Regression of a paraganglioma tumor of the orbit.

PURPOSE: To describe a clinical case of an orbital paraganglioma that displayed regression after biopsy alone. METHODS: Case report. RESULTS: A 75-year-old female was examined for a right orbital tumor suspected to be metastatic breast carcinoma. An orbital biopsy was performed with significant hemorrhage encountered requiring extensive cautery. There was apparent clinical regression of the tumor with no signs of proptosis or eye movement restriction two years after this patient's biopsy. Histology was consistent with paraganglioma (glomus tumor). CONCLUSION: Although we cannot rule out spontaneous regression of this unique tumor, we postulate that tissue necrosis caused by the use of cautery induced regression. Unless encapsulated and easily accessible, we suggest that the best management of this rare tumor is that of observation after being found negative for malignancy by biopsy given their propensity for slow progression and in rare cases, regression.

Orbital fibrous histiocytoma mimicking cavernous hemangioma on dynamic contrast-enhanced MRA imaging.

Orbital lesions include a broad spectrum of tumors, vascular abnormalities, and inflammatory conditions. High-resolution imaging has become an invaluable tool toward formulating an accurate diagnosis, and facilitates proper counseling regarding appropriate interventions. Imaging may guide whether partial excision to minimize damage to orbital structures, or en bloc removal to prevent potential recurrence, as seen in mesenchymal tumors, is indicated., Recently, dynamic contrast-enhanced magnetic resonance angiography (MRA) has demonstrated use in helping differentiate orbital vascular lesions. This imaging modality uses rapid MRI acquisition to provide noninvasive, dynamic flow information with high spatial resolution. However, even with modern imaging, reaching a diagnosis prior to histopathological analysis can be challenging. We present a case of orbital fibrous histiocytoma that appeared nearly identical to cavernous hemangioma on dynamic contrast-enhanced MRA.

A case of congenital myofibroma of the orbit presenting at birth.

PURPOSE: The purpose of this report is to highlight a rare cause of congenital proptosis. METHODS: This is a case report. RESULTS: We present a case of a baby girl born with a large myofibroma in the right retrobulbar space. This case is unusual because it presented from birth and was in a critical location. A prenatal ultrasound performed two days prior to birth did not reveal this mass to the technician or obstetrician. At birth, the tumor induced severe proptosis, with the eyelids unable to close around the globe. Deterioration of the ocular surface secondary to exposure was evident immediately after birth. One week after birth, the mass was excised by the Oculoplastics service in conjunction with a Neurosurgical team using a transcranial approach. The tumor was diagnosed by histopathology and immunologic staining as a myofibroma, a rare condition. CONCLUSIONS: Orbital myofibroma is a rare cause of congenital proptosis presenting at birth.

Correlation between clinical features, imaging and pathologic findings in recurrent solitary fibrous tumor of the orbit.

PURPOSE: To correlate clinical features, imaging and pathologic findings in recurrent Solitary Fibrous Tumor of the orbit (SFT) in order to predict long-term behavior. METHODS: Clinical features, imaging and pathologic findings of three patients with biopsy proven SFT are reported. Demographic and clinical features were recorded at presentation and at each consultation; imaging was performed as a diagnostic tool and for follow-up. A biopsy was performed at presentation and subsequently when symptoms worsened. Pathology specimens were reviewed retrospectively to corroborate diagnosis. Intraoperative and histopathologic features were recorded. A correlation was made between clinical, imaging and pathologic results to identify outcome predictors of recurrence, locally aggressive behavior and malignant transformation. RESULTS: All cases presented recurrent tumors with locally aggressive behavior over time. All were women in the fifth decade of life. Tumors induced proptosis, swelling of the lids and eye displacement at presentation and were diagnosed as other types of collagen-rich tumors before CD34 immunohistochemistry was available. Mean follow-up was 26.6 years (range 12-37). Relevant findings for all cases included a heterogeneous, irregular tumor containing cystoid spaces filled with mucoid material diffusely enhancing with imaging techniques. Intraoperative findings included a gelatinous matrix within the center of the tumor mass, which was not present at primary resection. Histopathology could not detect specific cellular patterns or immunological markers related to these changes. CONCLUSIONS: Recurrence and locally aggressive behavior was better predicted by imaging and surgical findings rather than histopathological characteristics. Cystoid degeneration in recurrent tumors may suggest malignant transformation over time.

