OBJECTIVE: The precise penetrance of pheochromocytoma (PHEO) in multiple endocrine neoplasia type 2 (MEN2) has not been reported in a large cohort. In this study, we aimed to clarify the codon-specific penetrance of PHEO in MEN2. DESIGN: We established a study group designated the 'MEN Consortium of Japan' in 2008 and asked physicians and surgeons to provide clinical and genetic information on patients they had treated up to 2011. METHODS: Data were collected on patients identified as carriers of the RET mutation or diagnosed with medullary thyroid carcinoma (MTC) and/or PHEO with family history from 52 institutions all over Japan. RESULTS: Of 493 registered MEN2 patients, RET mutation data were available for 390. Of these, 144 developed PHEOs, while 246 did not. The penetrance of PHEO was 25% by age 30 years, 52% by age 50 years, and 88% by age 77 years in RET mutation carriers with a codon 634 mutation. All patients with a codon 918 mutation (MEN2B) developed PHEO by age 56 years. Less than 32%penetrance of PHEO was seen in patients with mutations at codons other than 634 and 918. CONCLUSIONS: Most patients with a codon 634 mutation develop PHEOs as well as MTC during their lifetime.
OBJECTIVE: The precise penetrance of pheochromocytoma (PHEO) in multiple endocrine neoplasia type 2 (MEN2) has not been reported in a large cohort. In this study, we aimed to clarify the codon-specific penetrance of PHEO in MEN2. DESIGN: We established a study group designated the 'MEN Consortium of Japan' in 2008 and asked physicians and surgeons to provide clinical and genetic information on patients they had treated up to 2011. METHODS: Data were collected on patients identified as carriers of the RET mutation or diagnosed with medullary thyroid carcinoma (MTC) and/or PHEO with family history from 52 institutions all over Japan. RESULTS: Of 493 registered MEN2 patients, RET mutation data were available for 390. Of these, 144 developed PHEOs, while 246 did not. The penetrance of PHEO was 25% by age 30 years, 52% by age 50 years, and 88% by age 77 years in RET mutation carriers with a codon 634 mutation. All patients with a codon 918 mutation (MEN2B) developed PHEO by age 56 years. Less than 32%penetrance of PHEO was seen in patients with mutations at codons other than 634 and 918. CONCLUSIONS: Most patients with a codon 634 mutation develop PHEOs as well as MTC during their lifetime.
Authors: Samuel A Wells; Sylvia L Asa; Henning Dralle; Rossella Elisei; Douglas B Evans; Robert F Gagel; Nancy Lee; Andreas Machens; Jeffrey F Moley; Furio Pacini; Friedhelm Raue; Karin Frank-Raue; Bruce Robinson; M Sara Rosenthal; Massimo Santoro; Martin Schlumberger; Manisha Shah; Steven G Waguespack Journal: Thyroid Date: 2015-06 Impact factor: 6.568
Authors: Jonathan D Wasserman; Gail E Tomlinson; Harriet Druker; Junne Kamihara; Wendy K Kohlmann; Christian P Kratz; Katherine L Nathanson; Kristian W Pajtler; Andreu Parareda; Surya P Rednam; Lisa J States; Anita Villani; Michael F Walsh; Kristin Zelley; Joshua D Schiffman Journal: Clin Cancer Res Date: 2017-07-01 Impact factor: 12.531
Authors: Brian Hung-Hin Lang; Hyeong Won Yu; Chung-Yau Lo; Kyu Eun Lee; Maria-Mercedes Garcia-Barcelo; Yu Cho Woo; Paul C H Lee; Kai Pun Wong; Paul K H Tam; Karen S L Lam Journal: World J Surg Date: 2015-10 Impact factor: 3.352