KEGG   DISEASE: Essential thrombocytosisHelp
Entry
H01612                      Disease                                

Name
Essential thrombocytosis
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 and primary myelofibrosis (PMF). 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
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H01612  Essential thrombocytosis
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
   Fibrinolytic defects
    3B63  Thrombocytosis
     H01612  Essential thrombocytosis
BRITE hierarchy
Gene
JAK2 (mutation) [HSA:3717] [KO:K04447]
CALR (mutation) [HSA:811] [KO:K08057]
MPL (mutation) [HSA:4352] [KO:K05082]
Other DBs
ICD-11: 3B63
ICD-10: D47.3
MeSH: D013920
Reference
PMID:25611051 (description, gene, marker)
  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:26137205 (drug, marker)
  Authors
Birgegard G
  Title
Advances and challenges in the management of essential thrombocythemia.
  Journal
Ther Adv Hematol 6:142-56 (2015)
DOI:10.1177/2040620715580068
Reference
PMID:23668666 (description, gene, drug)
  Authors
Birgegard G
  Title
Pharmacological management of essential thrombocythemia.
  Journal
Expert Opin Pharmacother 14:1295-306 (2013)
DOI:10.1517/14656566.2013.797408
Reference
  Authors
Beer PA
  Title
The pathogenesis of essential thrombocythemia.
  Journal
Curr Opin Hematol 18:323-9 (2011)
DOI:10.1097/MOH.0b013e3283497f54
Reference
PMID:22160037 (gene, drug)
  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

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