| H01612 | |
| H番号 | H01612 |
| 名称 | 本態性血小板血症 |
| 概要 | Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an isolated thrombocytosis and overlaps clinically with polycythemia vera [DS:H00012] and primary myelofibrosis (PMF) [DS:H01605]. The V617F mutation in the tyrosine pseudokinase region of the JAK2 gene is found in 50 - 60% of ET patients. This mutation produces an increased tyrosine kinase activity of JAK2, resulting in uncontrolled cellular growth in the hematopoietic compartment. Calreticulin (CALR) or myeloproliferative leukemia virus oncogene (MPL) mutations occur in approximately 25%, and 3% of ET patients, respectively. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06518(H01612) JAK-STAT signaling |
| 病因遺伝子 | (THCYT1) THPO [HSA:7066] [KO:K06854] (THCYT1) SH2B3 [HSA:10019] [KO:K12459] (THCYT1) CALR [HSA:811] [KO:K08057] (THCYT2) MPL [HSA:4352] [KO:K05082] (THCYT3) JAK2 [HSA:3717] [KO:K04447] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ヒドロキシカルバミド [DR:D00341] アナグレリド塩酸塩水和物 [DR:D10255] |
| コメント | - |
| リンク | ICD-11: 3B63 ICD-10: D47.3 MeSH: D013920 OMIM: 187950 601977 614521 |
| 文献 | PMID:25611051 (CALR, MPL, JAK2) 著者 Tefferi A, Barbui T タイトル Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. 雑誌 Am J Hematol 90:162-73 (2015) DOI:10.1002/ajh.23895 PMID:23668666 著者 Birgegard G タイトル Pharmacological management of essential thrombocythemia. 雑誌 Expert Opin Pharmacother 14:1295-306 (2013) DOI:10.1517/14656566.2013.797408 PMID:22160037 著者 Cervantes F タイトル Management of essential thrombocythemia. 雑誌 Hematology Am Soc Hematol Educ Program 2011:215-21 (2011) DOI:10.1182/asheducation-2011.1.215 PMID:9425899 (THPO) 著者 Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC タイトル An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. 雑誌 Nat Genet 18:49-52 (1998) DOI:10.1038/ng0198-49 PMID:20404132 (SH2B3) 著者 Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J タイトル Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 雑誌 Blood 116:988-92 (2010) DOI:10.1182/blood-2010-02-270108 |