Primary dermatofibrosarcoma protuberans of orbit--a rare entity.

Primary Dermatofibrosarcoma Protuberance (DFSP) is a rare neoplasm of dermal origin. Though it is a locally aggressive tumor with high recurrence rate, however distant metastasis can also occur. Orbital DFSP is an uncommon phenomenon. It has been reported due to distant metastasis or invasion from adjacent structures but Primary Orbital DFSP is a unique entity in itself. Herein we report a rare case of primary DFSP of the orbit in a 70-year- old lady who underwent orbital exenteration. Histopathology examination (HPE) revealed spindle cells arranged in storiform pattern and immunohistochemistry (IHC) revealed CD34 positive and S100 negative.

Dermatofibrosarcoma protuberans with primary orbital manifestation.

A 45-year-old, otherwise healthy woman presented with mild epiphora and a palpable mass in the lacrimal sac area. After transcutaneus orbitotomy and complete excision histopathology revealed a primary Dermatofibrosarcoma protuberans invading the orbit. During the 24-months follow-up, no recurrence occurred. To the best of our knowledge this is the first report of a primary DFSP with the orbit involved.

Orbital solitary fibrous tumor: a clinicopathologic study of ten cases with long-term follow-up.

BACKGROUND: Solitary fibrous tumor (SFT) is a rare spindle-cell benign neoplasm and located in orbit. The present research represents case reports of ten patients with orbital SFT. METHOD: Prognosis was assessed by clinic service and telephone interview. Clinical data were retrieved from the medical records. Immunohistochemistry for CD34, CD99, EMA, HMB-45, Bcl-2, GFAP, S-100, MBP, CK, and MIB-1 was performed. Distributions of time to progression and recurrence between different operative methods were estimated using the Kaplan-Meier method and compared using the log-rank test. FINDINGS: The ten patients included six men and four women (range: 19-75 years). The most common initial symptom was painless proptosis (n = 6). After the ten initial surgeries, with four requiring gross total resection (GRT) and six requiring subtotal resection (STR), an additional nine were required to remove recurrent tumors. Eighteen samples were obtained for pathological examination (the third sample for case 4 was not achieved). Cellular areas with partial hemangiopericytoma pattern were noted in four samples (4/18); scarce mitosis was noted in six samples (6/18). All SFTs (18/18) were positive for CD34, CD99 and vimentin, while all SFTs (18/18) were negative for EMA, CK, MBP, HBM-45 and GFAP. Bcl-2 was positive in 13/18 cases, while S-100 was negative in 14/18 cases. The MIB-1 labeling index varied from 1% to 3%. Follow-up was available for nine patients with a median of 88 months. All four patients who underwent GTR on initial operation did not recur; while the five patients who underwent STR recurred. The log-rank test showed that the incomplete surgical resection was significantly associated with recurrence (p = 0.015). CONCLUSIONS: Orbital SFT is a rare mesenchymal tumor and painless proptosis is the most common initial symptom. Immunohistochemistry should be used to differentiate SFT from other tumors. Orbital SFT usually has a non-aggressive histological characteristic, and has a good prognosis if GTR is performed. Postoperative regular and long-term follow-up remains mandatory to monitor recurrence.

Orbital perineurioma in the setting of dacryocystitis.

