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Select item 103558621.

Controlling Tumor Progression with Cyclophosphamide, Vincristine, and Dacarbazine Treatment Improves Survival in Patients with Metastatic and Unresectable Malignant Pheochromocytomas/Paragangliomas

Shiko Asai, Takuyuki Katabami, Mika Tsuiki, Yasushi Tanaka, Mitsuhide Naruse

Horm Cancer. 2017 Apr; 8(2): 108–118. Published online 2017 Jan 20. doi: 10.1007/s12672-017-0284-7

PMCID:: PMC10355862

Article PDF–397K

Select item 101824762.

Clinical guideline on the management of pheochromocytoma and paraganglioma in patients harboring germline pathogenic variants in the succinate dehydrogenase subunit D gene

Maleeha Ahmad, Prof Laurence Amar, Prof Isabelle Bourdeau, Ruth T. Casey, Prof Frédéric Castinetti, Prof Roderick Clifton-Bligh, Eleonora P.M. Corssmit, Ronald R. de Krijger, Jaydira Del Rivero, Prof Graeme Eisenhofer, Prof Anthony L. Estrera, Hans K. Ghayee, Prof Anne-Paule Gimenez-Roqueplo, Prof Ashley Grossman, Prof Alessio Imperiale, Prof Jeroen C. Jansen, Abhishek Jha, Michiel Kerstens, Prof Henricus P.M. Kunst, Prof Jacques W.M. Lenders, Prof Michael Lim, Prof James K. Liu, Prof Charlotte Lussey-Lepoutre, Prof Eamonn R. Maher, Prof Daniele Marchioni, Prof Leilani B. Mercado-Asis, Prof Ozgur Mete, Leah Meuter, Mitsuhide Naruse, Prof Naris Nilubol, Prof Svenja Nölting, Prof Karel Pacak, Prof Nancy D. Perrier, Prof Neeta Pandit-Taskar, Erqi Liu Pollom, Prof Frédéric Sebag, Zachary G. Schwam, Prof David Taïeb, Akiyo Tanabe, Prof Henri J. L. M. Timmers, Lucas Vitzthum, Prof George B. Wanna, Prof Jiri Widimsky

Lancet Diabetes Endocrinol. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Lancet Diabetes Endocrinol. 2023 May; 11(5): 345–361. Published online 2023 Mar 31. doi: 10.1016/S2213-8587(23)00038-4

PMCID:: PMC10182476

Currently embargoed: Free in PMC on May 1, 2024; PubMed

Select item 98873503.

UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher, UK Cancer Genetics Centres

J Med Genet. 2023 Feb; 60(2): 107–111. Published online 2022 Mar 8. doi: 10.1136/jmedgenet-2021-108355

PMCID:: PMC9887350

Article PDF–361K

Select item 94060574.

Performances of Functional and Anatomic Imaging Modalities in Succinate Dehydrogenase A-Related Metastatic Pheochromocytoma and Paraganglioma

Mayank Patel, Abhishek Jha, Alexander Ling, Clara C. Chen, Corina Millo, Mickey J. M. Kuo, Matthew A. Nazari, Sara Talvacchio, Kailah Charles, Markku Miettinen, Jaydira Del Rivero, Alice P. Chen, Naris Nilubol, Frank I. Lin, Ali Cahid Civelek, David Taïeb, Jorge A. Carrasquillo, Karel Pacak

Cancers (Basel) 2022 Aug; 14(16): 3886. Published online 2022 Aug 11. doi: 10.3390/cancers14163886

PMCID:: PMC9406057

Article PDF–543K

Select item 93144845.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Article PDF–776K

Select item 90164346.

Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield

Carolyn Horton, Holly LaDuca, Ashley Deckman, Kate Durda, Michelle Jackson, Marcy E Richardson, Yuan Tian, Amal Yussuf, Kory Jasperson, Tobias Else

J Clin Endocrinol Metab. 2022 May; 107(5): e1917–e1923. Published online 2022 Jan 13. doi: 10.1210/clinem/dgac014

PMCID:: PMC9016434

Article

Select item 89423407.

Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine

Susan Richter, Bei Qiu, Mirthe Ghering, Carola Kunath, Georgiana Constantinescu, Charlotte Luths, Christina Pamporaki, Nicole Bechmann, Leah Meuter, Aleksandra Kwapiszewska, Timo Deutschbein, Svenja Nölting, Mirko Peitzsch, Mercedes Robledo, Aleksander Prejbisz, Karel Pacak, Volker Gudziol, Henri J L M Timmers, Graeme Eisenhofer

Endocr Relat Cancer. 2022 Apr 1; 29(4): 213–224. Published online 2022 Feb 16. doi: 10.1530/ERC-21-0359

PMCID:: PMC8942340

Article PDF–1.0M

Select item 82058508.

