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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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) |
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pheochromocytoma paraganglioma genetic epigenetic methylation Diseases of the endocrine glands. Clinical endocrinology RC648-665 |
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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 |
work_keys_str_mv |
AT khatamifatemeh geneticandepigeneticdifferencesofbenignandmalignantpheochromocytomasandparagangliomasppgls AT mohammadamolimahsa geneticandepigeneticdifferencesofbenignandmalignantpheochromocytomasandparagangliomasppgls AT tavangarseyedmohammad geneticandepigeneticdifferencesofbenignandmalignantpheochromocytomasandparagangliomasppgls |
_version_ |
1718379419639218176 |