Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)

Pheochromocytomas and paragangliomas (PPGLs) are tumors arising from the adrenal medulla and sympathetic/parasympathetic paraganglia, respectively. According to Th e Cancer Genome Atlas (TCGA), approximately 40% of PPGLs are due to germ line mutations in one of 16 susceptibility genes, and a further...

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Autores principales: Khatami Fatemeh, Mohammadamoli Mahsa, Tavangar Seyed Mohammad
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Publicado: Sciendo 2018
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Acceso en línea:https://doaj.org/article/850f599683ee401bad1d6bed45d10353
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spelling oai:doaj.org-article:850f599683ee401bad1d6bed45d103532021-12-02T17:49:32ZGenetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)1336-032910.2478/enr-2018-0006https://doaj.org/article/850f599683ee401bad1d6bed45d103532018-01-01T00:00:00Zhttps://doi.org/10.2478/enr-2018-0006https://doaj.org/toc/1336-0329Pheochromocytomas and paragangliomas (PPGLs) are tumors arising from the adrenal medulla and sympathetic/parasympathetic paraganglia, respectively. According to Th e Cancer Genome Atlas (TCGA), approximately 40% of PPGLs are due to germ line mutations in one of 16 susceptibility genes, and a further 30% are due to somatic alterations in at least seven main genes (VHL, EPAS1, CSDE1, MAX, HRAS, NF1, RET, and possibly KIF1B). Th e diagnosis of malignant PPGL was straight forward in most cases as it was defined as presence of PPGL in non-chromaffin tissues. Accordingly, there is an extreme need for new diagnostic marker(s) to identify tumors with malignant prospective. Th e aim of this study was to review all suggested genetic and epigenetic alterations that are remarkably different between benign and malignant PPGLs. It seems that more than two genetic mutation clusters in PPGLs and other genetic and methylation biomarkers could be targeted for malignancy discrimination in different studies.Khatami FatemehMohammadamoli MahsaTavangar Seyed MohammadSciendoarticlepheochromocytomaparagangliomageneticepigeneticmethylationDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENEndocrine Regulations, Vol 52, Iss 1, Pp 41-54 (2018)
institution DOAJ
collection DOAJ
language EN
topic pheochromocytoma
paraganglioma
genetic
epigenetic
methylation
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
spellingShingle pheochromocytoma
paraganglioma
genetic
epigenetic
methylation
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
Khatami Fatemeh
Mohammadamoli Mahsa
Tavangar Seyed Mohammad
Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)
description Pheochromocytomas and paragangliomas (PPGLs) are tumors arising from the adrenal medulla and sympathetic/parasympathetic paraganglia, respectively. According to Th e Cancer Genome Atlas (TCGA), approximately 40% of PPGLs are due to germ line mutations in one of 16 susceptibility genes, and a further 30% are due to somatic alterations in at least seven main genes (VHL, EPAS1, CSDE1, MAX, HRAS, NF1, RET, and possibly KIF1B). Th e diagnosis of malignant PPGL was straight forward in most cases as it was defined as presence of PPGL in non-chromaffin tissues. Accordingly, there is an extreme need for new diagnostic marker(s) to identify tumors with malignant prospective. Th e aim of this study was to review all suggested genetic and epigenetic alterations that are remarkably different between benign and malignant PPGLs. It seems that more than two genetic mutation clusters in PPGLs and other genetic and methylation biomarkers could be targeted for malignancy discrimination in different studies.
format article
author Khatami Fatemeh
Mohammadamoli Mahsa
Tavangar Seyed Mohammad
author_facet Khatami Fatemeh
Mohammadamoli Mahsa
Tavangar Seyed Mohammad
author_sort Khatami Fatemeh
title Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)
title_short Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)
title_full Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)
title_fullStr Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)
title_full_unstemmed Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs)
title_sort genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (ppgls)
publisher Sciendo
publishDate 2018
url https://doaj.org/article/850f599683ee401bad1d6bed45d10353
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AT mohammadamolimahsa geneticandepigeneticdifferencesofbenignandmalignantpheochromocytomasandparagangliomasppgls
AT tavangarseyedmohammad geneticandepigeneticdifferencesofbenignandmalignantpheochromocytomasandparagangliomasppgls
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