Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma

The Journal of Clinical Endocrinology and Metabolism
Aidan FlynnRichard W Tothill

Abstract

Pheochromocytomas and paragangliomas (PPGLs) are heritable neoplasms that can be classified into gene-expression subtypes corresponding to their underlying specific genetic drivers. This study aimed to develop a diagnostic and research tool (Pheo-type) capable of classifying PPGL tumors into gene-expression subtypes that could be used to guide and interpret genetic testing, determine surveillance programs, and aid in elucidation of PPGL biology. A compendium of published microarray data representing 205 PPGL tumors was used for the selection of subtype-specific genes that were then translated to the Nanostring gene-expression platform. A support vector machine was trained on the microarray dataset and then tested on an independent Nanostring dataset representing 38 familial and sporadic cases of PPGL of known genotype (RET, NF1, TMEM127, MAX, HRAS, VHL, and SDHx). Different classifier models involving between three and six subtypes were compared for their discrimination potential. A gene set of 46 genes and six endogenous controls was selected representing six known PPGL subtypes; RTK1-3 (RET, NF1, TMEM127, and HRAS), MAX-like, VHL, and SDHx. Of 38 test cases, 34 (90%) were correctly predicted to six subtypes based on the known...Continue Reading

References

Nov 4, 2000·Nature Genetics·S Niemann, U Müller
Apr 23, 2003·The Journal of Molecular Diagnostics : JMD·Chris CheadleKevin G Becker
Aug 17, 2005·PLoS Genetics·Patricia L M DahiaCharles D Stiles
Aug 23, 2005·Lancet·Jacques W M LendersKarel Pacak
Aug 17, 2006·The Journal of Clinical Endocrinology and Metabolism·Frederieke M BrouwersKarel Pacak
Sep 8, 2006·European Journal of Human Genetics : EJHG·Rosalie E Ferner
Jun 1, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Henri J L M TimmersKarel Pacak
Oct 17, 2008·Nature Reviews. Cancer·William G Kaelin
Nov 13, 2008·The Journal of Clinical Endocrinology and Metabolism·Anthony M JoshuaJennifer J Knox
Feb 16, 2010·Nature Genetics·Yuejuan QinPatricia L M Dahia
May 21, 2010·Human Molecular Genetics·Nelly BurnichonAnne-Paule Gimenez-Roqueplo
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Jun 21, 2011·Nature Genetics·Iñaki Comino-MéndezAlberto Cascón
Jul 26, 2011·Human Molecular Genetics·Nelly BurnichonAnne-Paule Gimenez-Roqueplo
Nov 2, 2011·Endocrine-related Cancer·Jenny WelanderOliver Gimm
Nov 8, 2011·Acta Neuropathologica·Paul A NorthcottMichael D Taylor
Feb 9, 2012·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·P-F PlouinC Jimenez
Mar 29, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Nelly BurnichonMercedes Robledo
Aug 31, 2012·The New England Journal of Medicine·Zhengping ZhuangKarel Pacak
Sep 11, 2012·Human Molecular Genetics·Nelly BurnichonAnne-Paule Gimenez-Roqueplo
Sep 27, 2012·Human Molecular Genetics·Jenny WelanderOliver Gimm
Mar 28, 2013·Endocrine-related Cancer·Rodrigo A ToledoPatricia L M Dahia
May 4, 2013·The Journal of Clinical Endocrinology and Metabolism·Joakim CronaPeyman Björklund
Dec 18, 2013·Human Molecular Genetics·Luis Jaime Castro-VegaAnne-Paule Gimenez-Roqueplo
Jan 21, 2014·Nature Reviews. Cancer·Patricia L M Dahia
Feb 11, 2014·International Urology and Nephrology·Junya HataYoshiyuki Kojima
Mar 29, 2014·International Journal of Cancer. Journal International Du Cancer·Nan QinGraeme Eisenhofer
Apr 4, 2014·The Journal of Clinical Endocrinology and Metabolism·Jenny WelanderPeter Söderkvist
May 27, 2014·Endocrine-related Cancer·Florian HallerAbbas Agaimy
Jun 4, 2014·The Journal of Clinical Endocrinology and Metabolism·Jacques W M LendersWilliam F Young
Jul 9, 2014·The Journal of Clinical Endocrinology and Metabolism·Graeme R ClarkEamonn R Maher
Dec 30, 2014·Science Translational Medicine·J Keith KillianPaul S Meltzer
Dec 30, 2014·The Journal of Pathology·Aidan FlynnRichard W Tothill

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Citations

Aug 19, 2016·Cancer Imaging : the Official Publication of the International Cancer Imaging Society·Chian A ChangMichael S Hofman
Apr 4, 2017·The Journal of Pathology·Aidan FlynnRichard W Tothill
Jan 23, 2018·Current Hypertension Reports·Joseph M PappachanFahmy W F Hanna
Jan 25, 2018·Cell and Tissue Research·Stephanie M J FliednerHendrik Lehnert
Apr 5, 2019·The Journal of Clinical Endocrinology and Metabolism·Shahida K FloresPatricia L M Dahia
Aug 31, 2019·International Journal of Cancer. Journal International Du Cancer·Suman GhosalKarel Pacak
Jul 21, 2016·Advances in Anatomic Pathology·Donna E Hansel, Victor E Reuter
Aug 5, 2020·The Journal of Clinical Endocrinology and Metabolism·Jingjing JiangGraeme Eisenhofer
Jul 28, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Susan RichterBarbara Klink
Oct 2, 2020·Clinical Chemistry and Laboratory Medicine : CCLM·Graeme EisenhoferMercedes Robledo
Jan 13, 2021·Endocrine Pathology·Thomas G PapathomasRonald R de Krijger
Nov 4, 2020·International Journal of Molecular Sciences·Hugo M RossittiOliver Gimm
Dec 29, 2020·The Journal of Clinical Endocrinology and Metabolism·Amanda J SeabrookEmma L Duncan
Jun 26, 2021·Journal of the Endocrine Society·César Ernesto Lam-ChungDaniel Cuevas-Ramos
Jul 9, 2021·Frontiers in Endocrinology·Umair Ali Khan SaddozaiXiangqian Guo

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