U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thrombocythemia 2(THCYT2)

MedGen UID:
477629
Concept ID:
C3275998
Disease or Syndrome
Synonyms: THROMBOCYTHEMIA 2, SUSCEPTIBILITY TO; Thrombocytosis, benign familial microcytic
 
Gene (location): MPL (1p34.2)
 
Monarch Initiative: MONDO:0011173
OMIM®: 601977

Definition

Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene. [from MONDO]

Clinical features

From HPO
Thrombocytosis
MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Increased megakaryocyte count
MedGen UID:
870733
Concept ID:
C4025187
Finding
Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.

Professional guidelines

PubMed

Schwarz J, Pytlík R, Doubek M, Brychtová Y, Dulícek P, Campr V, Kren L, Penka M
Semin Thromb Hemost 2006 Apr;32(3):231-45. doi: 10.1055/s-2006-939434. PMID: 16673277

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
Godfrey AL, Green AC, Harrison CN
Blood 2023 Apr 20;141(16):1943-1953. doi: 10.1182/blood.2022017625. PMID: 36379024
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

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
Babacan A, Şenol FF
Rev Assoc Med Bras (1992) 2023;69(6):e20230020. Epub 2023 May 29 doi: 10.1590/1806-9282.20230020. PMID: 37255084Free PMC Article
Godfrey AL, Green AC, Harrison CN
Blood 2023 Apr 20;141(16):1943-1953. doi: 10.1182/blood.2022017625. PMID: 36379024
Stockklausner C, Duffert CM, Cario H, Knöfler R, Streif W, Kulozik AE; THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH)
Ann Hematol 2021 Jul;100(7):1647-1665. Epub 2021 Mar 12 doi: 10.1007/s00277-021-04485-0. PMID: 33712866Free PMC Article
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

Stockklausner C, Duffert CM, Cario H, Knöfler R, Streif W, Kulozik AE; THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH)
Ann Hematol 2021 Jul;100(7):1647-1665. Epub 2021 Mar 12 doi: 10.1007/s00277-021-04485-0. PMID: 33712866Free 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
Masarova L, Verstovsek S
Expert Opin Emerg Drugs 2019 Jun;24(2):93-105. Epub 2019 May 14 doi: 10.1080/14728214.2019.1615437. PMID: 31050912
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
Vannucchi AM, Harrison CN
Blood 2017 Feb 9;129(6):693-703. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695965. PMID: 28028027

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
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
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

Clinical prediction guides

Giannakeas V, Narod SA
JAMA Netw Open 2021 Aug 2;4(8):e2120633. doi: 10.1001/jamanetworkopen.2021.20633. PMID: 34383058
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
Bose P, Gotlib J, Harrison CN, Verstovsek S
Clin Lymphoma Myeloma Leuk 2018 Jan;18(1):1-12. doi: 10.1016/j.clml.2017.11.008. PMID: 29277359Free PMC Article
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

Recent systematic reviews

Gu D, Szallasi A
Anticancer Res 2017 Sep;37(9):4717-4726. doi: 10.21873/anticanres.11878. PMID: 28870890
Cheng J, Zeng Z, Ye Q, Zhang Y, Yan R, Liang C, Wang J, Li M, Yi M
Oncotarget 2017 Apr 11;8(15):24327-24336. doi: 10.18632/oncotarget.15358. PMID: 28212582Free PMC Article
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...