Literature DB >> 31876082

Clinical manifestations of Pacak-Zhuang syndrome in a male pediatric patient.

Adel Abdallah1, Alberto Pappo2, Ulrike Reiss3, Barry L Shulkin4, Zhengping Zhuang5, Karel Pacak6, Armita Bahrami1,2,7.   

Abstract

We report an index case of a male patient who presented with all clinical manifestations of Pacak-Zhuang syndrome, including early-age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  EPAS1; Pacak-Zhuang syndrome; paraganglioma; somatostatinoma

Mesh：

Substances：

Year:  2019        PMID： 31876082      PMCID： PMC7036331          DOI： 10.1002/pbc.28096

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.838


  10 in total

1.  Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.

Authors:  R Kralovics; K Indrak; T Stopka; B W Berman; J F Prchal; J T Prchal
Journal:  Blood       Date:  1997-09-01       Impact factor: 22.113

Review 2.  Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity.

Authors:  Patricia L M Dahia
Journal:  Nat Rev Cancer       Date:  2014-01-20       Impact factor: 60.716

3.  Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.

Authors:  Zhengping Zhuang; Chunzhang Yang; Felipe Lorenzo; Maria Merino; Tito Fojo; Electron Kebebew; Vera Popovic; Constantine A Stratakis; Josef T Prchal; Karel Pacak
Journal:  N Engl J Med       Date:  2012-09-06       Impact factor: 91.245

Review 4.  New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification.

Authors:  Joakim Crona; David Taïeb; Karel Pacak
Journal:  Endocr Rev       Date:  2017-12-01       Impact factor: 19.871

5.  Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.

Authors:  Lauren Fishbein; Ignaty Leshchiner; Vonn Walter; Ludmila Danilova; A Gordon Robertson; Amy R Johnson; Tara M Lichtenberg; Bradley A Murray; Hans K Ghayee; Tobias Else; Shiyun Ling; Stuart R Jefferys; Aguirre A de Cubas; Brandon Wenz; Esther Korpershoek; Antonio L Amelio; Liza Makowski; W Kimryn Rathmell; Anne-Paule Gimenez-Roqueplo; Thomas J Giordano; Sylvia L Asa; Arthur S Tischler; Karel Pacak; Katherine L Nathanson; Matthew D Wilkerson
Journal:  Cancer Cell       Date:  2017-02-02       Impact factor: 31.743

6.  Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Authors:  Roland Därr; Joan Nambuba; Jaydira Del Rivero; Ingo Janssen; Maria Merino; Milena Todorovic; Bela Balint; Ivana Jochmanova; Josef T Prchal; Ronald M Lechan; Arthur S Tischler; Vera Popovic; Dragana Miljic; Karen T Adams; F Ryan Prall; Alexander Ling; Meredith R Golomb; Michael Ferguson; Naris Nilubol; Clara C Chen; Emily Chew; David Taïeb; Constantine A Stratakis; Tito Fojo; Chunzhang Yang; Electron Kebebew; Zhengping Zhuang; Karel Pacak
Journal:  Endocr Relat Cancer       Date:  2016-09-27       Impact factor: 5.678

7.  Ocular manifestations of hypoxia-inducible factor-2α paraganglioma-somatostatinoma-polycythemia syndrome.

Authors:  Karel Pacak; Emily Y Chew; Alberto S Pappo; Chunzhang Yang; Felipe R Lorenzo; Matthew W Wilson; Mary Beth Aronow; James A Young; Vera Popovic; Zhengping Zhuang
Journal:  Ophthalmology       Date:  2014-08-08       Impact factor: 12.079

8.  New syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Authors:  Karel Pacak; Ivana Jochmanova; Tamara Prodanov; Chunzhang Yang; Maria J Merino; Tito Fojo; Josef T Prchal; Arthur S Tischler; Ronald M Lechan; Zhengping Zhuang
Journal:  J Clin Oncol       Date:  2013-03-18       Impact factor: 44.544

9.  Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.

Authors:  Alexandre Buffet; Sarra Smati; Ludovic Mansuy; Mélanie Ménara; Maëlle Lebras; Marie-Françoise Heymann; Christophe Simian; Judith Favier; Arnaud Murat; Bertrand Cariou; Anne-Paule Gimenez-Roqueplo
Journal:  J Clin Endocrinol Metab       Date:  2013-11-25       Impact factor: 5.958

10.  Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Authors:  Chunzhang Yang; Christopher S Hong; Josef T Prchal; Melina T Balint; Karel Pacak; Zhengping Zhuang
Journal:  Hum Genome Var       Date:  2015-12-10
  10 in total
  2 in total

Review 1.  Management of Pheochromocytomas and Paragangliomas: A Case-Based Review of Clinical Aspects and Perspectives.

Authors:  Bartosz Kamil Sobocki; Adrian Perdyan; Olga Szot; Jacek Rutkowski
Journal:  J Clin Med       Date:  2022-05-05       Impact factor: 4.964

Review 2.  Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.

Authors:  Bettina Winzeler; Nicola Tufton; Eugenie S Lim; Ben G Challis; Soo-Mi Park; Louise Izatt; Paul V Carroll; Anand Velusamy; Tony Hulse; Benjamin C Whitelaw; Ezequiel Martin; Fay Rodger; Melanie Maranian; Graeme R Clark; Scott A Akker; Eamonn R Maher; Ruth T Casey
Journal:  Clin Endocrinol (Oxf)       Date:  2021-12-06       Impact factor: 3.523
  2 in total

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