Orbital soft tissue composite lymphoma presenting as recurrence of a nodal lymphoma with mantle and follicular cell components: A case report, literature review and guideline for the treatment of patients.

Composite lymphoma with mantle and follicular cell components is a challenging diagnosis. Flow cytometry, immunohistochemistry and molecular genetics are required to distinguish the two components, as often the more aggressive one is predominant and masks the other. A 58-year-old man with history of nodal composite lymphoma presented with right exophthalmos and diplopia. A head CT scan showed an orbital tumor. A biopsy of the tumor revealed a mantle cell lymphoma predominating over a follicular lymphoma. Immunoglobulin heavy chain and light chain rearrangements analysis by PCR proved that both components of the orbital tumor were recurrences of the same nodal composite lymphoma diagnosed two years earlier. The nodal lymphoma was composed of a follicular lymphoma and an in situ mantle cell neoplasia. Consensus view is that dominant lymphoma should be treated when needed but taking into account if the mantle cell lymphoma is an in situ neoplasia and if it expresses CD5 and SOX11.

A case of radiation-induced mucosal melanoma in an immunohistochemically S-100-negative patient.

We report a case of radiation-induced mucosal melanoma in a 41-year-old woman with a history of childhood rhabdomyosarcoma of the nasal cavity that had been treated with radiotherapy. During the workup for the melanoma, the patient was found to be negative for S-100 protein on immunostaining. While many melanotic markers for the histologic confirmation of melanoma exist, they can be negative in some cases, such as ours. To the best of our knowledge, only 1 case of radiation-induced melanoma has been previously reported in the English-language literature, and in that case the patient was S-100-positive. Although our case is rare, it suggests another possible long-term adverse effect of radiotherapy. We also describe the morphologies and histology associated with diagnosing melanoma in an S-100-negative patient.

Rare presentation of orbital plasmablastic lymphoma with oral cavity involvement in an HIV-negative patient.

Plasmablastic lymphoma is described as a subtype of non-Hodgkin's lymphoma under the category of diffuse large B-cell lymphoma. It is classified by WHO as HIV-associated lymphoma of the oral cavity. Several cases have been reported in non-HIV patients with extra-oral involvement. The characteristic immunohistochemical markers are generally positive for CD138, CD38 and MUM1/IRF4, and negative or weakly positive for pan B-cell markersCD20, CD79a, PAX-5 and BCL-6. We report a rare case of orbital plasmablastic lymphoma with oral and oropharyngeal involvement where the immunohistochemical markers were positive for CD138, CD43, CD45, CD79a and MUM1. A small subset of markers was weakly positive for CD20, CD30 and κ, and negative for CD10, BCL-6, CD4, CD56 and Epstein-Barr virus-encoded small RNA (EBER). Our case reinforces the fact that plasmablastic lymphoma is a different entity of non-Hodgkin's lymphoma that cannot simply be classified under diffuse large B-cell lymphoma. It demands modification of the WHO classification.

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 rhabdomyosarcoma with skin metastasis: a case report.

BACKGROUND: Rhabdomyosarcoma is a soft tissue neoplasm that usually arises in the head and neck region and genitourinary tract. Skin metastasis of rhabdomyosarcoma is extremely rare; of thirteen cases reported in the literature, most were children younger than 10 years and only three cases have been reported in adults. CASE PRESENTATION: A 20-year-old Moroccan man was admitted with a right orbital tumor. The tumor was excised and histopathology examination confirmed a diagnosis of rhabdomyosarcoma. The patient was treated with chemotherapy, but local recurrence occurred one year later. The patient underwent right orbital exenteration followed by chemotherapy and radiotherapy. After 6 months, the patient developed a cutaneous mass in the right lumbar region, which was resected. Immunohistochemical examination of the tumor showed this to be a cutaneous metastasis of rhabdomyosarcoma. The patient was treated by chemotherapy and there appeared to be no recurrence after 9 months of follow up. CONCLUSIONS: Skin metastasis from rhabdomyosarcoma is extremely rare, particularly in adults. The purpose of presenting this case report is to raise awareness among clinicians--skin biopsy and immunohistochemistry are needed to distinguish this neoplasm from other cutaneous tumors so that appropriate treatment can be initiated.

