A Case of Multiple Endocrine Neoplasia Type 2B associated with a M918T Mutation in RET Proto-Oncogene.
- Author:
Tae Yong KIM
1
;
Jae Kyung HWANG
;
Min Kyong MOON
;
Young Joo PARK
;
Do Joon PARK
;
Seong Yeon KIM
;
Hong Kyu LEE
;
Yo Kyu YOON
;
Bo Youn CHO
Author Information
1. Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Multiple endocrine neoplasia type 2B;
Medullary thyroid carcinoma;
Pheochromocytoma;
Mucosal neuroma;
RET proto-oncogene
- MeSH:
Adolescent;
Adrenal Glands;
Adrenalectomy;
Calcitonin;
Child;
Codon;
Coxa Valga;
Electrons;
Exons;
Female;
Femur;
Follow-Up Studies;
Humans;
Leukocytes;
Lip;
Male;
Megacolon;
Multiple Endocrine Neoplasia Type 2b*;
Multiple Endocrine Neoplasia*;
Neck Dissection;
Osteotomy;
Pathology;
Pheochromocytoma;
Proto-Oncogenes*;
Surgical Procedures, Minor;
Thyroid Neoplasms;
Thyroid Nodule;
Thyroidectomy;
Thyroxine;
Young Adult
- From:Journal of Korean Society of Endocrinology
2003;18(1):85-93
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A multiple endocrine neoplasia type 2B(MEN2B) is the most distinct and aggressive form of the MEN type 2 variants. We report a case of a 24-years-old woman with MEN2B. The patient had previously undergone a Duhamel's operation due to a megacolon at 6 years old, minor surgery to remove small tumors on the lip at 8 years old, and a bilateral osteotomy of the femur, due to coxa valga, at 15 years old. She underwent a total thyroidectomy and neck dissection, due to a growing thyroid nodule, despite thyroxine treatment, at 19 years old. The pathology revealed a medullary thyroid carcinoma. There was no history of MEN 2B in her family. She had prominent lips, multiple oral mucosal masses, and marfanoid habitus. During the subsequent follow-up, a positron emission tomogram was taken due to a persistently high level of serum calcitonin, despite repeated neck dissections, which revealed a mass in the right adrenal gland. Adrenomedullary function tests showed high levels of urinary catecholamine metabolites, and a genetic analysis of the peripheral leukocyte showed a codon 918 mutation (Met918Thr) at exon 16 of the RET proto-oncogene. The patient underwent a right adrenalectomy and the pathology revealed a pheoch-romocytoma.