International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers

Laurence Amar, Karel Pacak, Olivier Steichen, Scott A. Akker, Simon J. B. Aylwin, Eric Baudin, Alexandre Buffet, Nelly Burnichon, Roderick J. Clifton-Bligh, Patricia L. M. Dahia, Martin Fassnacht, Ashley B. Grossman, Philippe Herman, Rodney J. Hicks, Andrzej Januszewicz, Camilo Jimenez, Henricus P. M. Kunst, Dylan Lewis, Massimo Mannelli, Mitsuhide Naruse, Mercedes Robledo, David Taïeb, David R. Taylor, Henri J. L. M. Timmers, Giorgio Treglia, Nicola Tufton, William F. Young, Jacques W. M. Lenders, Anne-Paule Gimenez-Roqueplo, Charlotte Lussey-Lepoutre

Nat Rev Endocrinol. 2021; 17(7): 435–444. Published online 2021 May 21. doi: 10.1038/s41574-021-00492-3

PMCID:: PMC8205850

Article PDF–1.2M

Select item 81943629.

PET/CT comparing ⁶⁸Ga-DOTATATE and other radiopharmaceuticals and in comparison with CT/MRI for the localization of sporadic metastatic pheochromocytoma and paraganglioma

Ingo Janssen, Clara C. Chen, Corina M. Millo, Alexander Ling, David Taieb, Frank I. Lin, Karen T. Adams, Katherine I. Wolf, Peter Herscovitch, Antonio T. Fojo, Inga Buchmann, Electron Kebebew, Karel Pacak

Eur J Nucl Med Mol Imaging. Author manuscript; available in PMC 2021 Jun 11.

Published in final edited form as: Eur J Nucl Med Mol Imaging. 2016 Sep; 43(10): 1784–1791. Published online 2016 Mar 21. doi: 10.1007/s00259-016-3357-x

PMCID:: PMC8194362

Article PDF–415K

Select item 776564810.

Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update

Gustavo Armaiz-Pena, Shahida K Flores, Zi-Ming Cheng, Xhingyu Zhang, Emmanuel Esquivel, Natalie Poullard, Anusha Vaidyanathan, Qianqian Liu, Joel Michalek, Alfredo A Santillan-Gomez, Michael Liss, Sara Ahmadi, Daniel Katselnik, Enrique Maldonado, Sarimar Agosto Salgado, Camilo Jimenez, Lauren Fishbein, Oksana Hamidi, Tobias Else, Ron Lechan, Art S Tischler, Diana E Benn, Trisha Dwight, Rory Clifton-Bligh, Gabriela Sanso, Marta Barontini, Deepa Vincent, Neil Aronin, Bernadette Biondi, Maureen Koops, Elizabeth Bowhay-Carnes, Anne-Paule Gimenez-Roqueplo, Andrea Alvarez-Eslava, Jan M Bruder, Mio Kitano, Nelly Burnichon, Yanli Ding, Patricia L M Dahia

J Clin Endocrinol Metab. 2021 Jan; 106(1): e350–e364. Published online 2020 Oct 13. doi: 10.1210/clinem/dgaa741

PMCID:: PMC7765648

Article

Select item 775886211.

Maternal and Fetal Outcomes in Pheochromocytoma and Pregnancy: a multi-center retrospective cohort study and systematic review of literature

Irina Bancos, Elizabeth Atkinson, Charis Eng, William F. Young, Jr., Hartmut P. H. Neumann, International-Pheochromocytoma-and-Pregnancy-Study Group

Lancet Diabetes Endocrinol. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Lancet Diabetes Endocrinol. 2021 Jan; 9(1): 13–21. Published online 2020 Nov 26. doi: 10.1016/S2213-8587(20)30363-6

PMCID:: PMC7758862

Article PDF–448K

Select item 754896012.

Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas

Paal W Wallace, Catleen Conrad, Sascha Brückmann, Ying Pang, Eduardo Caleiras, Masanori Murakami, Esther Korpershoek, Zhengping Zhuang, Elena Rapizzi, Matthias Kroiss, Volker Gudziol, Henri JLM Timmers, Massimo Mannelli, Jens Pietzsch, Felix Beuschlein, Karel Pacak, Mercedes Robledo, Barbara Klink, Mirko Peitzsch, Anthony J Gill, Arthur S Tischler, Ronald R de Krijger, Thomas Papathomas, Daniela Aust, Graeme Eisenhofer, Susan Richter

J Pathol. Author manuscript; available in PMC 2020 Oct 12.

