| H00045 | |
| H番号 | H00045 |
| 名称 | 膵神経内分泌腫瘍 |
| 概要 | Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent genetic alterations in PNET occur in MEN1 (Multiple Endocrine Neoplasia-1 Gene), DAXX/ATRX (Death-Domain Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal dominant hereditary syndrome. Mutations of DAXX and ATRX are common and related to altered telomeres but not to prognosis. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ランレオチド酢酸塩 [DR:D04666] エベロリムス [DR:D02714] ストレプトゾシン [DR:D05932] スニチニブリンゴ酸塩 [DR:D06402] |
| コメント | - |
| リンク | ICD-11: 2C10.1 ICD-10: C25.4 MeSH: D018273 |
| 文献 | PMID:27021395 著者 Viudez A, De Jesus-Acosta A, Carvalho FL, Vera R, Martin-Algarra S, Ramirez N タイトル Pancreatic neuroendocrine tumors: Challenges in an underestimated disease. 雑誌 Crit Rev Oncol Hematol 101:193-206 (2016) DOI:10.1016/j.critrevonc.2016.03.013 PMID:25341008 著者 Halperin DM, Kulke MH, Yao JC タイトル A tale of two tumors: treating pancreatic and extrapancreatic neuroendocrine tumors. 雑誌 Annu Rev Med 66:1-16 (2015) DOI:10.1146/annurev-med-061813-012908 PMID:25619712 (MEN1, DAXX_ATRX) 著者 Capurso G, Archibugi L, Delle Fave G タイトル Molecular pathogenesis and targeted therapy of sporadic pancreatic neuroendocrine tumors. 雑誌 J Hepatobiliary Pancreat Sci 22:594-601 (2015) DOI:10.1002/jhbp.210 |