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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

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
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

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
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
Current management strategies for polycythemia vera and essential thrombocythemia.
Guglielmelli P, Vannucchi AM
Blood Rev 2020 Jul;42:100714. Epub 2020 Jun 3 doi: 10.1016/j.blre.2020.100714. PMID: 32546373
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
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

Diagnosis

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
Pediatric Myeloproliferative Neoplasms.
El-Sharkawy F, Margolskee E
Clin Lab Med 2021 Sep;41(3):529-540. doi: 10.1016/j.cll.2021.04.010. PMID: 34304780
Current management strategies for polycythemia vera and essential thrombocythemia.
Guglielmelli P, Vannucchi AM
Blood Rev 2020 Jul;42:100714. Epub 2020 Jun 3 doi: 10.1016/j.blre.2020.100714. PMID: 32546373
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

Therapy

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
Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management.
Tefferi A, Barbui T
Am J Hematol 2019 Jan;94(1):133-143. Epub 2018 Nov 9 doi: 10.1002/ajh.25303. PMID: 30281843
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
Pediatric Myeloproliferative Neoplasms.
El-Sharkawy F, Margolskee E
Clin Lab Med 2021 Sep;41(3):529-540. doi: 10.1016/j.cll.2021.04.010. PMID: 34304780
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
JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis.
Harrison C, Kiladjian JJ, Al-Ali HK, Gisslinger H, Waltzman R, Stalbovskaya V, McQuitty M, Hunter DS, Levy R, Knoops L, Cervantes F, Vannucchi AM, Barbui T, Barosi G
N Engl J Med 2012 Mar 1;366(9):787-98. doi: 10.1056/NEJMoa1110556. PMID: 22375970

Clinical prediction guides

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
Current management strategies for polycythemia vera and essential thrombocythemia.
Guglielmelli P, Vannucchi AM
Blood Rev 2020 Jul;42:100714. Epub 2020 Jun 3 doi: 10.1016/j.blre.2020.100714. PMID: 32546373
A clinical-molecular prognostic model to predict survival in patients with post polycythemia vera and post essential thrombocythemia myelofibrosis.
Passamonti F, Giorgino T, Mora B, Guglielmelli P, Rumi E, Maffioli M, Rambaldi A, Caramella M, Komrokji R, Gotlib J, Kiladjian JJ, Cervantes F, Devos T, Palandri F, De Stefano V, Ruggeri M, Silver RT, Benevolo G, Albano F, Caramazza D, Merli M, Pietra D, Casalone R, Rotunno G, Barbui T, Cazzola M, Vannucchi AM
Leukemia 2017 Dec;31(12):2726-2731. Epub 2017 May 31 doi: 10.1038/leu.2017.169. PMID: 28561069
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

Incidence of Thrombosis at Different Sites During the Follow-Up Period in Essential Thrombocythemia: A Systematic Review and Meta-Analysis.
Wang D, Yu X, Sun Y, Lv Y, Li Y, Zhao P, Niu J, Zhang Y, Chen Y, Chen K, Chen Z, Liu W, Wang M, Hu X
Clin Appl Thromb Hemost 2023 Jan-Dec;29:10760296231181117. doi: 10.1177/10760296231181117. PMID: 37350087Free PMC Article
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

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      Clinical tests in GTR
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