Carotid body tumors in inhabitants of altitudes higher than 2000 meters above sea level

Rodrı́guez-Cuevas, Sergio; López-Garza, Juan; Labastida-Almendaro, Sonia

doi:10.1002/(sici)1097-0347(199808)20:5<374::aid-hed3>3.0.co;2-v

Cited by 181 publications

(122 citation statements)

References 22 publications

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“…Patients are generally asymptomatic as HNPGL are non-functional though may present with a palpable neck mass. There is a female predominance (2:1), which markedly increases when PGLs occur in high altitude societies [31,32]. The observation of bilateral and/or multifocal PGL is noted in up to 25% of carotid body PGLs and aligns with familial occurrence of predominantly SDHD mutations [33][34][35][36][37].…”

Section: Hnpgl Sites Of Involvementmentioning

confidence: 99%

Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Paragangliomas

Williams

Tischler

2017

Head and Neck Pathol

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Section: Hnpgl Sites Of Involvementmentioning

confidence: 99%

Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Paragangliomas

Williams

Tischler

2017

Head and Neck Pathol

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“…This suggests a critical role for HIF-1a and/or HIF-2a and hypoxia in these tumors, although their precise role in tumor development remains unclear. A link between PCC/PGL and hypoxia is also consistent with the early and intriguing findings that persons exposed to chronic hypoxia, due to dwelling on high altitude, appear to have a higher prevalence of PGL compared with those living at sea level (Saldana et al 1973, Rodriguez-Cuevas et al 1998.…”

Section: Hif-a Regulation and Pseudohypoxiamentioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

315

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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“…In addition, Rodrıguez-Cuevas et al [10] followed 41 patients with carotid body tumors (CBT) who did not receive any treatment after the diagnosis was established. The mean size of these tumors was 5.3 cm, and during a median follow-up of 47 months, no patient reported additional symptoms, accelerated enlargement of the tumor, or metastasis.…”

mentioning

confidence: 53%

Modern trends in the management of head and neck paragangliomas

Suárez

Fernández-Álvarez

Neumann³

et al. 2015

Eur Arch Otorhinolaryngol

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Head and neck paragangliomas (HNPG) are rare, mostly benign neoplasms that usually exhibit an indolent growth pattern although they can be associated with compression and infiltration of adjacent cranial nerves and, depending on the site of origin, also bone and intracranial structures. Less than 5 % of the tumors are considered malignant based on the presence of metastases and not local invasion. Carotid body tumors accounts for two-thirds of HNPG, whereas vagal paragangliomas are showing the highest tendency toward malignant character.Despite the usual treatment of benign tumors is surgery, the risks of the treatment-related complications and potential deterioration of quality of patient's live, however, should not be greater than the risk brought by the tumor in its natural course. Watchful waiting and radiotherapy are widely accepted in the management of vestibular schwannomas, a tumor that is usually indolent but, like HNPG, also has an unpredictable growth pattern. Review of different national tumor registry databases revealed that in the United States there has been a significant shift in management of vestibular schwannomas over a decade, with increasing tendency toward observation and radiotherapy, whereas the proportion of operated cases declined to near a half of the total [1][2][3]. Similar studies on the trends of treatment are lacking in HNPG. Systematic analysis of the literature has shown that most of the HNPG have been treated surgically, with no data on the impact of observation in the management of these tumors [4,5]. ''Wait and see'' policyLikewise, due to prevailingly indolent nature HNPG with low growth potential the decision on optimal treatment in HNPG is delicate, even more in view of the facts that tumor growth in individual paraganglioma (PG) case cannot be predicted and mortality caused directly by the tumor is a rare event that occurs in only 1-4 % of patients [4]. According to Jansen et al. [6], the median increase in size in a series of 48 HNPG was 0.83 mm/year. A volume increase of 20 % was noted in 60 % of the tumors, with a median increase in dimension in this subgroup of 1 mm/ year. In addition, tumor doubling time has been universally estimated as low, ranging between 4.2 and 13.8 years for HNPG [7,8].

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Carotid body tumors in inhabitants of altitudes higher than 2000 meters above sea level

Cited by 181 publications

References 22 publications

Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Paragangliomas

Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Paragangliomas

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Modern trends in the management of head and neck paragangliomas

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