Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomas

European Journal of Endocrinology
Bruno RagazzonLionel Groussin

Abstract

Adrenocortical carcinoma (ACC) is a rare disease with a poor overall outcome. Transcriptome analysis identified two groups of ACCs with different prognosis. In aggressive ACCs, somatic mutations of the tumor suppressor gene TP53 and the proto-oncogene β-catenin are detected in 50% of cases. For the remaining aggressive ACCs and for the group with a better prognosis, molecular alterations are unknown. To identify new molecular actors driving adrenal tumorigenesis. Analysis by mass array of 374 mutations among 32 common oncogenes or tumor suppressor genes was performed on the tumoral DNA of 26 ACCs, using Sequenom OncoCarta Panels. Four mutations were identified, two previously known β-catenin mutations and one alteration in two other genes: JAK3 and retinoblastoma gene (RB1). The JAK3 alteration was found in leukocyte DNA and therefore considered as a polymorphism and not a somatic event. The full RB1 tumor suppressor gene was subsequently sequenced in a cohort of 49 ACCs (26 ACCs from the 'OncoCarta cohort' and 23 other ACCs): three somatic mutations were identified, all in the poor-outcome ACC group. By immunohistochemistry, a loss of the retinoblastoma protein (pRb) was found exclusively in aggressive ACCs in 27% of cases (se...Continue Reading

References

Sep 3, 2002·Cancer Cell·Charles J Sherr, Frank McCormick
Jan 15, 2004·Human Mutation·C HoudayerD Stoppa-Lyonnet
Feb 7, 2004·Molecular Biotechnology·Christian JurinkeDirk van den Boom
Feb 10, 2007·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Rossella LibèJérôme Bertherat
Feb 13, 2007·Nature Genetics·Roman K ThomasLevi A Garraway
May 2, 2008·Human Mutation·Claude HoudayerDominique Stoppa-Lyonnet
Jan 14, 2009·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Aurélien de ReynièsJérôme Bertherat
Jan 17, 2009·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Thomas J GiordanoGary Hammer
Nov 20, 2009·PloS One·Laura E MacConaillLevi A Garraway
Jan 2, 2010·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Giovanni LughezzaniPierre I Karakiewicz
Jul 9, 2010·Cancer Research·Rod Bremner, Eldad Zacksenhaus
Nov 23, 2010·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Sébastien GaujouxFrédérique Tissier
Nov 26, 2010·The Journal of Clinical Investigation·Kay F Macleod
Nov 26, 2010·The Journal of Clinical Investigation·Ankur SharmaKaren E Knudsen
Apr 10, 2012·The Journal of Clinical Investigation·Karina ConkriteDavid MacPherson
May 3, 2013·Nature·Cyriac KandothDouglas A Levine
Jun 26, 2013·Nature Genetics·Yusuke SatoSeishi Ogawa
Aug 28, 2013·The Journal of Clinical Endocrinology and Metabolism·Maria Cristina De MartinoEric Baudin

❮ Previous
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Citations

Dec 1, 2014·Surgical Pathology Clinics·Isobel C Mouat, Thomas J Giordano
Jan 31, 2015·Neuro : Open Journal·Rachel D Aufforth, Naris Nilubol
Feb 18, 2015·The British Journal of Surgery·R Mihai
Jun 6, 2015·Postgraduate Medical Journal·Kai DuanOzgur Mete
Jun 4, 2015·Endocrinology and Metabolism Clinics of North America·Stéphanie Espiard, Jérôme Bertherat
Nov 27, 2014·Journal of Clinical Pathology·Kai DuanOzgur Mete
Jan 8, 2016·European Journal of Endocrinology·Simon Faillot, Guillaume Assie
Apr 4, 2017·Oncogene·M Batisse-LignierA-M Lefrançois-Martinez
Oct 8, 2014·Nature Reviews. Endocrinology·Elisabeth M Walczak, Gary D Hammer
May 19, 2018·European Journal of Endocrinology·Sofia S PereiraDuarte Pignatelli
Dec 14, 2017·Endocrine-related Cancer·Fidéline Bonnet-Serrano, Jérôme Bertherat
Sep 18, 2018·Minerva endocrinologica·Rossella Libé
Apr 13, 2019·Endocrine Connections·Sofia S PereiraDuarte Pignatelli
Mar 8, 2017·Endocrine·Chiara FiorentiniSandra Sigala
Apr 3, 2019·Cold Spring Harbor Molecular Case Studies·Mark J McCabeMark J Cowley

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