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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
Elliott MA, Tefferi A
Best Pract Res Clin Haematol 2003 Jun;16(2):227-42. doi: 10.1016/s1521-6926(03)00019-7. PMID: 12763489

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
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
Double G, Harrison C
Hematology 2015 Mar;20(2):119-20. doi: 10.1179/1024533215Z.000000000349. PMID: 25715049
Publicover A, Medd P
Clin Med (Lond) 2013 Apr;13(2):188-92. doi: 10.7861/clinmedicine.13-2-188. PMID: 23681871Free PMC Article

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
Valentine RM, Barkhuizen A, Roberts R, Ford C, Gama R
J Appl Lab Med 2019 May;3(6):1049-1053. Epub 2018 Jun 27 doi: 10.1373/jalm.2018.026336. PMID: 31639696
Maffioli M, Orlandi E, Passamonti F
Eur J Intern Med 2018 Dec;58:33-42. Epub 2018 May 22 doi: 10.1016/j.ejim.2018.05.005. PMID: 29793825
Double G, Harrison C
Hematology 2015 Mar;20(2):119-20. doi: 10.1179/1024533215Z.000000000349. PMID: 25715049

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
Fahdrin A, Sampepajung E, Pieter J, Kasim F, Smaradhania N, Prihantono P, Mariana N, Sampepajung D, Faruk M
Breast Dis 2022;41(1):489-493. doi: 10.3233/BD-229007. PMID: 36641658
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
Publicover A, Medd P
Clin Med (Lond) 2013 Apr;13(2):188-92. doi: 10.7861/clinmedicine.13-2-188. PMID: 23681871Free PMC Article

Clinical prediction guides

Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui LC, Berthelet J, Laurent A, Crickx E, Parlato M, Stolzenberg MC, Suarez F, Leverger G, Aladjidi N, Collardeau-Frachon S, Pietrement C, Malphettes M, Froissart A, Bole-Feysot C, Cagnard N, Rodrigues Lima F, Walzer T, Rieux-Laucat F, Belot A, Mathieu AL
J Exp Med 2024 Sep 2;221(9) Epub 2024 Jul 19 doi: 10.1084/jem.20232337. PMID: 39028869Free PMC Article
Edahiro Y, Ochiai T, Hashimoto Y, Ichii M, Okatani T, Omura H, Nakajima K, Sasaki M, Ando J, Takaku T, Koike M, Izumiyama K, Hiraga J, Yano T, Usuki K, Ohtsuka E, Yokoyama K, Oyake T, Takahashi N, Nishida T, Nakao T, Fukuda Y, Akasaka T, Mugitani A, Ando M, Komatsu N
Hematology 2024 Dec;29(1):2340149. Epub 2024 Apr 16 doi: 10.1080/16078454.2024.2340149. PMID: 38626148
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
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
Tarach JS, Nowicka-Tarach BM
Med Sci Monit 2000 Mar-Apr;6(2):421-5. PMID: 11208349

Recent systematic reviews

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
Wang YH, Deng SJ, Yang YD, Yao N, Zhao JM, Min GT, Wang J, Xu TF, Zhao PY, Wang HP, Chen W
Biomark Med 2017 Feb;11(2):195-210. Epub 2017 Jan 18 doi: 10.2217/bmm-2016-0214. PMID: 28097884
Skeith L, Carrier M, Robinson SE, Alimam S, Rodger MA
Blood 2017 Feb 23;129(8):934-939. Epub 2017 Jan 3 doi: 10.1182/blood-2016-09-728006. PMID: 28049641
Qi X, Wu F, Ren W, He C, Yin Z, Niu J, Bai M, Yang Z, Wu K, Fan D, Han G
Thromb Haemost 2013 May;109(5):878-84. Epub 2013 Feb 28 doi: 10.1160/TH12-10-0784. PMID: 23447059
Watson HG, Chee YL
Blood Rev 2008 Mar;22(2):107-16. Epub 2008 Jan 15 doi: 10.1016/j.blre.2007.11.001. PMID: 18226435

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