Immunoglobulin VH gene expression among extranodal marginal zone B-cell lymphomas of the ocular adnexa.
PURPOSE: Most lymphomas of the ocular adnexa are primary extranodal non-Hodgkin's lymphomas of the B-cell type, with the most common lymphoma subtype being the extranodal marginal-zone B-cell lymphoma (EMZL). Analysis of somatic mutations in the variable (V) region of the Ig heavy (H)-chain gene segment suggests that EMZL development in other locations is dependent on antigen stimulation. The purpose of this study was to analyze the presence of somatic hypermutations in clonally rearranged Ig H-chain V genes of this lymphoma entity in the ocular adnexa and to estimate whether the mutation pattern is compatible with antigen selection. METHODS: Twenty-six cases of EMZL of the ocular adnexa were diagnosed on the basis of morphology, histology, and immunohistology. A nested polymerase chain reaction (PCR) was performed on DNA extracted from paraffin sections. The isolated PCR products were sequenced and compared with published VH germline segments to determine the number of somatic mutations in the complementarity-determining region (CDR) 2 and framework (FW) region 3. RESULTS: The number of somatic mutations in the cases of EMZL varied between 0 and 24: Five cases involved 0 to 3 somatic mutations, and the remaining 21 cases involved 4 to 24 mutations. Based on the ratio of replacement (R) to silent (S) mutations in the CDR2 or FW3 regions, antigen selection seems to have occurred in 60% of ocular adnexal EMZL. The VH3 family was the most commonly expressed germline VH family (54%), followed by VH4 (23%), with biased usage of the latter. Some germline VH1 genes used included DP-8, DP-10, DP-53, DP-63 (VH4.21), and DP-49, which are frequently used by autoantibodies (e.g., rheumatoid factors) and natural autoantibodies. CONCLUSIONS: EMZLs of the ocular adnexa have an Ig H-chain mutation pattern that supports the concept that they represent a clonal expansion of post-germinal-center memory B-cells in most instances. In two thirds of cases, antigen selection may have occurred, and autoantibodies may have a role in their development. (+info)
Prenatal sonographic features of embryonal rhabdomyosarcoma.
We describe a case of fetal rhabdomyosarcoma detected during the third trimester of pregnancy by prenatal sonography. At 33 weeks' gestation, sonography performed because of suspected polyhydramnios showed a solid mass of 120 x 54 mm arising from the anterior wall of the fetal thoracic cage. Another mass within the left maxillary area which originated from the left orbital floor was also detected. In the abdomen, there were multiple round masses in and around the liver. As the previous scan at 28 weeks had appeared normal, the multiple masses which became visible and enlarged rapidly in different locations led us to believe that there was fetal cancer. The most likely diagnosis was rhabdomyosarcoma (which was later confirmed), because it is the most prevalent soft-tissue tumor in children and may develop within or outside muscle anywhere in the body and at any age. Two other reported cases which were detected by prenatal ultrasound examination are also discussed. (+info)
Orbital lymphangioma: an analysis of 26 patients.
AIM: To evaluate retrospective data on the clinical findings, histological features, radiological diagnosis, and management outcomes in orbital lymphangioma. METHODS: Data on 26 orbital lymphangioma patients managed over 16 years were re-evaluated. The computed tomograph and magnetic resonance scans and histological slides were reviewed. Parametric techniques were used to assess correlations among clinical, radiological, and histopathological factors. RESULTS: At presentation proptosis was present in 85%, ptosis in 73%, and restrictive eye movements in 46% of patients. The accuracy of the initial radiology interpretations was 77%. 24 cases required one or more surgeries. The mean follow up was 9.2 years (range 1-14 years). 58% of patients developed recurrences. In cases that recurred, motility restriction was significantly more frequent at initial examination than cases without recurrence (p < 0.05). After therapy, 75% of patients were satisfied with their visual function and cosmetic appearance. CONCLUSIONS: Conservative management of orbital lymphangioma with multiple partial resections may achieve satisfactory results. (+info)
Cavernous hemangiomas of the orbit: MR imaging.
PURPOSE: To describe the MR imaging findings in eight patients with cavernous hemangioma of the orbit. METHODS: CT, MR imaging and echographic studies of eight patients with cavernous hemangioma localized in the orbit were reviewed. All patients presented with a progressive symptomatology: in seven cases with a painless proptosis, in one case with a failing of visual acuity of the concerned eye. The patients were examined with T2- and T1-weighted spin echo sequences, before and after intravenous administration of Gadolinium*, in axial, coronal and sagittal planes. In seven patients, a fat saturation prepulse was given after the Gd-enhanced study. Two patients were also examined with CT scan, with and without intravenous contrast administration. Three patients underwent a Doppler color-coded transorbital sonography. The analyzed criteria were: location, form, margins, size, signal or density. Seven patients underwent surgery with pathologically proved cavernous hemangioma. In one patient, therapy was conservative, because of the absence of significant clinical complaints. RESULTS: In all cases, MRI showed a well-defined intraconal mass. The lesions were homogeneous, isointense to muscle on the T1-weighted sequence and hyperintense to muscle on the T2-weighted sequences. In five cases, a peripheral rim, hypointense to the mass on the T1- and T2-weighted sequences could be observed. After Gadolinium*, six lesions showed initial central patchy enhancement. On the three following T1-Gadolinium* sequences, these lesions showed total and homogeneous filling. In two patients, the lesions showed immediate homogeneous enhancement. On CT, the orbital masses were spontaneously hyperdense, with associated focus of microcalcifications. On echography, the lesions appeared hyperechogenic, heterogeneous, with individualization of small areas of very slow flow. CONCLUSION: From the analysis of the MR appearance of an intraconal, well-defined mass, associating homogeneous signal, isointense to muscle on T1-weighted sequence, hyperintense on T2-weighted sequence, and especially progressive filling on Gd-enhanced sequences, the diagnosis of cavernous hemangioma may be highly suggestive, in a patient presenting a painless progressive proptosis. (+info)
Phase II window of idarubicin in children with extraocular retinoblastoma.
