| H01612 | |
| H number | H01612 |
| Name | Essential thrombocythemia; Essential thrombocytosis; Thrombocythemia |
| Description | 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. |
| Category | Hematologic disease |
| Network | nt06518(H01612) JAK-STAT signaling |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B63 ICD-10: D47.3 MeSH: D013920 OMIM: 187950 601977 614521 |
| Reference | PMID:25611051 (CALR, MPL, JAK2) AUTHORS Tefferi A, Barbui T TITLE Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. JOURNAL Am J Hematol 90:162-73 (2015) DOI:10.1002/ajh.23895 PMID:23668666 AUTHORS Birgegard G TITLE Pharmacological management of essential thrombocythemia. JOURNAL Expert Opin Pharmacother 14:1295-306 (2013) DOI:10.1517/14656566.2013.797408 PMID:22160037 AUTHORS Cervantes F TITLE Management of essential thrombocythemia. JOURNAL Hematology Am Soc Hematol Educ Program 2011:215-21 (2011) DOI:10.1182/asheducation-2011.1.215 PMID:9425899 (THPO) AUTHORS Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC TITLE An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. JOURNAL Nat Genet 18:49-52 (1998) DOI:10.1038/ng0198-49 PMID:20404132 (SH2B3) AUTHORS Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J TITLE Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. JOURNAL Blood 116:988-92 (2010) DOI:10.1182/blood-2010-02-270108 |