Preliminary study on the optical diagnosis of orbital rhabdomyosarcoma by Raman spectroscopy.

To investigate the Raman spectral features of orbital rhabdomyosarcoma (ORMS) tissue and normal orbital tissue in vitro, and to explore the feasibility of Raman spectroscopy for the optical diagnosis of ORMS. 23 specimens of ORMS and 27 specimens of normal orbital tissue were obtained from resection surgery and measured in vitro using Raman spectroscopy coupled to a fiber optic probe. The important spectral differences between the tissue categories were exploited for tissue classification with the multivariate statistical techniques of principal component analysis (PCA) and linear discriminant analysis (LDA). Compared to normal tissue, the Raman peak intensities located at 1450 and 1655 cm-1 were significantly lower for ORMS (p < 0.05), while the peak intensities located at 721, 758, 1002, 1088, 1156, 1206, 1340, 1526 cm-1 were significantly higher (p < 0.05). Raman spectra differences between normal tissue and ORMS could be attributed to the changes in the relative amounts of biochemical components, such as nucleic acids, tryptophan, phenylalanine, carotenoid and lipids. The Raman spectroscopy technique together with PCA-LDA modeling provides a diagnostic accuracy of 90.0%, sensitivity of 91.3%, and specificity of 88.9% for ORMS identification. Significant differences in Raman peak intensities exist between normal orbital tissue and ORMS. This work demonstrated for the first time that the Raman spectroscopy associated with PCA-LDA diagnostic algorithms has promising potential for accurate, rapid and noninvasive optical diagnosis of ORMS at the molecular level.

A Case of Blastic Plasmacytoid Dendritic Cell Neoplasm with Orbital Tumor as the Initial Symptom.

BACKGROUND: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy arising from precursor dendritic cells. It is a rare and challenging clinical presentation. For decades, there has been no treatment course for managing BPDCN and its overall prognosis is poor. METHODS AND RESULTS: We report a 27-year-old man who was admitted to the hospital due to an orbital tumor as the first symptom. Progressive enlargement of the orbital tumor was accompanied by multiple purple circular nodules on the body trunk. Pathological confirmation of BPDCN after resection of the orbital mass. Bone marrow smear and flow cytometry on examination indicate AML-M5. Performance of chemotherapy and peripheral blood autologous stem cell transplantation. CONCLUSIONS: The clinical manifestations of blastic plasmacytoid dendritic cell neoplasms are diverse. The diagnosis of BPDCN can be difficult due to overlapping morphologic, immunophenotypic, and clinical features of other hematologic AML. Relapsed and refractory BPDCN remains an elusive therapeutic challenge. The future of new targeted therapeutic drugs is expected.

A Review of Pediatric Ophthalmic Tumors.

Tumors of the eye, orbit, and ocular adnexa can arise in the pediatric population. These entities can be both vision- and life-threatening and may be associated with systemic disease. Given their relative rarity, pediatricians must be aware of these conditions and understand what findings warrant immediate referral to an ophthalmologist for initiation of further testing. We aimed to review these conditions and highlight clinical features to promote awareness and expedite diagnosis. Tumors are subdivided into the following categories for review: anterior tumors of the eyelid and ocular surface, orbital tumors, and intraocular tumors.

Clinical, Diagnostic, and Treatment Characteristics of Orbital Liposarcoma.

PURPOSE: To clarify the clinical, diagnostic, and treatment characteristics of orbital liposarcoma. DESIGN: Retrospective observational case series. METHODS: A review was performed of electronic medical records, histopathology, radiological images, and follow-up information for 21 patients with orbital liposarcoma. RESULTS: The predominant clinical manifestation of this disease was painless exophthalmos. The most frequently encountered pathological types were well-differentiated and myxoid liposarcoma. Preoperative radiological images from 15 patients showed that orbital liposarcoma initially developed in extraocular muscle in 9 patients. Furthermore, all well-differentiated liposarcomas exhibited the radiographic characteristics of irregular and ill-defined adipose tissue, whereas only 12.5% of myxoid liposarcomas had the imaging characteristics. For the patients who exclusively underwent surgery, all of those with subtotal excisions experienced recurrence, 63.6% of marginal excisions recurred, and 50% of wide excisions resulted in recurrence. However, none of the patients who underwent marginal excisions or wide excisions combined with adjuvant radiotherapy exhibited recurrence. The analysis of magnetic resonance imaging findings in 3 patients who underwent neoadjuvant radiotherapy revealed that the tumor size remained stable in a patient with well-differentiated liposarcoma, whereas another patient with the same type of tumor exhibited a gradual increase in size. Conversely, a patient with myxoid liposarcoma experienced a significant reduction in tumor size following neoadjuvant radiotherapy. CONCLUSION: Orbital liposarcoma demonstrated a propensity for developing in the extraocular muscle. The radiological images of orbital well-differentiated liposarcomas were characterized by irregular and ill-defined adipose tissue. Surgery combined with radiotherapy demonstrated potential in reducing recurrence rates. Notably, orbital myxoid liposarcoma exhibited greater sensitivity to radiotherapy compared to well-differentiated liposarcoma.

Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature.

We present a case of primary rhabdoid tumour of the orbit. Presenting features at birth included congenital ptosis, conjunctival injection, hyphaema and microphthalmia. The unique presentation caused a late diagnosis following the development of rapid proptosis 6 months later. We suggest that orbital rhabdoid tumour be considered in the differential diagnoses of patients presenting with atypical persistent foetal vasculature features.

Fine-Needle Aspiration Biopsy as a Diagnostic Modality for Orbital Adnexal Lymphoma.

INTRODUCTION: The aim of this study was to evaluate fine-needle aspiration biopsy (FNAB) as a diagnostic tool for lymphoproliferative orbital lesions in light of recent improvements in cytomorphological and immunologic analyses. METHOD: Retrospective case series including all orbital FNABs with a lymphoproliferative outcome at Karolinska University Hospital, Stockholm, Sweden during the period 2005-2015. RESULTS: Of the 38 patients included, 31 (82%) were conclusively diagnosed as having lymphoma according to the first FNAB. Disease in 20 patients (65%) could be subclassified. The diagnosis in 7 patients (18%) was either inconclusive, suggestive of lymphoma, or reactive lymphatic infiltrate. These 7 patients were re-investigated, and the initial suspected diagnosis of malignant lymphoma was confirmed in four. Two of the remaining 3 patients were initially diagnosed as having non-lymphoproliferative disease; however, this was later changed to a lymphoproliferative diagnosis following reinvestigation, while the results of both reFNAB and incisional biopsy were inconclusive in the third. CONCLUSION: In the majority of the 38 patients, a definitive diagnosis of lymphoma could be made based on FNAB alone, using cytomorphological and immunological workup, and subclassification was possible in 20 patients (65%). Primary low-grade malignant orbital lymphomas are traditionally treated with low-dose radiotherapy regardless of subtype, and incisional biopsy was not needed to initiate treatment. Our findings suggest that FNAB is a valid first option for the diagnosis of suspected orbital lymphomas due to the minimal risk of complications compared to incisional biopsy, and the fact that it can be performed as an outpatient procedure with no anesthesia.

A Rapidly Expanding Hemorrhagic BRAF-Mutant Orbital Atypical Glomus Tumor.

A healthy 32-year-old woman presented with the acute onset of left sided eye pain, upper eyelid fullness, and binocular diplopia during light weightlifting. Examination elevated intraocular pressure, proptosis, upper eyelid ptosis, and motility deficits. CT demonstrated a well-circumscribed, homogeneous-appearing extraconal mass in the superior left orbit. The patient underwent an urgent orbitotomy with the excision of a hemorrhagic mass. Histopathology showed a glomus tumor with atypical features and hemorrhagic infarction, best classified as having uncertain malignant potential. A B-Raf proto-oncogene V600E mutation was detected with immunohistochemistry, which suggests a more aggressive tumor behavior yet presents an opportunity for targeted primary or adjunctive therapy. This is the first reported case of a B-Raf proto-oncogene-mutant atypical glomus tumor arising in the orbit.

Orbital Liposarcoma Progression From a Well-Differentiated to a Dedifferentiated Type in a Young Patient.

