{"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…<\/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"],"_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}]}}