PURPOSE: The aim of this study was to evaluate in an upfront phase II study the response to idarubicin in children with extraocular retinoblastoma. PATIENTS AND METHODS: The starting dose of idarubicin was 15 mg/m(2)/d (days 1 and 2) weeks 0 and 3. After an interim evaluation, the dose was reduced to 10 mg/m(2)/d (days 1 and 2) weeks 0 and 3 because of hematopoietic toxicity. Response was evaluated at week 6. RESULTS: At the Hospital JP Garrahan (Buenos Aires, Argentina), 10 patients (five bilateral) were entered onto the study from 1995 to 1998. A total of 19 cycles were administered. Extraocular sites included orbit (n = 10), bone marrow (n = 3), bone (n = 1), lymph node (n = 1), and CNS (n = 1). The response rate was 60% (95% confidence interval, 30% to 90%). One complete response was achieved, in addition to five partial responses, two cases of stable disease, and two cases of progressive disease. All patients with bone marrow involvement achieved complete clearance of tumor cells. The patient with CNS disease had progressive disease. All patients had severe hematopoietic toxicity (grade 4 neutropenia and grade 3/4 thrombocytopenia after most cycles). Other toxicities included grade 2 diarrhea in 30%. No echocardiographic changes were detected. CONCLUSION: Idarubicin is active in extraocular retinoblastoma. The activity of this drug should be explored in future phase III studies. (+info)
Combined fat- and water-suppressed MR imaging of orbital tumors.
BACKGROUND AND PURPOSE: The use of a high-resolution T2-weighted MR sequence, which suppresses signal from both fat and water, has been shown to be highly effective for depicting areas of inflammatory damage within the optic nerve. The ability of this sequence to show neoplastic and inflammatory orbital lesions, which may mimic neuritis, is unknown. This study was designed to examine the characteristics of such a sequence for the investigation of orbital mass lesions. METHODS: Twenty-eight patients with known or suspected mass lesions of the orbit and six healthy volunteers were recruited for study. Imaging was performed with a 1.5-T MR unit. Participants were examined by selective partial inversion recovery (SPIR) sequences with T2-weighted fast spin-echo acquisition, selective partial inversion recovery/fluid attenuated inversion recovery (SPIR/FLAIR) sequences with fast spin-echo acquisition, short tau inversion recovery (STIR) sequences with fast spin-echo acquisition, and SPIR sequences with contrast-enhanced T1-weighted fast spin-echo acquisition. Two neuroradiologists, using a randomised, blinded method, scored images for lesion presence and extent. Lesion extent was defined as the number of images with visible abnormality, and was compared with the standard of reference established at a later date by consensus review of all imaging sequences. The ability of the sequences to show the presence and extent of pathologic lesions was compared. RESULTS: The SPIR/FLAIR sequence showed both the presence and extent of orbital masses significantly better than did either STIR or T2-weighted SPIR sequences (P<.01 and P<.001, respectively). Contrast-enhanced T1-weighted SPIR images ranked better than SPIR/FLAIR images, although the difference failed to reach statistical significance. In the orbital apex, the SPIR/FLAIR technique was superior to all other techniques used. This reflected its ability to distinguish enhancing, pathologic lesions from enhancing, normal anatomy. CONCLUSION: SPIR/FLAIR is an appropriate screening technique for orbital masses and offers significant advantages over currently used fat-suppressed sequences for the investigation of orbital disease. (+info)
Recurrent proptotic diplopia due to congestive expansion of cavernous haemangioma with relapsing right-sided cardiac failure.
A 75-year-old man with a recent history of pulmonary embolism, presented with collapse followed by a gran mal seizure and right-sided non-pulsatile proptosis. On recovery, he had diplopia on lateral and upward gaze and signs of congestive cardiac failure. Further pulmonary embolism was proven by lung scintigraphy. Computed tomography of his orbits confirmed a contrast-enhancing space-occupying lesion of the medial wall of the right orbit, with no intracranial abnormality. The patient was investigated for metastatic tumour as a possible cause of the space-occupying lesion and the unprovoked thromboembolic event, but no evidence of malignancy was found. The orbital lesion was not biopsied because of the risk of bleeding from anticoagulation. Three weeks later, the patient represented with recurrent cardiac failure, proptosis, and diplopia. A transorbital ultrasound confirmed an encapsulated, well-defined vascular lesion, with typical appearances and Doppler flow characteristics of a cavernous haemangioma. Diuretic therapy abolished the proptosis and diplopia in tandem with relief of the cardiac failure. This is the first description of recurrent proptosis with diplopia due to recurrent congestive expansion of an orbital cavernous haemangioma. (+info)
Unusual mode of spread and presentation of meningioma: a case report.
Although rare, extracranial extension of a meningioma has been well documented. An interesting natural history of neglected meningioma with skull vault hyperostosis and predominantly extracranial extension is described. Following surgical resection of the highly vascular meningioma, the patient developed fatal coagulopathy. (+info)