A benign orbital perineurioma was discovered just posterior to the lacrimal sac during surgery for recurrent bacterial dacryocystitis in an 83-year-old woman. The tumor was circumscribed but nonencapsulated and located exterior to the lacrimal sac mucosa. It was composed of cytologically bland spindle cells organized in graceful, elongated, and twisted bundles reminiscent of a storiform pattern. Immunohistochemical staining displayed a diagnostic pattern of Claudin-1, GLUT-1, and epithelial membrane antigen positivity. Malignant transformation is virtually unknown, even with incomplete excision. The differential diagnosis includes neurofibroma, schwannoma, leiomyoma, solitary fibrous tumor (CD34 positive), and low-grade fibromyxoid sarcoma.

Primary dermatofibrosarcoma protuberans invading the orbit.

A 38-year-old man presented with a slow-growing, firm cutaneous mass beneath his left eyebrow. Histopathology and immunohistochemistry confirmed the diagnosis of dermatofibrosarcoma protuberans. The mass infiltrated the medial canthal tendon and anterior orbital fat and could not be completely excised with Mohs micrographic surgery. The patient underwent exenteration and dacryocystectomy with margin-controlled excision and remained free of disease 9 months after surgery. To our knowledge, no prior case of primary dermatofibrosarcoma protuberans involving the orbit has been reported.

Glomangioleiomyoma of the orbit--a case report.

Soft-tissue glomus tumours are benign lesions derived from the glomus bodies, which are specialized arteriovenous shunts that serve a thermoregulatory function and are concentrated in the distal extremities of the dermis. Glomangioleiomyoma is rarely found in the orbit, most likely because of the paucity of smooth muscle and glomus bodies in this location. We report the case of a woman with exophthalmos in whom computerized tomography and magnetic resonance imaging showed a large, lobulated mass in the right intraconal space.

Orbital gastrointestinal stromal tumor metastasis.

PURPOSE: To report an uncommon case of orbital gastrointestinal stromal tumor (GIST) metastasis. MATERIAL AND METHODS: Observational case report. RESULTS: A 65-year-old woman with metastatic GIST involving the left orbit with a history of two separate GIST nodules involving the stomach 6 years earlier. Computed tomography (CT) scan demonstrated a well-circumscribed enhancing lesion confined to the anterior orbit. Histopathology analysis of the tumor showed predominantly spindle cells with focal epithelioid forms. It also stained positive for c-KIT (CD117) on immunochemistry, confirming the diagnosis. Additional medical treatment was not required, and the patient was followed up regularly for disease recurrence. CONCLUSION: GISTs typically occur as sporadic solitary tumors. In malignant cases, it usually metastasizes to the liver or other intraabdominal sites. Orbital involvement is extremely rare. This is the first case of metastatic GIST involving the anterior orbit with histopathological and immunochemical confirmation.

[About a case of rhabdomyosarcoma with an aberrant expression of epithelial markers: a cause of misdiagnosis]. / À propos d'un cas de rhabdomyosarcome avec une expression aberrante de marqueurs épithéliaux : une cause d'erreur diagnostique.

We present the case of an embryonal rhabdomyosarcoma of orbitary location with aberrant expression of epithelial markers in a 51-year-old female. The rhabdomyosarcoma is a rare tumor of soft tissues affecting mainly the child, but also exceptionally adults over 50. When it presents as a small round cells tumor, particularly in the region of head and neck, its differential diagnosis with several other poorly differentiated tumors may be difficult. Several cases of rhabdomyosarcoma with aberrant expression of epithelial markers have been reported in the literature. A large immunohistochemical panel is recommended by recent studies in order to avoid diagnostic errors. It includes large spectrum cytokeratins, desmin, neuroendocrine, melanocytic and lymphoid markers. Our observation confirms the importance of conducting this immunohistochemical panel including desmin in the context of a poorly differentiated tumor of the head and neck region. It should be performed whatever the age of the patient and even if the tumor expresses epithelial markers.

Orbital nerve sheath myxoma: a case report.

A 72-year-old man was referred to the Service of Ophthalmology due to a 2-year history of ptosis and a painless mass in the lateral orbital margin of the right eye. Orbital MRI revealed a well-demarcated lesion in the superotemporal quadrant of the orbit. After surgical excision, histopathological examination led to the diagnosis of nerve sheath myxoma, a tumor composed of myxoid nodules separated by fibrous septa with spindle-shaped and stellate cells. Many of these cells were immunostained with antibodies to S-100 protein. This is the first case reported in the literature of such a tumor located in the orbit, and, though extremely rare, it should be considered in the differential diagnosis of orbital tumors.

