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Body Tumour (body + tumour)
Selected AbstractsNovel SDHD germ-line mutations in pheochromocytoma patientsEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 7 2007C. Neumayer Abstract Background,SDHD germ-line mutations predispose to pheochromocytoma (PCC) and paraganglioma (PGL). Material and methods, The incidence and types of SDHD germ-line mutations are determined in 70 patients with apparently sporadic adrenal and extra-adrenal PCC. Results,SDHD sequence variants were identified in the germ line of five patients. Two of three novel mutations were in exon 1 and one in exon 3. One patient had a codon 1 missense mutation (M1K) and a concurrent 3-bp deletion in intron 1. Three of 10 family members had only the exon 1 mutation, whereas one had only the intron 1 mutation. The other exon 1 mutation resulted from a deletion of nucleotides 28,33 with a 12-bp in-frame insertion (c.28_33 del ins TAGGAGGCCCTA). This mutation generated a premature stop codon after codon 9 and was also present in the brother who had a bilateral PCC. The third patient with a carotid body tumour, with an abdominal and a thoracic PGL had a 12-bp deletion in exon 3 (codons 91,94, c.271_282 del). Her father carried the same mutation and had bilateral carotid body tumours. Two further patients, one with six PGL, carried a previously described H50R polymorphism, whose disease-specific relevance is currently unclear. The three patients with bona fide SDHD mutations were younger than those without germ-line mutations. Conclusion,SDHD germ-line mutations are rare in patients with PCC, but their identification is an important prerequisite for the clinical care and appropriate management of affected individuals and their families. [source] Continuous cervical plexus block for carotid body tumour excision in a patient with Eisenmenger's syndromeANAESTHESIA, Issue 12 2006H. G. Jones Summary A patient with Eisenmenger's syndrome presented for removal of a carotid body tumour. Continuous cervical plexus blockade was successfully used to provide peri-operative and postoperative analgesia. The risks and benefits of regional and general anaesthesia in this high risk patient are discussed. [source] A child with a melanocytic ciliary body tumourACTA OPHTHALMOLOGICA, Issue 2009T KIVELÄ [source] Novel SDHD germ-line mutations in pheochromocytoma patientsEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 7 2007C. Neumayer Abstract Background,SDHD germ-line mutations predispose to pheochromocytoma (PCC) and paraganglioma (PGL). Material and methods, The incidence and types of SDHD germ-line mutations are determined in 70 patients with apparently sporadic adrenal and extra-adrenal PCC. Results,SDHD sequence variants were identified in the germ line of five patients. Two of three novel mutations were in exon 1 and one in exon 3. One patient had a codon 1 missense mutation (M1K) and a concurrent 3-bp deletion in intron 1. Three of 10 family members had only the exon 1 mutation, whereas one had only the intron 1 mutation. The other exon 1 mutation resulted from a deletion of nucleotides 28,33 with a 12-bp in-frame insertion (c.28_33 del ins TAGGAGGCCCTA). This mutation generated a premature stop codon after codon 9 and was also present in the brother who had a bilateral PCC. The third patient with a carotid body tumour, with an abdominal and a thoracic PGL had a 12-bp deletion in exon 3 (codons 91,94, c.271_282 del). Her father carried the same mutation and had bilateral carotid body tumours. Two further patients, one with six PGL, carried a previously described H50R polymorphism, whose disease-specific relevance is currently unclear. The three patients with bona fide SDHD mutations were younger than those without germ-line mutations. Conclusion,SDHD germ-line mutations are rare in patients with PCC, but their identification is an important prerequisite for the clinical care and appropriate management of affected individuals and their families. [source] 1251: Diagnosis of adult ophthalmic tumours: role of clinical history, symptoms and signsACTA OPHTHALMOLOGICA, Issue 2010T KIVELÄ Purpose To summarise signs and symptoms useful in diagnosing adult ophthalmic tumours. Methods Personal experience of the author as a member of the European Ophthalmic Oncology Group. Results According to studies from the United Kingdom, Finland and United States, 28-42% of adult patients with intraocular tumours may experience delays because the lesion is either misdiagnosed (e.g. as macular degeneration, naevus, rhegmatogenous retinal detachment) or missed at the initial visit. Of these patients, 72-87% have symptoms attributable to the tumour such as blurred vision, photopsia, floaters, metamorphopsia, and visual field loss. These symptoms can also be caused by many benign conditions (e.g. vitreous detachment) but should not be interpreted as innocent without thorough clinical examination. Signs specific for iris and ciliary body tumours include a tumour mass, sentinel vessels, acquired astigmatism, and cataracts. Choroidal tumours may induce serous retinal detachments, subretinal and vitreous bleedings and, sometimes, lipid exudation. Finally, orange subretinal pigment suggests the diagnosis of a uveal melanoma whereas many drusen point to a long-standing naevus. Conclusion Signs and symptoms of ophthalmic tumours are mostly nonspecific, necessitating an appropriately high level of suspicion and a systematic approach to clinical examination to avoid delayed or missed diagnoses. Earlier diagnosis could be achieved especially if dilated fundus examinations were performed without exception and if all suspicious naevi were referred for a second opinion. [source] Diagnosis of ophthalmic tumoursACTA OPHTHALMOLOGICA, Issue 2009T KIVELÄ Purpose To summarise clinical methods used to diagnose ophthalmic tumours. Methods Personal experience of the author as a member of the European Ophthalmic Oncology Group. Results Conjunctival tumours are excised based on provisional clinical diagnosis or, if they are extensive, atypical or part of systemic disease such as lymphoma, first biopsied to obtain a histopathologic diagnosis. Useful methods to diagnose and stage conjunctival tumours are high frequency ultrasonography (US) or ultrasound biomicroscopy (UBM) to measure their thickness, in vivo confocal microscopy or impression cytology to chart their extent, and exfoliative cytology to get a provisional diagnosis. Ciliary body tumours are visualised by radical biomicroscopy, transillumination and indirect ophthalmoscopy with scleral indentation, supplemented with high frequency US or UBM. Binocular indirect ophthalmoscopy and US form the basis or diagnosing choroidal tumours. In addition to fluorescein and indocyanine green angiography in atypical cases, optical coherence tomography to detect subretinal fluid and autofluorescence to detect orange pigment are useful adjuncts in telling a small melanoma from a naevus. The mnemonic "To Find Small Ocular Melanomas" (from Thickness >2mm, subretinal Fluid, Symptoms, Orange pigment, Margin touching disc) is also useful in this respect. Clinical diagnosis of medium-sized to large melanomas is 99% accurate, whereas a fine needle or vitrectomy biopsy may be necessary to diagnose atypical tumours and is also used for cytogenetic analysis of uveal melanomas. Conclusion Conjunctival tumours are mostly diagnosed histopathologically, whereas diagnosis of uveal tumours is usually based on clinical examination. While clinical diagnosis is usually reliable, biopsy of uveal tumours is increasingly used for prognostic purposes. 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