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Essential thrombocythemia(THCYT1)

MedGen UID:
479301
Concept ID:
C3277671
Disease or Syndrome
Synonyms: Essential thrombocytosis; Hemorrhagic thrombocythemia; Idiopathic thrombocythemia; MPL-Related Essential Thrombocythemia; Primary thrombocythemia; THCYT1; THPO-Related Essential Thrombocythemia; THROMBOCYTHEMIA 1; THROMBOCYTHEMIA, SOMATIC; THROMBOCYTOSIS 1
 
Genes (locations): CALR (19p13.13); SH2B3 (12q24.12); THPO (3q27.1)
OMIM®: 187950

Definition

Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). Genetic Heterogeneity of Thrombocythemia THCYT2 (601977) is caused by germline or somatic mutation in the THPO receptor gene (MPL; 159530) on chromosome 1p34; THCYT3 (614521) is caused by germline or somatic mutation in the JAK2 gene (147796) on chromosome 9p; and a possible X-linked form (THCYTX; 300331) has been reported. Somatic mutations in the TET2 (612839), ASXL1 (612990), SH2B3 (605093), and SF3B1 (605590) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene (109091) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations (Klampfl et al., 2013; Nangalia et al., 2013). [from OMIM]

Additional description

From GHR
Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. Thrombosis in the legs can cause leg pain, swelling, or both. In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea).Another problem in essential thrombocythemia is abnormal bleeding, which occurs more often in people with a very high number of platelets. Affected people may have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is thought that bleeding occurs because a specific protein in the blood that helps with clotting is reduced, although why the protein is reduced is unclear.Other signs and symptoms of essential thrombocythemia include an enlarged spleen (splenomegaly); weakness; headaches; or a sensation in the skin of burning, tingling, or prickling. Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet.  https://ghr.nlm.nih.gov/condition/essential-thrombocythemia

Recent clinical studies

Etiology

Hashimoto Y, Nakamae H, Tanaka T, Omura H, Horiuchi M, Yoshimura T, Takakuwa T, Mugitani A, Hirose A, Nakamae M, Koh H, Hino M
Eur J Haematol 2018 Oct;101(4):508-513. Epub 2018 Aug 31 doi: 10.1111/ejh.13136. PMID: 29971894
Zhou D, Chen W, Cheng H, Qiao JL, Zhu LL, Li ZY, Xu KL
Leuk Res 2018 Jun;69:1-6. Epub 2018 Mar 27 doi: 10.1016/j.leukres.2018.03.013. PMID: 29609040
Tong D, Yu M, Guo L, Li T, Li J, Novakovic VA, Dong Z, Tian Y, Kou J, Bi Y, Wang J, Zhou J, Shi J
Ann Hematol 2018 Apr;97(4):605-616. Epub 2018 Jan 13 doi: 10.1007/s00277-018-3228-6. PMID: 29332224
Vannucchi AM, Guglielmelli P, Tefferi A
Curr Opin Hematol 2018 Mar;25(2):112-119. doi: 10.1097/MOH.0000000000000402. PMID: 29194068
Mela Osorio MJ, Ferrari L, Goette NP, Gutierrez MI, Glembotsky AC, Maldonado AC, Lev PR, Alvarez C, Korin L, Marta RF, Molinas FC, Heller PG
Eur J Haematol 2016 Apr;96(4):435-42. Epub 2015 Jul 19 doi: 10.1111/ejh.12614. PMID: 26119186

Diagnosis

Yuzaki M, Honda K, Kaneko M, Nakai T, Kunimoto H, Nishimura Y
Asian Cardiovasc Thorac Ann 2019 Feb;27(2):118-120. Epub 2018 Jul 8 doi: 10.1177/0218492318788152. PMID: 29984585
Zhou D, Chen W, Cheng H, Qiao JL, Zhu LL, Li ZY, Xu KL
Leuk Res 2018 Jun;69:1-6. Epub 2018 Mar 27 doi: 10.1016/j.leukres.2018.03.013. PMID: 29609040
Mangaonkar AA, Hoversten KP, Gangat N
Expert Rev Hematol 2018 Mar;11(3):247-252. Epub 2018 Jan 20 doi: 10.1080/17474086.2018.1426455. PMID: 29313725
Vannucchi AM, Guglielmelli P, Tefferi A
Curr Opin Hematol 2018 Mar;25(2):112-119. doi: 10.1097/MOH.0000000000000402. PMID: 29194068
Gadomska G, Stankowska K, Boinska J, Bartoszewska-Kubiak A, Haus O, Rość D
Blood Coagul Fibrinolysis 2016 Oct;27(7):817-821. doi: 10.1097/MBC.0000000000000551. PMID: 26945263