Orbital schwannoma with fluid-fluid levels on MRI.

A 40-year-old man presented with a progressively growing left orbital mass producing proptosis. Orbital MRI revealed a large bilobed mass that was isointense with respect to the extraocular muscles on T1-weighted images and demonstrated heterogenous contrast enhancement. T2-weighted images revealed a markedly heterogenous internal appearance with fluid-fluid levels. The mass was completely excised in one piece. Histopathologically, the encapsulated tumor consisted mostly of spindle-shaped tumor cells with elongated nuclei forming bundles without obvious mitosis. Richly cellular areas were consistent with the Antoni A pattern, and more hypocellular edematous areas were consistent with the Antoni B pattern. Hemorrhagic and cystic areas were seen within the tumor. The tumor cells stained diffusely positive with S-100 protein. Findings were consistent with the diagnosis of orbital schwannoma. Fluid-fluid levels are usually seen in some vascular and bone tumors and soft tissue lesions. Fluid-fluid levels have previously been reported to occur in intracranial but not in orbital schwannomas. This case demonstrates that orbital schwannoma can also display fluid-fluid levels on MRI, which were thought to be due to intralesional hemorrhage in this case.

Primary T cell/histiocyte-rich large B-cell lymphoma of the orbit.

T cell/histiocyte-rich large B-cell lymphoma (THRBCL) is an uncommon morphologic variant of diffuse large B-cell lymphoma characterized by a minor population of neoplastic B cells existing in a background of predominant reactive T lymphocytes. Diagnosis of this entity is occasionally difficult and would require careful immunohistochemical analysis of the tumor cells, as it may appear similar to other lymphoid diseases, such as nodular lymphocyte-predominant Hodgkin lymphoma, classical Hodgkin lymphoma, and peripheral T-cell lymphoma. The authors report a case of 37-year-old man who presented with a slowly growing, painless proptosis of the right eye with a well-defined mass in the posterosuperior aspect of globe. An incisional biopsy of the mass was performed. Histopathologic examination and immunohistochemical analysis revealed the diagnosis of THRBCL. To the best of the authors' knowledge, this is the first case of primary THRBCL occurring in the orbit.

Primitive neuroectodermal tumor of the orbit in adults: a case series.

PURPOSE: To present the clinical, radiologic, and histopathologic features of orbital primitive neuroectodermal tumor (PNET) in 5 adult patients. METHODS: Retrospective case series of 5 adult patients with orbital PNET. Orbitotomy was performed in all cases. The authors report clinical findings, radiologic features, histopathology, immunohistochemical analysis, management, and outcomes for 5 patients with orbital PNET. RESULTS: Five adult patients presented with progressive unilateral proptosis and visual impairment. Common radiographic findings included a heterogeneous mass without associated destructive features, located in the superior and/or lateral orbit. Four cases demonstrated strong immunohistochemical staining for CD99 in a membranous pattern. One case required chromosomal analysis with fluorescence in situ hybridization to confirm the diagnosis. All patients received chemotherapy and/or orbital radiation with resolution of proptosis but no improvement of vision. One patient died of disease. CONCLUSIONS: To the authors' knowledge, this is the largest series of orbital PNET in adults. This tumor has an age demographic wider than previously believed and should be considered in the differential diagnosis of a hypercellular small round cell orbital tumor in both children and adults. Current treatment regimens are not standardized but typically use a similar approach to the treatment of Ewing sarcoma. Orbital PNET appears to have less propensity for metastasis compared with PNET in other locations. However, long-term aggressiveness remains to be proven.

Clinical and pathologic profile of angiomyxomas of the orbit.

