Radionuclide angiography and surgery for familial bilateral chemodectomas

Hamilton, Jeremy; D'Sa, A.A.B. Barros

doi:10.1016/s0950-821x(87)80005-1

Cited by 8 publications

(9 citation statements)

References 29 publications

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“…11 Such screening comprises clinical examination (although reports suggest this can be unreliable), 11,12 CT, colour duplex imaging, MRI, whole body positron emission tomography, metaiodobenzylguanidine scintigraphy and genetic testing. 11 Such screening comprises clinical examination (although reports suggest this can be unreliable), 11,12 CT, colour duplex imaging, MRI, whole body positron emission tomography, metaiodobenzylguanidine scintigraphy and genetic testing.…”

Section: Discussionmentioning

confidence: 99%

Recurrent familial malignant carotid body tumour presenting with lymph node metastasis: case report, and review of diagnosis and management of familial carotid body tumours

2010

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This case report demonstrates the need for extra vigilance to enable early disease detection in the familial setting of carotid body tumour, in order to reduce the surgical morbidity associated with disease progression. In addition, our report highlights the atypical aspects of presentation in the familial setting, together with the difficulty and lack of standardisation regarding monitoring of the disease.

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Section: Discussionmentioning

confidence: 99%

Recurrent familial malignant carotid body tumour presenting with lymph node metastasis: case report, and review of diagnosis and management of familial carotid body tumours

2010

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“…A review of the literature finds 66 patients reported with bilateral familial carotid body tumors 4–29 and only two patients with bilateral nonfamilial carotid body tumors. 30,31 Seven patients have been reported with familial bilateral carotid body tumors and a unilateral glomus tumor 4,32–35 ;our patient is the eighth reported.…”

Section: Introductionmentioning

confidence: 99%

Genetic Analysis in the Diagnosis of Familial Paragangliomas

et al. 2000

The Laryngoscope

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Objectives In the management of two related patients with multicentric glomus jugulare tumors, given the incidence of 1:30,000 with approximately 20% familial cases, our objective was to review the genetic characteristics and inheritance patterns of these tumors and to determine what molecular genetic screening possibilities exist for the phenotypically normal family members. In addition, our aim was to review the incidence of various multicentric paraganglioma (PGL) tumor location combinations. Methods Molecular genetic linkage analysis testing was performed on the 2 patients and 14 other unaffected family members. We report the results of this screening and review the literature on the incidence and genetics of paragangliomas. Results The inheritance pattern in the literature demonstrates autosomal dominant transmission with maternal imprinting (inactivation). The proclivity for multicentric origin increases to 26% in familial cases, as reflected in our patients. In addition to the two patients, four unaffected family members demonstrated the presence of the disease haplotype at chromosome band 11q23, which indicates a very high likelihood of developing a paraganglioma, given the highly penetrant nature of the disease. Conclusions It is clear that the familial PGL gene locus is situated at chromosome 11q23. The gene itself and its exact degree of penetrance, however, still await identification. Since early detection of paragangliomas reduces the incidence of morbidity and mortality, genotypic analysis as a screening tool in families of affected patients should play a front‐line diagnostic role, leading to more timely and cost‐effective patient management.

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“…Scintigraphy of these tumors initially comprised simple radionuclide angiography, used in one series to screen kindred members in familial paraganglionoma [1,8]. The neural crest origin of the tumors, and the presence of biogenic amine uptake-1 and intracellular storage, was later exploited using MIBG.…”

Section: Discussionmentioning

confidence: 99%

“…Cervical paragangliomas are uncommon neoplasms derived from neural crest cells, and are also referred to as chemodectomas, carotid body tumors, glomus vagale tumors, or glomus tympanicum tumors, depending upon their structure of origin. Bilaterality and association with paragangliomas elsewhere are more common in the setting of familial and endocrine neoplasia syndromes [1]. Distant metastases (12% of carotid body tumors) and catecholamine synthesis (1% of paragangliomas) are rare [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…Bilaterality and association with paragangliomas elsewhere are more common in the setting of familial and endocrine neoplasia syndromes [1]. Distant metastases (12% of carotid body tumors) and catecholamine synthesis (1% of paragangliomas) are rare [1,2]. The usual history of these tumors is of relentless local growth, eventually producing symptoms by mass effect and progressive compromise of local neurovascular structures [3].…”

Section: Introductionmentioning

confidence: 99%

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FDG PET imaging of paragangliomas of the neck: comparison with MIBG SPET

et al. 1995

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Two patients with cervical paragangliomas underwent positron emission tomography (PET) with 2-[18F]-fluoro-2-deoxy-D-glucose (FDG). There was marked tumor uptake and retention of FDG. Adjacent salivary gland accumulation of FDG was minimal, though quite prominent with meta-iodobenzylguanidine. FDG PET offers another potentially useful approach to functional imaging of these uncommon tumors, independent of the presence of specific amine uptake mechanisms or cell surface receptors required by other scintigraphic techniques.

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Radionuclide angiography and surgery for familial bilateral chemodectomas

Cited by 8 publications

References 29 publications

Recurrent familial malignant carotid body tumour presenting with lymph node metastasis: case report, and review of diagnosis and management of familial carotid body tumours

Recurrent familial malignant carotid body tumour presenting with lymph node metastasis: case report, and review of diagnosis and management of familial carotid body tumours

Genetic Analysis in the Diagnosis of Familial Paragangliomas

FDG PET imaging of paragangliomas of the neck: comparison with MIBG SPET

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