Molecular Heterogeneity in Aldosterone-Producing Adenomas

The Journal of Clinical Endocrinology and Metabolism
Kazutaka NanbaWilliam E Rainey

Abstract

The use of next-generation sequencing has resulted in the identification of recurrent somatic mutations underlying primary aldosteronism (PA). However, significant gaps remain in our understanding of the relationship between tumor aldosterone synthase (CYP11B2) expression and somatic mutation status. The objective of the study was to investigate tumor CYP11B2 expression and somatic aldosterone-driver gene mutation heterogeneity. Fifty-one adrenals from 51 PA patients were studied. Immunohistochemistry for CYP11B2 was performed. Aldosterone-producing adenomas with intratumor CYP11B2 heterogeneity were analyzed for mutation status using targeted next-generation sequencing. DNA was isolated from CYP11B2-positive, CYP11B2-negative, and adjacent normal areas from formalin-fixed, paraffin-embedded sections. Of 51 adrenals, seven (14 %) showed distinct heterogeneity in CYP11B2 by immunohistochemistry, including six adenomas with intratumor heterogeneity and one multinodular hyperplastic adrenal with both CYP11B2-positive and -negative nodules. Of the six adrenocortical adenomas with CYP11B2 heterogeneity, three had aldosterone-regulating mutations (CACNA1D p.F747C, KCNJ5 p.L168R, ATP1A1 p.L104R) only in CYP11B2-positive regions, and o...Continue Reading

References

Dec 12, 1991·The New England Journal of Medicine·L S WeinsteinA M Spiegel
Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Nov 30, 2002·European Journal of Endocrinology·F FalloJ M Mathis
Dec 16, 2003·The Journal of Steroid Biochemistry and Molecular Biology·Vincenzo PezziBruce R Carr
Dec 13, 2006·Journal of the American College of Cardiology·Gian Paolo RossiUNKNOWN PAPY Study Investigators
May 12, 2007·Clinical Endocrinology·William F Young
Mar 5, 2010·The Journal of Clinical Endocrinology and Metabolism·Koshiro NishimotoKuniaki Mukai
Sep 8, 2010·Neuroscience Letters·William A Catterall
May 26, 2012·The Journal of Clinical Endocrinology and Metabolism·Silvia MonticoneWilliam E Rainey
Feb 28, 2013·The Journal of Clinical Endocrinology and Metabolism·Kazutaka NanbaMitsuhide Naruse
Aug 6, 2013·Nature Genetics·Elena A B AzizanMorris J Brown
Nov 29, 2013·The New England Journal of Medicine·Guillaume AssiéJérôme Bertherat
Dec 12, 2013·Molecular and Cellular Endocrinology·Celso E Gomez-SanchezElise P Gomez-Sanchez
Feb 28, 2014·The New England Journal of Medicine·Felix BeuschleinBruno Allolio
Apr 22, 2014·Nature Genetics·Guillaume AssiéJérôme Bertherat
Apr 22, 2014·Nature Genetics·Gerald GohRichard P Lifton
Apr 25, 2014·The Journal of Clinical Endocrinology and Metabolism·T DekkersB Küsters
May 29, 2014·Hypertension·Fabio Luiz Fernandes-RosaMaria-Christina Zennaro
Jul 17, 2014·Molecular Endocrinology·Elisabeth M WalczakGary D Hammer
Sep 23, 2014·Molecular and Cellular Endocrinology·Silvia MonticoneWilliam E Rainey
Mar 10, 2015·European Journal of Endocrinology·Anne ThielUte I Scholl
Mar 31, 2015·The Journal of Clinical Endocrinology and Metabolism·Mihail ZilbermintConstantine A Stratakis
May 11, 2015·Molecular and Cellular Endocrinology·Silvia MonticonePaolo Mulatero
Aug 5, 2015·Proceedings of the National Academy of Sciences of the United States of America·Koshiro NishimotoWilliam E Rainey
Aug 20, 2015·Endocrine-related Cancer·Tobias ÅkerströmPer Hellman

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Citations

Jun 11, 2016·Biochemical and Biophysical Research Communications·Masanori MurakamiYoshihiro Ogawa
May 12, 2016·European Journal of Endocrinology·Kazutaka NanbaTobias Else
Nov 18, 2016·The Tohoku Journal of Experimental Medicine·Yasuhiro NakamuraHironobu Sasano
Apr 13, 2017·Journal of Molecular Endocrinology·Fabio Luiz Fernandes-RosaMaria-Christina Zennaro
Apr 4, 2017·The Journal of Clinical Endocrinology and Metabolism·Kei OmataAnand Vaidya
Apr 18, 2018·International Journal of Experimental Pathology·Guoxi ZhangJiaxing Zhu
Feb 13, 2018·Current Opinion in Endocrinology, Diabetes, and Obesity·Maria-Christina ZennaroSheerazed Boulkroun
Aug 9, 2017·Clinical Endocrinology·Aya T NanbaAdina F Turcu
Jun 2, 2017·Circulation·Kazutaka NanbaWilliam E Rainey
Sep 28, 2017·Hypertension·Teresa M SecciaGian Paolo Rossi
Aug 8, 2018·The Journal of Clinical Endocrinology and Metabolism·Kazutaka NanbaWilliam E Rainey
Jan 19, 2019·Scandinavian Journal of Surgery : SJS : Official Organ for the Finnish Surgical Society and the Scandinavian Surgical Society·C VolpeC C Juhlin
Feb 12, 2019·Hypertension·Kazutaka NanbaWilliam E Rainey
Feb 13, 2019·Endocrine-related Cancer·Antonio M LerarioTobias Else
Sep 29, 2017·Endocrinology and Metabolism·Jian Jhong WangKwan Dun Wu
Dec 4, 2019·The Journal of Clinical Endocrinology and Metabolism·Yoshikiyo OnoHironobu Sasano
Nov 5, 2016·The Journal of Clinical Endocrinology and Metabolism·Rene BaudrandAnand Vaidya
Aug 14, 2020·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·Samuel W PlaskaAaron M Udager
Jul 28, 2020·The Journal of Clinical Endocrinology and Metabolism·Taweesak WannachaleeAdina F Turcu
Nov 21, 2018·Hormones : International Journal of Endocrinology and Metabolism·Crystal D C Kamilaris, Constantine A Stratakis
Mar 3, 2020·Hypertension·Kelly De SousaMaria-Christina Zennaro
Jun 26, 2020·Pflügers Archiv : European journal of physiology·Nadine J OrtnerJörg Striessnig
Mar 16, 2018·Endocrine Pathology·Ozgur MeteMarco Volante
Oct 4, 2017·Endocrine Reviews·Maria-Christina ZennaroFabio Fernandes-Rosa
Jan 28, 2020·Hypertension·Kazutaka NanbaWilliam E Rainey
Oct 5, 2018·Journal of the Endocrine Society·Wasita WarachitSarat Sunthornyothin
Nov 7, 2019·Experimental & Molecular Medicine·Eric SeidelUte I Scholl
Oct 10, 2020·Journal of the Endocrine Society·Juilee RegeTobias Else
Aug 25, 2020·Current Opinion in Endocrine and Metabolic Research·Nicholas Yozamp, Anand Vaidya
Apr 29, 2021·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Chieh-Kai ChanUNKNOWN TAIPAI Study Group
May 1, 2021·Biomedicines·Kiyotaka ItchoMasayasu Yoneda
Oct 23, 2019·American Journal of Hypertension·Andrea G MariaConstantine A Stratakis
Sep 18, 2021·The Journal of Clinical Endocrinology and Metabolism·Juilee RegeKazutaka Nanba

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