Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland

McNeil, Alan; Blok, Barbara; Koelmeyer, Timothy D.; Burke, Michael P.; Hilton, J. M. N.

doi:10.1111/j.1445-5994.2000.tb04358.x

Cited by 174 publications

(81 citation statements)

References 12 publications

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“…, autopsy series have revealed a much higher prevalence (McNeil et al 2000). Phaeochromocytomas and paragangliomas can synthesise, store and secrete catecholamines causing a variety of clinical symptoms (functioning tumours); a number of them, particularly parasympathetic paragangliomas, may be non-functioning (Kaltsas et al 2003).…”

Section: )mentioning

confidence: 99%

The diagnosis and management of malignant phaeochromocytoma and paraganglioma

Chrisoulidou

Kaltsas²,

Ilias³

et al. 2007

Endocr Relat Cancer

293

219

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Malignant phaeochromocytomas are rare tumours accounting for w10% of all phaeochromocytomas; the prevalence of malignancy among paragangliomas is higher, especially those associated with succinate dehydrogenase subunit B gene mutations. Although a subset of these tumours has metastatic disease at initial presentation, a significant number develops metastases during follow-up after excision of an apparently benign tumour. Clinical, biochemical and histological features cannot reliably distinguish malignant from benign tumours. Although a number of recently introduced molecular markers have been explored, their clinical significance remains to be elucidated from further studies. Several imaging modalities have been utilised for the diagnosis and staging of these tumours. Functional imaging using radiolabelled metaiodobenzylguanidine (MIBG) and more recently, 18 F-fluorodopamine and 18 F-fluorodopa positron emission tomography offer substantial sensitivity and specificity to correctly detect metastatic phaeochromocytoma and paraganglioma and helps identify patients suitable for treatment with radiopharmaceuticals. The 5-year mortality rate of patients with malignant phaeochromocytomas and paragangliomas greater than 50% indicates that there is considerable room for the improvement of currently available therapies. The main therapeutic target is tumour reduction and control of symptoms of excessive catecholamine secretion. Currently, the best adjunctive therapy to surgery is treatment with radiopharmaceuticals using 131 I-MIBG; however, this is very rarely curative. Chemotherapy has been used for metastatic disease with only a partial and mainly palliative effect. The role of other forms of radionuclide treatment either alone or in combination with chemotherapy is currently evolving. Ongoing microarray studies may provide novel intracellular pathways of importance for proliferation/cell cycle control, and lead to the development of novel pharmacological agents.

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Section: )mentioning

confidence: 99%

The diagnosis and management of malignant phaeochromocytoma and paraganglioma

Chrisoulidou

Kaltsas²,

Ilias³

et al. 2007

Endocr Relat Cancer

293

219

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“…Their prevalence is unknown but has been estimated to lie between 1:6500 and 1:2500 in the United States (Chen et al 2010). Autopsy series have revealed a higher prevalence of about 1:2000, suggesting that many tumors remain undiagnosed (McNeil et al 2000). The annual incidence has been reported to be two to ten cases per million (Beard et al 1983, Stenstrom & Svardsudd 1986, Ariton et al 2000.…”

Section: Introductionmentioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

312

321

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Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC-PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney-Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes including KIF1Bb, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

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“…However, an Australian autopsy series revealed a prevalence of 0.05% in this unselected population (2) suggesting that many tumours are overseen in clinical practice. Phaeochromocytoma may occur sporadically or as part of a hereditary syndrome.…”

Section: Introductionmentioning

confidence: 99%

Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma

Kopetschke¹,

Slisko²,

Kilisli³

et al. 2009

European Journal of Endocrinology

180

114

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Context: Adrenal and extra-adrenal phaeochromocytoma are chromaffin cell-derived tumours that are discovered due to classical symptom triad with headache, sweating and palpitations combined with persistent or paroxysmal hypertension. However, an increasing proportion of phaeochromocytoma seems to be discovered incidentally upon abdominal imaging. Objective: To specify the exact circumstances of discovery of adrenal and extra-adrenal phaeochromocytoma. Design and patients: Four German endocrine centres participated in this retrospective study. Medical records of 201 patients with adrenal and extra-adrenal phaeochromocytoma who were diagnosed between 1973 and 2007 were analyzed. Results: The typical triad of symptoms was found only in 10% of cases. Ten percent of patients presented were without clinical symptoms and 6.1% were normotensive. Documented blood pressure peaks occurred in 44.1% of cases. In 24 patients (12.2%), phaeochromocytoma was malignant. Before 1985, !10% of cases were incidentally discovered, whereas thereafter the frequency was O25% (29.4% of the total study population). Patients with incidentally detected phaeochromocytoma were significantly older (53.1G1.9 vs 47.0G1.3 years; P!0.05) and often had less blood pressure peaks (37.0 vs 70.7%; P!0.001) than patients in whom the diagnosis was suspected on clinical grounds. Of phaeochromocytomas 94.4% were intra-adrenal tumours, of which 12.9% were bilateral. Bilateral tumours were significantly smaller than unilateral tumours (36.6G14.7 vs 52.5G34.3 mm; P!0.05), whereas extra-adrenal tumours had a mean diameter of 52.6G28.7 mm. Conclusions: Owing to better availability and accessibility of imaging procedures, the number of incidentally discovered phaeochromocytoma is increasing and reaches nearly 30% in our study population. Every adrenal incidentaloma should be investigated for the presence of phaeochromocytoma.

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Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland

Abstract: Even though phaeochromocytomas are uncommon, we fail to diagnose a significant number of these tumours during life. Methods are needed to increase the detection of phaeochromocytoma and to distinguish functional and non-functional tumours.

Cited by 174 publications

References 12 publications

The diagnosis and management of malignant phaeochromocytoma and paraganglioma

The diagnosis and management of malignant phaeochromocytoma and paraganglioma

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma

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