Four cases of solitary fibrous tumour of the eye and orbit: one with sarcomatous transformation after radiotherapy and one in a 5-year-old child's eyelid.

BACKGROUND: Solitary fibrous tumour (SFT) is quite a rare neoplasm involving the eye and the orbit. It is described as showing benign behaviour in adults, but malignant cases are exceptionally reported in this location. This report describes four new cases of SFT/giant cell angiofibroma (GCA) of the eyelid and orbit, one in a 5-year-old child, and one with sarcomatous dedifferentiated transformation occurring 9 years after radiotherapy. METHODS: Four cases of ocular SFT/GCA were retrieved from the database of the Pathological Anatomy Unit, University of Padova; immunohistochemistry and RT-PCR were used to identify COL1A1-PDBGF fusion gene transcripts in all cases. RESULTS: In case 1, late relapse 9 years later was characterised by abrupt transition into a high-grade component, associated with a non-distinctive high-grade sarcomatous area. The latter component was CD34, CD99 and Bcl2 negative and smooth muscle actin positive. Molecular characterisation showed the absence of COL1A1-PDGFB fusion transcripts in cases 1, 3 and 4, excluded diagnosis of giant cell fibroblastoma in all cases. Analysis could not be performed in case 2. CONCLUSIONS: An eyelid SFT/GCA in a 5-year-old child is the youngest case reported in the literature, indicating that the tumour is not exclusive to adults. The case with sarcomatous transformation, with dedifferentiated features occurring 9 years after radiotherapy, raises some questions about the choice of treatment for ocular SFT, in which excision is sometimes difficult without devastating surgery.

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.

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.

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.

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.

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.

Diffuse large B-cell lymphoma of the ocular adnexal region: a nation-based study.

PURPOSE: To characterize the clinicopathological features of diffuse large B-cell lymphoma (DLBCL) of the ocular adnexal region. METHODS: The present series of orbital and adnexal DLBCLs were found by searching the Danish Registry of Pathology between 1980 and 2009. Histological specimens were re-evaluated using a panel of monoclonal antibodies. Clinical files from all patients with confirmed DLBCL were collected. RESULTS: A total of 34 patients with DLBCL of the ocular adnexal region were identified. Eighteen of the patients were men. The patients had a median age of 78 years (range 35-97 years). Ninety-seven per cent of the patients had unilateral ocular adnexal region involvement, and the orbit (76%) was the most frequently affected site. Nineteen patients (56%) presented with Stage I lymphoma. Of these, 18 were diagnosed with primary lymphoma. Four patients (12%) had Stage II, one patient (3%) had Stage III and ten patients (29%) presented with Stage IV lymphoma. The 5-year overall survival (OS) rate for the whole study group was 20%. The patients with Stage I lymphoma had a significantly better 5-year OS rate (28%) than patients in Stage II-IV (5-year OS rate, 9%). In Cox regression analysis, concordant bone marrow involvement and the International Prognostic Index (IPI) score were prognostic factors for OS. CONCLUSIONS: Diffuse large B-cell lymphoma of the ocular adnexal region is mainly prevalent in elderly patients. Most patients had unilateral orbital involvement. The overall prognosis is poor. Concordant bone marrow involvement and the IPI score were independent prognostic factors for mortality.

Primary synovial sarcoma in the orbit.

Synovial sarcoma is a rare malignant neoplasm that accounts for approximately 6% to 9% of all soft-tissue tumors. It occurs predominately in upper and lower extremities of young adults. We report the first case of a primary orbital synovial sarcoma in an 18-month-old girl.

[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.

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.

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.