Therapy

Kanakura Y, Shirasugi Y, Yamaguchi H, Koike M, Chou T, Okamoto S, Achenbach H, Wu J, Nakaseko C
Int J Hematol 2018 Nov;108(5):491-498. Epub 2018 Aug 18 doi: 10.1007/s12185-018-2510-7. PMID: 30121892
Buxhofer-Ausch V, Steurer M, Sormann S, Schloegl E, Schimetta W, Gisslinger B, Ruckser R, Gastl G, Gisslinger H
Eur J Haematol 2016 Dec;97(6):511-516. Epub 2016 May 23 doi: 10.1111/ejh.12759. PMID: 27037858
Treliński J, Okońska M, Robak M, Chojnowski K
Blood Coagul Fibrinolysis 2016 Mar;27(2):205-9. doi: 10.1097/MBC.0000000000000421. PMID: 26829283
Villani M, Colaizzo D, Tiscia GL, Chinni E, Bodenizza C, Cascavilla N, Grandone E
Blood Coagul Fibrinolysis 2016 Sep;27(6):727-8. doi: 10.1097/MBC.0000000000000473. PMID: 26650457
Mela Osorio MJ, Ferrari L, Goette NP, Gutierrez MI, Glembotsky AC, Maldonado AC, Lev PR, Alvarez C, Korin L, Marta RF, Molinas FC, Heller PG
Eur J Haematol 2016 Apr;96(4):435-42. Epub 2015 Jul 19 doi: 10.1111/ejh.12614. PMID: 26119186

Prognosis

Hashimoto Y, Nakamae H, Tanaka T, Omura H, Horiuchi M, Yoshimura T, Takakuwa T, Mugitani A, Hirose A, Nakamae M, Koh H, Hino M
Eur J Haematol 2018 Oct;101(4):508-513. Epub 2018 Aug 31 doi: 10.1111/ejh.13136. PMID: 29971894
Zhou D, Chen W, Cheng H, Qiao JL, Zhu LL, Li ZY, Xu KL
Leuk Res 2018 Jun;69:1-6. Epub 2018 Mar 27 doi: 10.1016/j.leukres.2018.03.013. PMID: 29609040
Mangaonkar AA, Hoversten KP, Gangat N
Expert Rev Hematol 2018 Mar;11(3):247-252. Epub 2018 Jan 20 doi: 10.1080/17474086.2018.1426455. PMID: 29313725
Vannucchi AM, Guglielmelli P, Tefferi A
Curr Opin Hematol 2018 Mar;25(2):112-119. doi: 10.1097/MOH.0000000000000402. PMID: 29194068
Mela Osorio MJ, Ferrari L, Goette NP, Gutierrez MI, Glembotsky AC, Maldonado AC, Lev PR, Alvarez C, Korin L, Marta RF, Molinas FC, Heller PG
Eur J Haematol 2016 Apr;96(4):435-42. Epub 2015 Jul 19 doi: 10.1111/ejh.12614. PMID: 26119186

Clinical prediction guides

Hashimoto Y, Nakamae H, Tanaka T, Omura H, Horiuchi M, Yoshimura T, Takakuwa T, Mugitani A, Hirose A, Nakamae M, Koh H, Hino M
Eur J Haematol 2018 Oct;101(4):508-513. Epub 2018 Aug 31 doi: 10.1111/ejh.13136. PMID: 29971894
Zhou D, Chen W, Cheng H, Qiao JL, Zhu LL, Li ZY, Xu KL
Leuk Res 2018 Jun;69:1-6. Epub 2018 Mar 27 doi: 10.1016/j.leukres.2018.03.013. PMID: 29609040
Mangaonkar AA, Hoversten KP, Gangat N
Expert Rev Hematol 2018 Mar;11(3):247-252. Epub 2018 Jan 20 doi: 10.1080/17474086.2018.1426455. PMID: 29313725
Alvarez-Larrán A, Pereira A, Guglielmelli P, Hernández-Boluda JC, Arellano-Rodrigo E, Ferrer-Marín F, Samah A, Griesshammer M, Kerguelen A, Andreasson B, Burgaleta C, Schwarz J, García-Gutiérrez V, Ayala R, Barba P, Gómez-Casares MT, Paoli C, Drexler B, Zweegman S, McMullin MF, Samuelsson J, Harrison C, Cervantes F, Vannucchi AM, Besses C
Haematologica 2016 Aug;101(8):926-31. Epub 2016 May 12 doi: 10.3324/haematol.2016.146654. PMID: 27175028Free PMC Article
Gadomska G, Stankowska K, Boinska J, Bartoszewska-Kubiak A, Haus O, Rość D
Blood Coagul Fibrinolysis 2016 Oct;27(7):817-821. doi: 10.1097/MBC.0000000000000551. PMID: 26945263

Recent systematic reviews

Zhu Y, Jiang H, Chen Z, Lu B, Wu J
Medicine (Baltimore) 2017 Nov;96(47):e8856. doi: 10.1097/MD.0000000000008856. PMID: 29381999Free 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
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
Dahabreh IJ, Zoi K, Giannouli S, Zoi C, Loukopoulos D, Voulgarelis M
Leuk Res 2009 Jan;33(1):67-73. Epub 2008 Jul 15 doi: 10.1016/j.leukres.2008.06.006. PMID: 18632151

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