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Essential thrombocythemia

MedGen UID:
11797
•Concept ID:
C0040028
•
Disease or Syndrome
Synonyms: essential thrombocytemia; Suspected essential thromboythemia
SNOMED CT: Idiopathic thrombocythemia (128844009); Idiopathic hemorrhagic thrombocythemia (128844009); Essential hemorrhagic thrombocythemia (128844009); Essential thrombocythemia (128844009); Essential thrombocythemia (109994006); Idiopathic thrombocythemia (109994006); Essential thrombocytosis (109994006); Primary thrombocythemia (128844009); Essential thrombocythemia (clinical disorder) (109994006)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: SH2B3, THPO, MPL, JAK2, CALR
 
Monarch Initiative: MONDO:0005029
Orphanet: ORPHA3318

Definition

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Essential thrombocythemia in Orphanet.

Professional guidelines

PubMed

Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management.
Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myeloproliferative Neoplasms, 2023

Recent clinical studies

Etiology

Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management.
Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Cytoreduction for ET and PV: who, what, when, and how?
Tremblay D
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):660-666. doi: 10.1182/hematology.2023000451. PMID: 38066871Free PMC Article
Essential thrombocythemia: challenges in clinical practice and future prospects.
Godfrey AL, Green AC, Harrison CN
Blood 2023 Apr 20;141(16):1943-1953. doi: 10.1182/blood.2022017625. PMID: 36379024
Myeloproliferative disorders.
Meier B, Burton JH
Emerg Med Clin North Am 2014 Aug;32(3):597-612. Epub 2014 Jun 7 doi: 10.1016/j.emc.2014.04.014. PMID: 25060252
Somatic mutations of calreticulin in myeloproliferative neoplasms.
Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R
N Engl J Med 2013 Dec 19;369(25):2379-90. Epub 2013 Dec 10 doi: 10.1056/NEJMoa1311347. PMID: 24325356

Diagnosis

Cytoreduction for ET and PV: who, what, when, and how?
Tremblay D
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):660-666. doi: 10.1182/hematology.2023000451. PMID: 38066871Free PMC Article
Essential thrombocythemia: challenges in clinical practice and future prospects.
Godfrey AL, Green AC, Harrison CN
Blood 2023 Apr 20;141(16):1943-1953. doi: 10.1182/blood.2022017625. PMID: 36379024
Essential Thrombocythemia.
Tefferi A, Pardanani A
N Engl J Med 2019 Nov 28;381(22):2135-2144. doi: 10.1056/NEJMcp1816082. PMID: 31774958
Myeloproliferative Disorders.
Meier B, Burton JH
Hematol Oncol Clin North Am 2017 Dec;31(6):1029-1044. doi: 10.1016/j.hoc.2017.08.007. PMID: 29078922
Myeloproliferative disorders.
Meier B, Burton JH
Emerg Med Clin North Am 2014 Aug;32(3):597-612. Epub 2014 Jun 7 doi: 10.1016/j.emc.2014.04.014. PMID: 25060252

Therapy

Cytoreduction for ET and PV: who, what, when, and how?
Tremblay D
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):660-666. doi: 10.1182/hematology.2023000451. PMID: 38066871Free PMC Article
Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
A randomized phase 3 trial of interferon-α vs hydroxyurea in polycythemia vera and essential thrombocythemia.
Mascarenhas J, Kosiorek HE, Prchal JT, Rambaldi A, Berenzon D, Yacoub A, Harrison CN, McMullin MF, Vannucchi AM, Ewing J, O'Connell CL, Kiladjian JJ, Mead AJ, Winton EF, Leibowitz DS, De Stefano V, Arcasoy MO, Kessler CM, Catchatourian R, Rondelli D, Silver RT, Bacigalupo A, Nagler A, Kremyanskaya M, Levine MF, Arango Ossa JE, McGovern E, Sandy L, Salama ME, Najfeld V, Tripodi J, Farnoud N, Penson AV, Weinberg RS, Price L, Goldberg JD, Barbui T, Marchioli R, Tognoni G, Rampal RK, Mesa RA, Dueck AC, Hoffman R
Blood 2022 May 12;139(19):2931-2941. doi: 10.1182/blood.2021012743. PMID: 35007321Free PMC Article
Essential Thrombocythemia.
Tefferi A, Pardanani A
N Engl J Med 2019 Nov 28;381(22):2135-2144. doi: 10.1056/NEJMcp1816082. PMID: 31774958
Ruxolitinib vs best available therapy for ET intolerant or resistant to hydroxycarbamide.
Harrison CN, Mead AJ, Panchal A, Fox S, Yap C, Gbandi E, Houlton A, Alimam S, Ewing J, Wood M, Chen F, Coppell J, Panoskaltsis N, Knapper S, Ali S, Hamblin A, Scherber R, Dueck AC, Cross NCP, Mesa R, McMullin MF
Blood 2017 Oct 26;130(17):1889-1897. Epub 2017 Aug 9 doi: 10.1182/blood-2017-05-785790. PMID: 29074595Free PMC Article

