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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
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
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
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
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

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
Vannucchi AM, Guglielmelli P, Tefferi A
Curr Opin Hematol 2018 Mar;25(2):112-119. doi: 10.1097/MOH.0000000000000402. PMID: 29194068
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

Clinical prediction guides

Vannucchi AM, Guglielmelli P
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):225-234. doi: 10.1182/hematology.2022000339. PMID: 36485130Free PMC Article
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
Finazzi G, Vannucchi AM, Barbui T
Blood Cancer J 2018 Nov 7;8(11):104. doi: 10.1038/s41408-018-0142-z. PMID: 30405096Free 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

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
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
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
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
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

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