A young male patient presented with unilateral proptosis of the left eye. Laboratory tests and an initial computed tomography scan of the orbit were compatible with euthyroid orbitopathy. He subsequently underwent decompression surgery for unfavorable cosmesis and corneal exposure symptoms with good results, but returned 1 year later for recurrence of proptosis. There was a superomedial fatty density extraconal mass on computed tomography scan. A biopsy done a year later confirmed the diagnosis of well-differentiated liposarcoma from the previously noted mass and a dedifferentiated component in the newly appeared mass in the intraconal space. Orbital exenteration with radial forearm free flap was performed followed by orbital radiotherapy. No disease recurrence or metastasis was seen on follow-ups for 7 years since undergoing treatment.

Clinical spectrum and clinicopathological correlation of pediatric orbital tumors: 20 years' experience from a tertiary eye care center.

PURPOSE: To study the epidemiological profile of various pediatric orbital tumors and determine their clinicopathological correlation over 20 years. METHODS: A retrospective analysis of all pediatric patients with orbital tumors from the medical records between 1995 and 2015 was done. Tumors were categorized based on their cellular origin. Demographic details, clinical and histopathological diagnoses, frequency, and clinicopathological correlation were studied. RESULTS: A total of 265 pediatric patients with orbital tumors were analyzed, of which 145 (54.7%) patients were males and 120 (45.3%) were females. The mean age was 7 years (median: 6 years; range: 10 days-16 years). The distribution of lesions in each group was as follows: vasculogenic, 76 (28.7%); lipogenic and myxoid, 66 (25%); myogenic, 31 (11.7%); optic nerve and meningeal, 22 (8.3%); lymphoid and lymphoproliferative, 18 (6.8%); secondary orbital tumors, 14 (5.2%); histiocytic, 9 (3.4%); miscellaneous, 9 (3.4%), lacrimal gland, 8 (3%); mesenchymal with neural differentiation, 6 (2%); osseous, 4 (1.5%), and fibrocystic, 2 (0.8%). The most common benign and malignant pediatric orbital tumors were dermoid cysts (65, 24.5%) and rhabdomyosarcoma (31, 11.7%). A statistically significant ( P < 0.0001) clinicopathological correlation was observed in 208 (83.2%) out of 250 biopsy-proven cases. CONCLUSION: Pediatric orbital neoplasms include a broad spectrum of benign and malignant lesions. Vasculogenic tumors constitute the majority of them, followed by lipogenic and myxoid tumors. A thorough knowledge of the incidence, clinical profile, imaging features, and histopathology of specific orbital tumors aids in accurate diagnosis and their successful management.

Assessing the Usefulness of Ultrasonography for the Diagnosis and Evaluation of Intra-Orbital Lesions in Pediatric Patients: A Retrospective Analysis.

OBJECTIVES: To assess the usefulness of ultrasonography in the diagnosis and evaluation of extraocular intra-orbital lesions in pediatric patients. METHODS: Twenty-three pediatric patients with intra-orbital lesions who underwent both ultrasound and computed tomography/magnetic resonance imaging (CT/MRI) were included. The following parameters were evaluated using ultrasound: 1) lesion detection rate (presence or absence of lesions), 2) lesion characteristics, 3) lesion location (extraconal or intraconal), and 4) the lesion longest linear dimensions, and these were compared using Fisher's exact test and Mann-Whitney U test. RESULTS: Two lesions could not be detected using ultrasound; in the other 21 cases, the lesion characteristics diagnosed by ultrasound were correct. Diagnostic accuracy of detection and characteristics assessment using ultrasound were 91.3% and 91.3%, respectively. The lesion location was not significantly different between the two groups (intraconal/extraconal in those detected using ultrasound versus those in the absence on ultrasound = 7/14 versus 0/2, P > .999); however, in two cases that were not detected on ultrasound, the lesions were located at extraconal. Lesions that were small in longest linear dimensions on CT/MRI were not detected using ultrasound (the longest linear dimensions in lesions detected using ultrasound versus that in the absence of ultrasound: 29.5 ± 8.2 [range, 13-46] versus 10 and 11 mm, P = .043). CONCLUSIONS: Ultrasonography proved to be useful for visualizing and evaluating intra-orbital lesions except for lesions that were relatively small in size. Therefore, although ultrasound could not detect lesions located behind bone and bone invasion, it could be used for diagnosing and selecting treatment strategies for intra-orbital lesions.

