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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 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.

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Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

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Lack of association between TCF7L2 gene variants and type 2 diabetes mellitus in a Brazilian sample of patients with the risk for cardiovascular disease

. Glucagon-like peptide-1 activation of TCF7L2-dependent Wnt signaling enhances pancreatic beta cell proliferation. J Biol Chem 283, 8723–8735, 2008. Long J, Edwards T, Signorello LB, Cai Q, Zheng W, Shu XO, Blot WJ. Evaluation of genome-wide association study-identified type 2 diabetes loci in African Americans. Am J Epidemiol 176, 995–1001, 2012. Lyssenko V, Lupi R, Marchetti P, Del Guerra S, Orho-Melander M, Almgren P, Sjogren M, Ling C, Eriksson KF, Lethagen AL, Mancarella R, Berglund G, Tuomi T, Nilsson P, Del Prato S, Groop L. Mechanisms by which common

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The expression of Drosha, DGCR8, Dicer and Ago-2 genes are upregulated in human umbilical vein endothelial cells under hyperglycemic condition

References Aure MR, Leivonen SK, Fleischer T, Zhu Q, Overgaard J, Alsner J, Tramm T, Louhimo R, Alnæs GI, Perala M, Busato F, Touleimat N, Tost J, Børresen-Dale AL, Hautaniemi S, Troyanskaya OG, Lingjærde OC, Sahlberg KK, Kristensen VN. Individual and combined effects of DNA methylation and copy number alterations on miRNA expression in breast tumors. Genome Biol 14, R126, 2013. Bhattacharya S, Aggarwal R, Singh VP, Ramachandran S, Datta M. Downregulation of miRNAs during delayed wound healing in diabetes: Role of Dicer. Mol Med 2015. Chavali V

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Novel insights into genetics and clinics of the HNF1A-MODY

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Exposure to a single immobilization or lipopolysaccharide challenge increases expression of genes implicated in the development of Alzheimer’s disease in the mice brain cortex

, Prescott SM, McIntyre TM. Retrograde inflammatory signaling from neutrophils to endothelial cells by soluble interleukin-6 receptor alpha. J Clin Invest 100, 2752–2756, 1997. Moraes CF, Lins TC, Carmargos EF, Naves JO, Pereira RW, Nobrega OT. Lessons from genome-wide association studies findings in Alzheimer’s disease. Psychogeriatrics 12, 62–73, 2012. Muller UC, Deller T, Korte M. Not just amyloid: physiological functions of the amyloid precursor protein family. Nat Rev Neurosci 18, 281–298, 2017. Murakami N, Yamaki T, Iwamoto Y, Sakakibara T, Kobori N

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, Jefferys SR, de Cubas AA, Wenz B, Korpershoek E, Amelio AL, Makowski L, Rathmell WK, Gimenez-Roqueplo AP, Giordano TJ, Asa SL, Tischler AS; Cancer Genome Atlas Research Network, Pacak K, Nathanson KL, Wilkerson MD. Comprehensive molecular characterization of pheochromocytoma and paraganglioma. Cancer Cell 31, 181–193, 2017. Flynn A, Benn D, Clifton-Bligh R, Robinson B, Trainer AH, James P, Hogg A, Waldeck K, George J, Li J, Fox SB, Gill AJ, McArthur G, Hicks RJ, Tothill RW. The genomic landscape of phaeochromocytoma. J Pathol 236, 78–89, 2015. Francis IR

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Progress in micro RNA focused research in endocrinology

-1134, 2007. Heo I, Joo C, Cho J, Ha M, Han J, Kim VN. Lin28 mediates the terminal uridylation of let-7 precursor Micro- RNA. Molecular Cell 32, 276-284, 2008. Holley CL, Topkara VK. An introduction to small non-coding RNAs: miRNA and snoRNA. Cardiovasc Drugs Th er 25, 151-159, 2011. http://dx.doi:10.1007/s10557-011-6290-z Hock J, Meister G. The Argonaute protein family. Genome Biol 9, 210, 2008.

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Multiple functions and essential roles of nuclear receptor coactivators of bHLH-PAS family

, Istomin AY, Livesay DR, Jacobs DJ, Swerdloff RS, Miksovska J, Larsen RW, Bhasin S. Kinetic and thermodynamic characterization of dihydrotestosterone-induced conformational perturbations in androgen receptor ligand-binding domain. Mol Endocrinol 23, 1231-1241, 2009. Jones S. An overview of the basic helix-loop-helix proteins. Genome Biol 5, 226, 2004. Jung SY, Malovannaya A, Wei J, O’Malley BW, Qin J. Proteomic analysis of steady-state nuclear hormone receptor coactivator complexes. Mol Endocrinol 19, 2451-2465, 2005

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Polycystic Ovary Syndrome as a systemic disease with multiple molecular pathways: a narrative review

, Zhao H, Chen ZJ. Genome-wide association studies for Polycystic Ovary Syndrome. Semin Reprod Med 34, 224-229, 2016. Mackman N. The role of tissue factor and factor VIIa in hemostasis. Anesth Analg 108, 1447-1452, 2009. Macut D, Damjanovic S, Panidis D, Spanos N, Glisic B, Petakov M, Rousso D, Kourtis A, Bjekic J, Milic N. Oxidised low-density lipoprotein concentration - early marker of an altered lipid metabolism in young women with PCOS. Eur J Endocrinol 155, 131-136, 2006. Macut D, Bjekic-Macut J, Savic-Radojevic A

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