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Thrombocythemia 3(THCYT3)

MedGen UID:
482755
Concept ID:
C3281125
Disease or Syndrome
Synonyms: THCYT3; THROMBOCYTHEMIA 3, SOMATIC; THROMBOCYTOSIS 3
 
Gene (location): JAK2 (9p24.1)
 
Monarch Initiative: MONDO:0013794
OMIM®: 614521

Definition

Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). [from OMIM]

Clinical features

From HPO
Ischemic stroke
MedGen UID:
215292
Concept ID:
C0948008
Disease or Syndrome
A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes. Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741). See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519).
Thrombocytosis
MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Increased micromegakaryocyte count
MedGen UID:
1626370
Concept ID:
C4531161
Finding
The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.

Professional guidelines

PubMed

Tefferi A, Alkhateeb H, Gangat N
Blood Cancer J 2023 Jul 18;13(1):108. doi: 10.1038/s41408-023-00878-8. PMID: 37460550Free PMC Article

Recent clinical studies

Etiology

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
Tefferi A, Guglielmelli P, Lasho TL, Coltro G, Finke CM, Loscocco GG, Sordi B, Szuber N, Rotunno G, Pacilli A, Hanson CA, Ketterling RP, Pardanani A, Gangat N, Vannucchi AM
Br J Haematol 2020 Apr;189(2):291-302. Epub 2020 Jan 16 doi: 10.1111/bjh.16380. PMID: 31945802
Tefferi A, Barbui T
Am J Hematol 2019 Jan;94(1):133-143. Epub 2018 Nov 9 doi: 10.1002/ajh.25303. PMID: 30281843
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

Diagnosis

Gerds AT, Gotlib J, Ali H, Bose P, Dunbar A, Elshoury A, George TI, Gundabolu K, Hexner E, Hobbs GS, Jain T, Jamieson C, Kaesberg PR, Kuykendall AT, Madanat Y, McMahon B, Mohan SR, Nadiminti KV, Oh S, Pardanani A, Podoltsev N, Rein L, Salit R, Stein BL, Talpaz M, Vachhani P, Wadleigh M, Wall S, Ward DC, Bergman MA, Hochstetler C
J Natl Compr Canc Netw 2022 Sep;20(9):1033-1062. doi: 10.6004/jnccn.2022.0046. PMID: 36075392
El-Sharkawy F, Margolskee E
Clin Lab Med 2021 Sep;41(3):529-540. doi: 10.1016/j.cll.2021.04.010. PMID: 34304780
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
Tefferi A, Barbui T
Am J Hematol 2019 Jan;94(1):133-143. Epub 2018 Nov 9 doi: 10.1002/ajh.25303. PMID: 30281843

Therapy

Tefferi A, Barbui T
Am J Hematol 2023 Sep;98(9):1465-1487. Epub 2023 Jun 26 doi: 10.1002/ajh.27002. PMID: 37357958
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
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
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
Tefferi A, Barbui T
Am J Hematol 2019 Jan;94(1):133-143. Epub 2018 Nov 9 doi: 10.1002/ajh.25303. PMID: 30281843

Prognosis

Gerds AT, Gotlib J, Ali H, Bose P, Dunbar A, Elshoury A, George TI, Gundabolu K, Hexner E, Hobbs GS, Jain T, Jamieson C, Kaesberg PR, Kuykendall AT, Madanat Y, McMahon B, Mohan SR, Nadiminti KV, Oh S, Pardanani A, Podoltsev N, Rein L, Salit R, Stein BL, Talpaz M, Vachhani P, Wadleigh M, Wall S, Ward DC, Bergman MA, Hochstetler C
J Natl Compr Canc Netw 2022 Sep;20(9):1033-1062. doi: 10.6004/jnccn.2022.0046. PMID: 36075392
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
Tefferi A, Guglielmelli P, Lasho TL, Coltro G, Finke CM, Loscocco GG, Sordi B, Szuber N, Rotunno G, Pacilli A, Hanson CA, Ketterling RP, Pardanani A, Gangat N, Vannucchi AM
Br J Haematol 2020 Apr;189(2):291-302. Epub 2020 Jan 16 doi: 10.1111/bjh.16380. PMID: 31945802
Tefferi A, Guglielmelli P, Larson DR, Finke C, Wassie EA, Pieri L, Gangat N, Fjerza R, Belachew AA, Lasho TL, Ketterling RP, Hanson CA, Rambaldi A, Finazzi G, Thiele J, Barbui T, Pardanani A, Vannucchi AM
Blood 2014 Oct 16;124(16):2507-13; quiz 2615. Epub 2014 Jul 18 doi: 10.1182/blood-2014-05-579136. PMID: 25037629Free PMC Article

Clinical prediction guides

Tefferi A, Barbui T
Am J Hematol 2023 Sep;98(9):1465-1487. Epub 2023 Jun 26 doi: 10.1002/ajh.27002. PMID: 37357958
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Morsia E, Gangat N
Curr Hematol Malig Rep 2022 Feb;17(1):46-51. Epub 2021 Nov 13 doi: 10.1007/s11899-021-00660-2. PMID: 34773576
Tefferi A, Guglielmelli P, Lasho TL, Coltro G, Finke CM, Loscocco GG, Sordi B, Szuber N, Rotunno G, Pacilli A, Hanson CA, Ketterling RP, Pardanani A, Gangat N, Vannucchi AM
Br J Haematol 2020 Apr;189(2):291-302. Epub 2020 Jan 16 doi: 10.1111/bjh.16380. PMID: 31945802
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

Recent systematic reviews

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
Sayar Z, Nallamilli S, Efthymiou M, Lambert J, Cohen H
Lupus 2021 Aug;30(9):1502-1508. Epub 2021 Jul 1 doi: 10.1177/09612033211021154. PMID: 34192956
Carobbio A, Ferrari A, Masciulli A, Ghirardi A, Barosi G, Barbui T
Blood Adv 2019 Jun 11;3(11):1729-1737. doi: 10.1182/bloodadvances.2019000211. PMID: 31175128Free PMC Article
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
Saki N, Shirzad R, Rahim F, Saki Malehi A
Clin Transl Oncol 2017 Jul;19(7):874-883. Epub 2017 Feb 15 doi: 10.1007/s12094-017-1618-1. PMID: 28205126

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