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Ocular oncologists require a strong indication for intraocular biopsy before the procedure can be performed because it carries a risk for serious eye complications and the dissemination of malignant cells. The purpose of this review is to evaluate the extent to which this restricted practice is supported by evidence from previous reports and to outline our main indications and contraindications. The different intraocular biopsy techniques in the anterior and posterior segment are discussed with a focus on our preferred method, fine‐needle aspiration biopsy (FNAB). In the literature, complications are typically under‐reported, which reduces the possibilities of evaluating the risks correctly and of making fair comparisons with other biopsy methods. In FNAB, the exact placement of the needle is critical, as is an accurate assessment of the size of the lesion. Fine‐needle aspiration biopsy is usually not a reliable diagnostic tool in lesions < 2 mm in thickness. It is very advantageous to have a cytopathologist present in the operating theatre or close by. This ensures adequate sampling and encourages repeated biopsy attempts if necessary. This approach reduces false negative results to < 3%. Adjunct immunocytochemistry is documented to increase specificity and is essential for diagnosis and management in about 10% of cases. In some rare pathological processes the diagnosis depends ultimately on the identification of specific cell markers. An accurate diagnosis may have a decisive influence on prognosis. The cytogenetic prognostications made possible after FNAB are reliable. Biopsy by FNA has a low complication rate. The calculated risk for retinal detachment is < 4%. Intraocular haemorrhage is frequently observed, but clears spontaneously in nearly all cases. Only a single case of epibulbar seeding of malignant cells at the scleral pars plana puncture site of transvitreal FNAB has been documented. Endophthalmitis has been reported and adequate standard preoperative preparation is obligatory. An open biopsy is still an option in the anterior segment, but has been abandoned in the posterior segment. Although vitrectomy‐based procedures are becoming increasingly popular, we recommend using FNAB as part of a stepwise approach. A vitrectomy‐assisted biopsy should be considered in cases where FNAB fails. In any adult patient with suspected intraocular malignancy in which enucleation is not the obvious treatment, the clinician should strive for a diagnosis based on biopsy. When the lesion is too small for biopsy or the risks related to the procedure are too great, it is reasonable to be reluctant to biopsy. The standards applied in the treatment of intraocular malignant diseases should be equivalent to those in other fields of oncology. Our view is controversial and contrary to opinion that supports current standards of care for this group of patients.
ABSTRACT.Purpose: To evaluate the fine needle aspiration biopsy (FNAB) as a diagnostic tool in cases where it was impossible to make a definitive diagnosis with noninvasive techniques. Method: 80 consecutive patients with inconclusive diagnoses were examined by FNAB prior to decision of treatment. Biopsies were performed through a transscleral route in 50 eyes, an anterior chamber route in 16 eyes and a transvitreal approach in 14 eyes. The consequences of FNAB were analysed retrospectively. Results: FNAB confirmed malignancy in 59 eyes. Inconclusive material was obtained from 5 eyes judged clinically to be malignant disorders. One melanoma was misinterpreted as being a metastasis. In 47.5% of our patients this procedure altered the therapeutic plan and 25 patients were spared enucleation. The biopsy material was correctly diagnosed as benign in 16 cases. Conclusion: In eyes where the diagnosis remained uncertain after non-invasive tests, FNAB gave important information which greatly influenced our choice of treatment. FNAB contained sufficient tissue elements for cytological diagnosis in 77 eyes. Cytopathological interpretation failed once in relation to tumour type. The procedure of FNAB can be recommended for use in ambiguous tumour cases of the eye. Probably it should only be used in tumour centres with adequate cytology service.
We describe the clinical findings and natural history of an autosomal dominant form of partial lipodystrophy found in four affected individuals from three generations in the same family. The lipodystrophy was present from infancy/early childhood, involved primarily the face and local areas on the buttocks, and was nonprogressive. Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, retarded bone age, and hypotrichosis. An affected woman developed insulinopenic diabetes mellitus at 39 yr and another had glucose intolerance at 55 yr.
This study confirms that children with CCBM have a more favorable survival than young adults 18 to 25 years of age, adjusting for TNM stage and gender. The association between gender and survival varies between age groups.
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Purpose: Our objective was to introduce immunomagnetic separation (IMS) in ocular research by evaluating the possibility of detecting tumour cells in bone marrow (BM) and peripheral blood (PB) samples and validating the captured cells as melanocytic cells.
Methods: Mononuclear cell (MNC) fractions isolated from BM and PB in uveal melanoma patients were examined for tumour cells using our IMS method. Sheep‐anti‐mouse IgG antibody‐coated super paramagnetic particles were conjugated to an anti‐melanoma antibody. Microscopy of the magnetic fraction isolated from MNCs was performed to identify and count the number of bead‐rosetted cells. The finding of at least two rosettes with coated beads in a 20‐μl fraction of a sample was registered as a positive test. The melanocytic nature of the tumour cells was ascertained with a double labelling procedure using fluorescent microparticles.
Results: Using IMS in a study of 328 patients, tumour cells were at initial diagnosis found in BM and PB in 29.9% and 1.6% of cases, respectively. In positive samples, a median of 56 tumour cells (range 2–500) were identified. The captured cells were documented to be of melanocytic origin by the simultaneous binding of fluorescent beads coated with another melanoma‐associated antibody.
Conclusions: The IMS method was sensitive and efficient in the detection of occult melanoma tumour cells in BM. The validity of the immunomagnetic technique was strengthened by verifying the melanocytic characteristics of the isolated cells. The IMS procedure identifies intact, vital tumour cells, permitting further molecular characterization, an advantage which makes this method attractive for extended use. The clinical relevance of the findings will be further investigated in follow‐up studies with repeated sampling and characterization of the isolated tumour cells.
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