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Thrombocytosis, Autosomal Dominant

MedGen UID:
483581
Concept ID:
C3489628
Disease or Syndrome
Synonyms: Autosomal Dominant Thrombocytoses; Autosomal Dominant Thrombocytosis; Dominant Thrombocytoses, Autosomal; Dominant Thrombocytosis, Autosomal; Thrombocytoses, Autosomal Dominant

Professional guidelines

PubMed

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
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

Recent clinical studies

Etiology

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
Tremblay D
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):660-666. doi: 10.1182/hematology.2023000451. PMID: 38066871Free PMC Article
Godfrey AL, Green AC, Harrison CN
Blood 2023 Apr 20;141(16):1943-1953. doi: 10.1182/blood.2022017625. PMID: 36379024
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
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

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
Babakhanlou R, Masarova L, Verstovsek S
Clin Adv Hematol Oncol 2023 Feb;21(2):76-84. PMID: 36780473
Godfrey AL, Green AC, Harrison CN
Blood 2023 Apr 20;141(16):1943-1953. doi: 10.1182/blood.2022017625. PMID: 36379024
El-Sharkawy F, Margolskee E
Clin Lab Med 2021 Sep;41(3):529-540. doi: 10.1016/j.cll.2021.04.010. PMID: 34304780
Tefferi A, Pardanani A
N Engl J Med 2019 Nov 28;381(22):2135-2144. doi: 10.1056/NEJMcp1816082. PMID: 31774958

Therapy

Tremblay D
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):660-666. doi: 10.1182/hematology.2023000451. PMID: 38066871Free PMC Article
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, Pardanani A
N Engl J Med 2019 Nov 28;381(22):2135-2144. doi: 10.1056/NEJMcp1816082. PMID: 31774958
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
Spivak JL
N Engl J Med 2017 Jun 1;376(22):2168-2181. doi: 10.1056/NEJMra1406186. PMID: 28564565

Prognosis

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
El-Sharkawy F, Margolskee E
Clin Lab Med 2021 Sep;41(3):529-540. doi: 10.1016/j.cll.2021.04.010. PMID: 34304780
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
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
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

Clinical prediction guides

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
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
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
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

Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
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
Titmarsh GJ, Duncombe AS, McMullin MF, O'Rorke M, Mesa R, De Vocht F, Horan S, Fritschi L, Clarke M, Anderson LA
Am J Hematol 2014 Jun;89(6):581-7. doi: 10.1002/ajh.23690. PMID: 24971434
Ranjan A, Penninga E, Jelsig AM, Hasselbalch HC, Bjerrum OW
Clin Genet 2013 Feb;83(2):99-107. Epub 2012 Nov 20 doi: 10.1111/cge.12044. PMID: 23094849
Squizzato A, Romualdi E, Middeldorp S
Cochrane Database Syst Rev 2008 Apr 16;(2):CD006503. doi: 10.1002/14651858.CD006503.pub2. PMID: 18425953

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