PURPOSE: To describe clinical, imaging, and histopathologic features of angiomyxomas of the orbit, which are extremely rare tumors in the orbit. METHODS: A retrospective review of clinical case records and imaging findings of histopathologically diagnosed cases of angiomyxoma over a period of 8 years (2001-2008). The histopathologic features were studied by routine hematoxylin-eosin staining, special stain (Alcian blue), and immunohistochemistry. RESULTS: Four cases (2 male and 2 female) with a mean age of 35 years (range, 28-40 years) were diagnosed as angiomyxoma. Two of these were angiomyxomas, and 2 were aggressive angiomyxomas. All patients presented with gradual progressive proptosis. The mean duration of symptoms was 10.5 months (range, 5-24 months). There was associated reduction in the visual acuity in 2 cases. The superior orbit was involved in all 4 patients. CT scan showed a heterogeneously enhancing irregular mass confined to the superior orbit. Surgical removal of the mass was performed in all 4 cases. On follow-up, there was recurrence at 6 months in 1 case, which was histopathologically diagnosed as an angiomyxoma. CONCLUSIONS: Angiomyxoma is an extremely rare, locally aggressive orbital tumor, occurring in the third to fourth decade of life. Complete excision is the treatment of choice. These tumors are likely to have a recurrence due to their infiltrative growth and require long-term follow-up.

Solitary fibrous tumor of the orbit with intracranial involvement.

Solitary fibrous tumor of the orbit is a rare neoplasm that often follows a benign course. Additional involvement beyond the orbit is even rarer, having only been reported in 2 cases previously. The authors describe a 62-year-old patient with a primarily intracranial lesion including orbital extension which was debulked and initially diagnosed as meningioma. Two recurrences 3 and 4 years later disclosed a solitary fibrous tumor, with the initial histopathology being revised to the same diagnosis. This rare presentation of an orbital solitary fibrous tumor highlights the surgical challenge faced when the tumor straddles the cranio-orbital junction and demonstrates the potential for rapid regrowth after incomplete excision.

Orbital hyalinizing spindle cell tumor with giant rosettes.

PURPOSE: To evaluate the clinical and histopathologic characteristics of orbital hyalinizing spindle cell tumor with giant rosettes (HSCTGR). METHODS: Interventional case series of 2 patients, aged 4 and 9 years referred to the Ocular Oncology Unit. Both patients presented with slowly progressive proptosis with dimness of vision in the second patient. CT was performed for both patients followed by excision of the masses. Histology was performed on tissue sections. RESULTS: CT revealed a localized tumor in the first case and extensive mass extending to the optic canal in the second patient. Histologic analysis revealed features of HSCTGR with characteristic spindle-shaped cells with giant rosettes with hyalinized foci. Tumor cells were positive for vimentin in both cases and focal S100 positivity in first case. However, the second case showed a higher Ki-67 index compared to the first case, suggestive of moderately high proliferative activity. After excision, neither of the tumors demonstrated local recurrence, and both patients were without regional or distant metastases. Mean clinical follow-up was 12 months. CONCLUSIONS: HSCTGR involving the orbit has not been previously reported in the literature. We report 2 cases of orbital presentation at a much younger age than has been shown in patients with this type of tumor in other areas of the body. Complete excision of this tumor with close follow-up is the preferred treatment. HSCTGR should be considered in the differential diagnosis of orbital fibrous tumor presenting as painless progressive proptosis.

Presumed primary orbital neuroblastoma in a 20-month-old female.

Neuroblastoma is the most common malignant disease of childhood, and it often arises from either the adrenal gland or along the sympathetic chain. The authors report a case of a 20-month-old female with a presumed primary neuroblastoma of the orbit. Radiologically, the tumor showed a brightly enhancing mass lesion of the left side with intraorbital, temporal extraorbital, transsphenoid, and intracranial components. Histopathologically, the tumor was composed of small round blue cells. Immunohistochemical staining was positive for neuron-specific enolase. To the best of the authors' knowledge, primary orbital neuroblastoma has only been previously reported once in children, although it has been reported twice in adults.