KEGG   DISEASE: Essential thrombocythemia
Entry
H01612                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B63  Thrombocytosis
    H01612  Essential thrombocythemia
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H01612  Essential thrombocythemia
 Cellular process
  nt06535  Efferocytosis
   H01612  Essential thrombocythemia
Pathway
hsa04630  JAK-STAT signaling pathway
Network
nt06518 JAK-STAT signaling
nt06535 Efferocytosis
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]
Drug
Pemigatinib [DR:D11417] (FGFR1 rearrangement)
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
Reference
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
Reference
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
Reference
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
Reference
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
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