DISEASE: Essential thrombocytosis

Entry

H01612                      Disease

Name

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

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
   3B63  Thrombocytosis
    H01612  Essential thrombocytosis

Related
pathway

hsa04630

JAK-STAT signaling pathway

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]

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

» Japanese version

All links

Disease (3)   
   OMIM (3)   
Drug (2)   
   KEGG DRUG (2)   
Gene (10)   
   KEGG ORTHOLOGY (5)   
   KEGG GENES (5)   
Literature (5)   
   PubMed (5)   
All databases (20)   

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