Published in final edited form as: J Pathol. 2020 Aug; 251(4): 378–387. Published online 2020 Jul 1. doi: 10.1002/path.5472

PMCID:: PMC7548960

Article PDF–484K

Select item 749728913.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 690370214.

Current Management of Succinate Dehydrogenase Deficient Gastrointestinal Stromal Tumors

Pushpa Neppala, Sudeep Banerjee, Paul T. Fanta, Mayra Yerba, Kevin A. Porras, Adam M. Burgoyne, Jason K. Sicklick

Cancer Metastasis Rev. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Cancer Metastasis Rev. 2019 Sep; 38(3): 525–535. doi: 10.1007/s10555-019-09818-0

PMCID:: PMC6903702

Article PDF–551K

Select item 599237215.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne P M McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher

J Med Genet. 2018 Jun; 55(6): 1–11. Published online 2018 Jan 31. doi: 10.1136/jmedgenet-2017-105127

Correction in:: J Med Genet. 2019 Jan; 56(1): 50–52.

PMCID:: PMC5992372

Article PDF–1.7M

Select item 582429016.

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

Birke Bausch, Francesca Schiavi, Ying Ni, Jenny Welander, Attila Patocs, Joanne Ngeow, Ulrich Wellner, Angelica Malinoc, Elisa Taschin, Giovanni Barbon, Virginia Lanza, Peter Söderkvist, Adam Stenman, Catharina Larsson, Fredrika Svahn, Jin-Lian Chen, Jessica Marquard, Merav Fraenkel, Martin A. Walter, Mariola Peczkowska, Aleksander Prejbisz, Barbara Jarzab, Kornelia Hasse-Lazar, Stephan Petersenn, Lars C. Moeller, Almuth Meyer, Nicole Reisch, Arnold Trupka, Christoph Brase, Matthias Galiano, Simon F. Preuss, Pingling Kwok, Nikoletta Lendvai, Gani Berisha, Özer Makay, Carsten C. Boedeker, Georges Weryha, Karoly Racz, Andrzej Januszewicz, Martin K. Walz, Oliver Gimm, Giuseppe Opocher, Charis Eng, Hartmut P. H. Neumann

JAMA Oncol. 2017 Sep; 3(9): 1204–1212. Published online 2017 Apr 6. doi: 10.1001/jamaoncol.2017.0223

PMCID:: PMC5824290

Article

Select item 558706117.

Malignant Pheochromocytoma and Paraganglioma: 272 Patients Over 55 Years

Oksana Hamidi, William F. Young, Jr., Nicole M. Iñiguez-Ariza, Nana Esi Kittah, Lucinda Gruber, Cristian Bancos, Shrikant Tamhane, Irina Bancos

J Clin Endocrinol Metab. 2017 Sep 1; 102(9): 3296–3305. Published online 2017 Jun 12. doi: 10.1210/jc.2017-00992

PMCID:: PMC5587061

Article

Select item 550578018.

Ivana Jochmanova, Katherine I. Wolf, Kathryn S. King, Joan Nambuba, Robert Wesley, Victoria Martucci, Margarita Raygada, Karen T. Adams, Tamara Prodanov, Antonio Tito Fojo, Ivica Lazurova, Karel Pacak

J Cancer Res Clin Oncol. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: J Cancer Res Clin Oncol. 2017 Aug; 143(8): 1421–1435. Published online 2017 Apr 3. doi: 10.1007/s00432-017-2397-3

PMCID:: PMC5505780

Article PDF–771K

Select item 547210019.

Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic

Sosipatros A. Boikos, Alberto S. Pappo, J. Keith Killian, Michael P. LaQuaglia, Chris B. Weldon, Suzanne George, Jonathan C. Trent, Margaret von Mehren, Jennifer A. Wright, Josh D. Schiffman, Margarita Raygada, Karel Pacak, Paul S. Meltzer, Markku M. Miettinen, Constantine Stratakis, Katherine A. Janeway, Lee J. Helman

JAMA Oncol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: JAMA Oncol. 2016 Jul 1; 2(7): 922–928. doi: 10.1001/jamaoncol.2016.0256