulation is necessary in only 9% of eyes.
Jacobs, Sarah; Vangipuram, Gautam; Latimer, Caitlin; Chambers, Christopher
Forty-six-year-old woman presented with a 2-month history of a progressively enlarging mass on the palpebral conjunctiva of the left lower eyelid. The lesion reportedly began as a flat white plaque, but it had recently developed a horn, grown large enough to cause spontaneous eyelid eversion, and became painful (Fig. 1). After imaging to rule out orbital invasion, the lesion was surgically resected with negative margins and no tarsal involvement (AJCC T2b Stage IC, per 16 mm greatest diameter). The resulting conjunctival defect was reconstructed with amniotic membrane graft. Histopathology confirmed well-differentiated squamous cell carcinoma with keratin horn (Fig. 2). Testing for human papillomavirus was negative. Given the clear margins, the patient opted for clinical surveillance rather than adjuvant topical chemotherapeutic agents postoperatively.
Cugley, Dean, R., M.B.B.S.(Hons), B.Med.Sci.; Roberts-Thomson, Samuel, J., M.B.B.S., B.Biomed.Sci.; McNab, Alan, A., F.R.A.N.Z.C.O., F.R.C.Ophth.; Pick, Zelda, M.B.ChB., F.R.A.N.Z.C.O
Merkel cell carcinoma is a rare neuroendocrine tumor of subspecialized dermal mechanoreceptors, associated with immunosuppression. The usual ophthalmic presentation is an eyelid lesion. The authors present a case of biopsy-proven orbital metastatic Merkel cell carcinoma in the absence of any eyelid lesion, in an immunosuppressed patient with a history of multiple cancers. There are to the authors’ knowledge only 2 other case reports of presumed metastatic Merkel cell carcinoma to the orbit, though neither were biopsied. Despite its rarity, metastatic Merkel cell carcinoma should be included in the differential of a metastatic orbital lesion, in the patient with a known or suspected cutaneous primary. The patient has had an excellent response to combined radiotherapy and programmed death-1 inhibitor pembrolizumab, and this case highlights the potential benefit of an exciting new biologic therapy.
Victoria M L Cohen, Efthymia Pavlidou, Joanna Costa, Amit K Arora, Teressa Szyszko, Mandeep S Sagoo, Peter Szlosarek
PURPOSE: The purpose of this study was to report the results of staging primary uveal melanoma with whole-body (18) fluorodeoxyglucose (FDG) positron-emission tomography/computed tomography (PET/CT) and abdominal ultrasound. MATERIALS AND METHODS: From January 2012, patients with uveal melanoma over 4 mm in thickness were staged with FDG PET/CT and abdominal ultrasound. RESULTS: Over 2 years, 108 patients with medium-to-large melanoma underwent dual imaging. According to the tumor, node, and metastasis classification, there were 75% T3, 11% T2, and 14% T1 uveal melanomas. Only, three of 108 patients (2.8%) were found to have metastatic uveal melanoma. All three had liver metastases confirmed following biopsy; one of three had additional extrahepatic widespread metastases. In these three patients, liver findings using both imaging techniques were consistent in one patient. In the second case, abdominal ultrasound missed the diagnosis of metastatic disease; however, FDG PET/CT revealed intense metabolic activity of the liver. In the third case, PET/CT missed the liver metastases; however, this was identified on abdominal ultrasound. PET/CT identified incidental second primary malignancies in 10 patients (9%). Second malignancies were found in the lung, breast, colon, thyroid, and adrenal gland. Abdominal ultrasound detected benign hepatic abnormalities in 20 patients (18%). CONCLUSIONS: Whole-body PET/CT and abdominal ultrasound complement each other in the staging of uveal melanoma. Benign hepatic abnormalities found using ultrasound is common. Of importance, a second asymptomatic primary malignancy associated with uveal melanoma was detected almost one in 10 patients.
Chaves L.J. · Huth B. · Augsburger J.J. · Correa Z.M.
The management of patients with diffuse invasive conjunctival melanoma focuses on local tumor control and screening for metastasis. Despite the lack of consensus on the benefit of sentinel lymph node biopsy for these neoplasms, the information obtained by histopathology is useful for tumor staging and treatment planning. Due to the lack of evidence of survival improvement, orbital exenteration is being performed with diminishing frequency. We describe a patient with diffuse invasive conjunctival melanoma and lymph node involvement treated by tumor debulking, brachytherapy (custom unshielded radioactive device), and adjuvant ipilimumab who has had a favorable outcome without emergence of local tumor relapse or distant metastasis during 16 months of follow up.
Anna Parlin, Alina Dumitrescu, William T. Nunery, Peter J. Timoney & Jason A. Sokol
Optic nerve sheath meningiomas (ONSM) and intra-conal orbital lymphomas are common entities on the differential of a retrobulbar optic nerve involving space-occupying lesion. In this study, we compare the pre-surgical diagnosis, based on clinical presentation and neuroimaging, to the surgical pathology results of intra-conal orbital lymphomas and ONSM. This is an IRB approved retrospective chart review of orbital lymphomas and optic nerve sheath meningiomas biopsied by a single surgeon over a 4-year period at a single institution. Pre-surgical diagnosis and surgical pathology were compared. Fifteen cases of orbital lymphoma were identified. Fourteen were excluded based on extra-conal location. The single histologically confirmed intra-conal orbital lymphoma had a pre-surgical diagnosis of ONSM. Four cases of optic nerve sheath meningioma were identified. Three of the 4 cases of histologically confirmed ONSM had a pre-surgical diagnosis of ONSM. One of the 4 had a pre-surgical diagnosis of lymphoma. Diagnosis based on surgical pathology differed from the pre-surgical diagnosis in 2 out of 5 cases showing that clinical diagnosis does not always correlate with histologic diagnosis. Although both diseases are typically managed with radiation therapy, the treatment dosage and systemic disease implications are very different. These findings emphasis the importance of biopsy in the diagnosis of orbital lesions surrounding the optic nerve.