Literature DB >> 22403753

Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene.

Jun Won Min1, Youn Joon Park, Hee Jin Kim, Myung-Chul Chang.   

Abstract

About ten percent of pheochromocytomas are associated with familial syndrome. Hereditary pheochromocytoma has characteristics of early onset, multifocality and bilaterality. We experienced a case of 44-year-old man with bilateral pheochromocytoma without evidence of medullary thyroid cancer. Genetic test detected a L790F germline mutation of RET oncogene. The author found a necessity for genetic tests in cases of young-age, bilateral pheochromocytoma.

Entities:  

Keywords:  Germ-line mutation; Pheochromocytoma; RET

Year:  2012        PMID： 22403753      PMCID： PMC3294113          DOI： 10.4174/jkss.2012.82.3.185

Source DB:  PubMed          Journal:  J Korean Surg Soc        ISSN： 1226-0053


  10 in total

1.  Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma.

Authors:  M M Walther; R Reiter; H R Keiser; P L Choyke; D Venzon; K Hurley; J R Gnarra; J C Reynolds; G M Glenn; B Zbar; W M Linehan
Journal:  J Urol       Date:  1999-09       Impact factor: 7.450

2.  Germ-line mutations in nonsyndromic pheochromocytoma.

Authors:  Hartmut P H Neumann; Birke Bausch; Sarah R McWhinney; Bernhard U Bender; Oliver Gimm; Gerlind Franke; Joerg Schipper; Joachim Klisch; Carsten Altehoefer; Klaus Zerres; Andrzej Januszewicz; Charis Eng; Wendy M Smith; Robin Munk; Tanja Manz; Sven Glaesker; Thomas W Apel; Markus Treier; Martin Reineke; Martin K Walz; Cuong Hoang-Vu; Michael Brauckhoff; Andreas Klein-Franke; Peter Klose; Heinrich Schmidt; Margarete Maier-Woelfle; Mariola Peçzkowska; Cesary Szmigielski; Charis Eng
Journal:  N Engl J Med       Date:  2002-05-09       Impact factor: 91.245

Review 3.  Guidelines for diagnosis and therapy of MEN type 1 and type 2.

Authors:  M L Brandi; R F Gagel; A Angeli; J P Bilezikian; P Beck-Peccoz; C Bordi; B Conte-Devolx; A Falchetti; R G Gheri; A Libroia; C J Lips; G Lombardi; M Mannelli; F Pacini; B A Ponder; F Raue; B Skogseid; G Tamburrano; R V Thakker; N W Thompson; P Tomassetti; F Tonelli; S A Wells; S J Marx
Journal:  J Clin Endocrinol Metab       Date:  2001-12       Impact factor: 5.958

4.  Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

Authors:  G Eisenhofer; J W Lenders; W M Linehan; M M Walther; D S Goldstein; H R Keiser
Journal:  N Engl J Med       Date:  1999-06-17       Impact factor: 91.245

5.  Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2.

Authors:  Andreas Machens; Michael Brauckhoff; Hans-Jürgen Holzhausen; Phuong Nguyen Thanh; Hendrik Lehnert; Henning Dralle
Journal:  J Clin Endocrinol Metab       Date:  2005-04-12       Impact factor: 5.958

6.  Risk-oriented approach to hereditary adrenal pheochromocytoma.

Authors:  Andreas Machens; Michael Brauckhoff; Oliver Gimm; Henning Dralle
Journal:  Ann N Y Acad Sci       Date:  2006-08       Impact factor: 5.691

7.  A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.

Authors:  I Berndt; M Reuter; B Saller; K Frank-Raue; P Groth; M Grussendorf; F Raue; M M Ritter; W Höppner
Journal:  J Clin Endocrinol Metab       Date:  1998-03       Impact factor: 5.958

8.  Phaeochromocytoma, new genes and screening strategies.

Authors:  Anne-Paule Gimenez-Roqueplo; Hendrik Lehnert; Massimo Mannelli; Hartmut Neumann; Giuseppe Opocher; Eamonn R Maher; Pierre-François Plouin
Journal:  Clin Endocrinol (Oxf)       Date:  2006-12       Impact factor: 3.478

9.  RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome?

Authors:  Oliver Gimm; Barbara E Niederle; Theresa Weber; Maximilian Bockhorn; Jörg Ukkat; Michael Brauckhoff; Phuong Nguyen Thanh; Andreja Frilling; Ernst Klar; Bruno Niederle; Henning Dralle
Journal:  Surgery       Date:  2002-12       Impact factor: 3.982

10.  Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.

Authors:  Esther Korpershoek; Bart-Jeroen Petri; Francien H van Nederveen; Winand N M Dinjens; Albert A Verhofstad; Wouter W de Herder; Sonja Schmid; Aurel Perren; Paul Komminoth; Ronald R de Krijger
Journal:  Endocr Relat Cancer       Date:  2007-06       Impact factor: 5.678
  10 in total
  2 in total

1.  A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma.

Authors:  Jin Wook Yi; Hye In Kang; Su-Jin Kim; Chan Yong Seong; Young Jun Chai; June Young Choi; Moon-Woo Seong; Kyu Eun Lee; Sung Sup Park
Journal:  Case Rep Endocrinol       Date:  2018-04-15

2.  Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Authors:  Jes Sloth Mathiesen; Søren Grønlund Nielsen; Åse Krogh Rasmussen; Katalin Kiss; Karin Wadt; Anne Pernille Hermann; Morten Frost Nielsen; Stine Rosenkilde Larsen; Klaus Brusgaard; Anja Lisbeth Frederiksen; Christian Godballe; Maria Rossing
Journal:  Front Endocrinol (Lausanne)       Date:  2020-04-28       Impact factor: 5.555
  2 in total

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