Malignant recurrent orbital solitary fibrous tumor.

Solitary fibrous tumor (SFT) is a rare mesenchymal tumor of fibroblastic origin commonly occurring in pleura. It can occur at many extrapleural sites but is rare in orbit. Most cases are benign and recurrence is not unusual in the head and neck and orbit and is usually due to incomplete surgical excision. However, malignant transformation (MT) in orbital SFT is extremely unusual. We present a case of orbital SFT in adult male who developed recurrence with MT eight years after initial surgical excision. He underwent left orbital exenteration. The recurrent tumor revealed features of malignancy with areas exhibiting morphology typical of SFT. The immunochemistry confirmed the diagnosis of SFT with MT. The patient was given adjuvant radiation and was disease free for the last 18 months. Identification of malignancy in orbital SFT is important for the patient to receive appropriate postoperative treatment, as seen in the present case.

A rare presentation of orbital spindle cell carcinoma a case report and brief review of the literature.

BACKGROUND: To describe a case of orbital spindle cell carcinoma which presented with limbal ischemia and briefly review the literature. METHODS: Retrospective case report and brief literature review. RESULTS: A 61-year old man presented with blepharoptosis, periorbital pain, decreased vision and limbal ischemia. He did not mention any previous illness and did not take any kind of drugs. Imaging revealed an orbital mass that was positive for SMA, Vimentin and CD99 and negative for S100. We treated the patient with chemotherapy and followed him for other complications that occurred throughout disease course. CONCLUSION: Spindle cell carcinomas are a rare variant of squamous cell carcinoma (SCC) with dual malignant histologic differentiation of squamous and mesenchymal cells. Few cases of orbital spindle cell carcinoma have been reported, which have been either secondary to distant metastasis or regional spread. In this study, we have reported the first case of primary orbital spindle cell carcinoma presenting with limbal ischemia. Further studies are needed to describe the different clinical presentations and management strategies of this rare clinical entity.

Microcystic adnexal carcinoma of the eyelid and orbit: A case report and review of literature.

Microcystic adnexal carcinoma (MAC), a rare and low-grade malignant skin tumor, is characterized by a high rate of misdiagnosis and a preponderance for local recurrence, but seldom seen nodal or distant metastasis. Although MAC typically occurs almost in the head and neck region, primary eyelid or orbital MAC is very rare. To explore the unique characteristics of the eyelid and orbital MAC, we reviewed the relevant literature. Based on its distinctive anatomical location and the aggressive behavior, eyelid or orbital MAC not only exhibit a high rate of misdiagnosis and local recurrence, but also lead to serious complications such as disfigurement after orbital exenteration, paranasal sinuses or intracranial invasion, even death. Misdiagnosis of MAC commonly result from its rarity and nonspecific clinical and histopathological presentation. To reduce or avoid misdiagnosis, it is important to increase awareness for MAC and obtain a full-thickness biopsy specimen in histopathological analysis. Due to its extensive invasive growth pattern, MAC has a high rate of local recurrence, so complete excision with clear margins and long-term follow-up of patients with MAC are necessary. About those serious complications of the eyelid and orbital MAC, early and accurate diagnosis, complete excision is very important. Moreover, an interprofessional team consisting of ophthalmologist, otolaryngologist, neurologist, dermatologist, pathologist, radiologist is needed to evaluate and treat this disease. In summary, increasing awareness, early and accurate diagnosis, complete excision, long-term follow-up, and a multidisciplinary team is crucial for management of the eyelid and orbital MAC.

Acute periocular haemorrhage associated with severe proptosis as a presenting sign of orbital tumours.

Periocular haemorrhage without a preceding history of trauma, and in the absence of vascular malformations is rare. While acute proptosis is well described in the setting of orbital pathology, accompanying periocular haemorrhage has been rarely reported. We describe three cases with these concomitant presenting signs in orbital malignancies - metastatic small cell bladder carcinoma, haemangiopericytoma (solitary fibrous tumour) and myeloma. Clinical photographs and radiology are presented with review of the current literature. All cases had an associated rapid onset of severe proptosis and co-existing periocular bruising on the same side. The presence of ecchymosis of the eyelids in addition to proptosis without a history of trauma warrants thorough investigation to rule out underlying potential sight and life threatening illness.