Chronic Hypoxemia and Paraganglioma: A Rare Case and Discussion of Potential Mechanisms

Subedi, Ramesh; Judson, Marc A.

doi:10.1097/maj.0000000000000367

Cited by 2 publications

(3 citation statements)

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“…In this setting, PCC/PGL can be single or multiple, benign or malignant, and these patients may also present with acquired polycythemia, secondary to chronic hypoxia [Yoshihara et al, 2008;Subedi and Judson, 2014]. In addition to the chronic hypoxic stimulus, PCC/PGL may develop in these patients due to abnormalities in genes responsible for the function of neural crest cells, which could be involved in both PCC/ PGL and the formation of the heart outflow tracts [Kita et al, 2003].…”

Section: Chronic Hypoxemiamentioning

confidence: 99%

“…Therefore, clinicians should be aware of the PCC/PGL risk in this set of patients, prompting then a careful examination and screening for PCC/PGL [Cerecer-Gil et al, 2010;Subedi and Judson, 2014].…”

Section: Chronic Hypoxemiamentioning

confidence: 99%

“…As a consequence, carotid body chief cell and chromaffin cell hyperplasia is promoted and HIF is abnormally stabilized, allowing the development of PCC/PGL [Diez et al, 1999;Subedi and Judson, 2014].…”

Section: Chronic Hypoxemiamentioning

confidence: 99%

See 2 more Smart Citations

Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas

Amorim-Pires

Peixoto²,

Lima³

2016

Cytogenet Genome Res

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Pheochromocytomas (PCC) and sympathetic paragangliomas (PGL) are rare neuroendocrine tumors, which derive from chromaffin cells occurring in the adrenal medulla and extra-adrenal sympathetic paraganglia. PCC and PGL are often benign, catecholamine-producing tumors, responsible for a myriad of symptoms that may be potentially hazardous to the patient. In contrast, nonsecreting parasympathetic PGL, derived from chief cells, develop mainly in the head and neck region. Although PCC/PGL are more commonly sporadic tumors, germline mutations are present in up to 40% of the patients, ranking these tumors among those with the highest degree of heritability. PCC/PGL are associated with a variety of hereditary syndromes, comprising genetic alterations in RET, NF1, VHL, and SDHx genes, the last 2 being involved in regulating the hypoxia pathway. Additional hypoxia pathway-related genes have been recently associated with PCC/PGL development, namely EGLN1 and EPAS1. Thus, dysregulation of the hypoxia pathway seems to play a major role in PCC/PGL development, in particular through the stabilization of hypoxia-inducible factors and the appearance of a pseudohypoxia signature. This article is focused on reviewing the tumorigenic mechanisms resultant from VHL, SDHx, EGLN1, and EPAS1 mutations, as well as the associated tumors, namely PCC/PGL, and extra manifestations such as polycythemia. In the light of the recent discoveries, hypoxia pathway molecules appear as key players in PCC/PGL development.

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Section: Chronic Hypoxemiamentioning

confidence: 99%

Section: Chronic Hypoxemiamentioning

confidence: 99%