Prognosis

Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management.
Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Understanding triple negative myeloproliferative neoplasms: pathogenesis, clinical features, and management.
Tharakan S, Mascarenhas J, Tremblay D
Leuk Lymphoma 2024 Feb;65(2):158-167. Epub 2024 Jan 24 doi: 10.1080/10428194.2023.2277674. PMID: 38033130
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management.
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union.
Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA
Eur J Haematol 2014 Apr;92(4):289-97. Epub 2014 Feb 3 doi: 10.1111/ejh.12256. PMID: 24372927

Clinical prediction guides

Clinical impact of mutated JAK2 allele burden reduction in polycythemia vera and essential thrombocythemia.
Guglielmelli P, Mora B, Gesullo F, Mannelli F, Loscocco GG, Signori L, Pessina C, Colugnat I, Aquila R, Balliu M, Maccari C, Romagnoli S, Paoli C, Nacca E, Fagiolo L, Maffioli M, Barbui T, Passamonti F, Vannucchi AM
Am J Hematol 2024 Aug;99(8):1550-1559. Epub 2024 Jun 6 doi: 10.1002/ajh.27400. PMID: 38841874
Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union.
Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA
Eur J Haematol 2014 Apr;92(4):289-97. Epub 2014 Feb 3 doi: 10.1111/ejh.12256. PMID: 24372927
Revised response criteria for polycythemia vera and essential thrombocythemia: an ELN and IWG-MRT consensus project.
Barosi G, Mesa R, Finazzi G, Harrison C, Kiladjian JJ, Lengfelder E, McMullin MF, Passamonti F, Vannucchi AM, Besses C, Gisslinger H, Samuelsson J, Verstovsek S, Hoffman R, Pardanani A, Cervantes F, Tefferi A, Barbui T
Blood 2013 Jun 6;121(23):4778-81. Epub 2013 Apr 16 doi: 10.1182/blood-2013-01-478891. PMID: 23591792Free PMC Article

Recent systematic reviews

Management of Myeloproliferative Neoplasms (MPNs).
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
Platelet Function and Turnover in Essential Thrombocythemia: A Systematic Review.
Kvernberg J, Grove EL, Ommen HB, Hvas AM
Semin Thromb Hemost 2021 Feb;47(1):90-101. Epub 2021 Feb 1 doi: 10.1055/s-0040-1718873. PMID: 33525042
Interferon alpha therapy in essential thrombocythemia and polycythemia vera-a systematic review and meta-analysis.
Bewersdorf JP, Giri S, Wang R, Podoltsev N, Williams RT, Tallman MS, Rampal RK, Zeidan AM, Stahl M
Leukemia 2021 Jun;35(6):1643-1660. Epub 2020 Sep 1 doi: 10.1038/s41375-020-01020-4. PMID: 32868875Free PMC Article
Benefits and Risks of Antithrombotic Therapy in Essential Thrombocythemia: A Systematic Review.
Chu DK, Hillis CM, Leong DP, Anand SS, Siegal DM
Ann Intern Med 2017 Aug 1;167(3):170-180. Epub 2017 Jun 27 doi: 10.7326/M17-0284. PMID: 28632284
A systematic review of the fetal safety of interferon alpha.
Yazdani Brojeni P, Matok I, Garcia Bournissen F, Koren G
Reprod Toxicol 2012 Jun;33(3):265-8. Epub 2011 Dec 19 doi: 10.1016/j.reprotox.2011.11.003. PMID: 22200624

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myeloproliferative Neoplasms, 2023

    Reviews

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