{"id":3501968,"date":"2022-08-06T10:21:51","date_gmt":"2022-08-06T14:21:51","guid":{"rendered":"https:\/\/myendoconsult.com\/learn\/?p=3501968"},"modified":"2023-03-16T04:56:04","modified_gmt":"2023-03-16T09:56:04","slug":"hereditary-paraganglioma-pheochromocytoma-syndromes","status":"publish","type":"post","link":"https:\/\/myendoconsult.com\/learn\/hereditary-paraganglioma-pheochromocytoma-syndromes\/","title":{"rendered":"Hereditary Paraganglioma Pheochromocytoma Syndromes"},"content":{"rendered":"

Hereditary paraganglioma-pheochromocytoma (PPGLs)<\/strong> syndromes refers to paragangliomas<\/strong> (tumors derived from neuroendocrine tissues found along the paravertebral axis extending from the skull base to the pelvis) and by pheochromocytomas<\/strong> (paragangliomas of the adrenal medulla<\/a>).<\/p>\n

Although paragangliomas can produce hormones<\/a>, they do not produce metanephrine (a metabolite of epinephrine) due to the lack of paracrine stimulation by\u00a0PNMT (requires cortisol)<\/a>. Conversely, pheochromocytomas can produce either metanephrine or normetanephrine (a metabolite of norepinephrine).<\/p>\n

\"Paraganglioma<\/p>\n

Comparison of sympathetic and parasympathetic paragangliomas<\/h2>\n\n\n\n\n\n\n
Extra-adrenal parasympathetic paragangliomas<\/strong><\/td>\n\u00a0Extra-adrenal sympathetic paragangliomas\u00a0<\/strong><\/td>\n<\/tr>\n
Location: \u00a0skull base, neck, and upper mediastinum<\/td>\nLocation : lower mediastinum, abdomen, and pelvis<\/td>\n<\/tr>\n
Majority of them are nonsecretory (95%)<\/td>\nMajority of them are secretory<\/td>\n<\/tr>\n
Low malignancy risk<\/td>\nHigh malignancy risk<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u00a0<\/em><\/p>\n

Genetic Testing of paragangliomas and pheochromocytomas<\/h2>\n

All patients with PPGLs should undergo genetic testing since hereditary PPGLs are typically inherited in an autosomal dominant fashion. Although patients usually inherit a pathogenic variant from a parent, some probands may have a de novo<\/em> pathogenic variant (uninherited spontaneous mutation). \u00a0<\/em><\/p>\n

SDHA, SDHB, SDHC<\/em> and SDHD<\/em> (designated as the SDHx syndrome complex) represents four nuclear genes that encode the subunits of the mitochondrial enzyme succinate dehydrogenase (SDH).<\/p>\n

Mnemonics for SDHx<\/h2>\n

SDHB = \u201cBAD\u201d<\/strong> : A high risk of malignancy and extra-adrenal sympathetic PPGLs<\/p>\n

SDHD = \u201cDAD\u201d<\/strong> : Parent of origin effects (Deleterious effects from Dad)<\/p>\n

What is the meaning of Parent of origin effects?<\/h2>\n

This refers to the risk of expressing a pathogenic variant based on the parent from which a mutation is inherited. A patient with an SDHD pathogenic variant inherited from their father stands a high risk of developing PPGL. Conversely, the risk is significantly low, but not negligible, if an SDHD mutation is inherited from a mother.<\/p>\n","protected":false},"excerpt":{"rendered":"

Hereditary paraganglioma-pheochromocytoma (PPGLs) syndromes refers to paragangliomas (tumors derived from neuroendocrine tissues found along the paravertebral axis extending from the skull base to the pelvis) and by pheochromocytomas (paragangliomas of the adrenal medulla). Although paragangliomas can produce hormones, they do not produce metanephrine (a metabolite of epinephrine) due to the lack of paracrine stimulation by\u00a0PNMT […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[92],"tags":[],"class_list":["post-3501968","post","type-post","status-publish","format-standard","hentry","category-endocrine-reviews-adrenal","post-wrapper","thrv_wrapper"],"_links":{"self":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/posts\/3501968","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/comments?post=3501968"}],"version-history":[{"count":43,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/posts\/3501968\/revisions"}],"predecessor-version":[{"id":4415719,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/posts\/3501968\/revisions\/4415719"}],"wp:attachment":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/media?parent=3501968"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/categories?post=3501968"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/tags?post=3501968"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}