| H00247 | |
| H番号 | H00247 |
| 名称 | 多発性内分泌腫瘍症候群; ウェルマー症候群; シップル症候群 |
| 概要 | Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see H01522). MEN2 is characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. Patients with MEN2A develop MTC in association with phaeochromocytoma and parathyroid tumors. Patients with MEN2B develop MTC in association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and symptoms similar to those of type 1. However MEN4 patients have mutations in other genes. The mutations in their responsible genes are found in Each MEN syndrome. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | (MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN2A MEN2B) RET [HSA:5979] [KO:K05126] (MEN4) CDKN1B [HSA:1027] [KO:K06624] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2F7A.0 ICD-10: D44.8 MeSH: D009377 OMIM: 131100 162300 171400 610755 |
| 文献 | PMID:18328987 著者 Falchetti A, Marini F, Luzi E, Tonelli F, Brandi ML タイトル Multiple endocrine neoplasms. 雑誌 Best Pract Res Clin Rheumatol 22:149-63 (2008) DOI:10.1016/j.berh.2007.11.010 PMID:24931355 著者 Walls GV タイトル Multiple endocrine neoplasia (MEN) syndromes. 雑誌 Semin Pediatr Surg 23:96-101 (2014) DOI:10.1053/j.sempedsurg.2014.03.008 PMID:17024155 (MEN1) 著者 Dreijerink KM, Hoppener JW, Timmers HM, Lips CJ タイトル Mechanisms of disease: multiple endocrine neoplasia type 1-relation to chromatin modifications and transcription regulation. 雑誌 Nat Clin Pract Endocrinol Metab 2:562-70 (2006) DOI:10.1038/ncpendmet0292 PMID:15864278 (MEN1, RET) 著者 Marx SJ タイトル Molecular genetics of multiple endocrine neoplasia types 1 and 2. 雑誌 Nat Rev Cancer 5:367-75 (2005) DOI:10.1038/nrc1610 PMID:17030811 (CDKN1B) 著者 Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ タイトル Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. 雑誌 Proc Natl Acad Sci U S A 103:15558-63 (2006) DOI:10.1073/pnas.0603877103 |