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Eur J Endocrinol. 2013 Apr 15;168(5):683-7. doi: 10.1530/EJE-12-1106. Print 2013 May.

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients.

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1
Division of Breast and Endocrine Surgery, Department of Surgery, Aichi Medical University, Nagakute, Aichi, Japan. timai@med.nagoya-u.ac.jp

Abstract

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.

PMID:
23416954
DOI:
10.1530/EJE-12-1106
[Indexed for MEDLINE]
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