Disease Detail

ID DOID:2224
Name essential thrombocythemia
Definition A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
Source DiseaseOntology.org
Alt Ids
Path disease disease of cellular proliferation cancer organ system cancer hematologic cancer bone marrow cancer myeloid neoplasm myeloproliferative neoplasm essential thrombocythemia


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Molecular Profile Therapy Indication/Tumor Type Response Type Profile Response Detail
JAK2 V617F BMS-911543 essential thrombocythemia sensitive detail...
TP53 mutant N/A essential thrombocythemia not applicable detail...
IDH2 mutant N/A essential thrombocythemia not applicable detail...
U2AF1 mutant N/A essential thrombocythemia not applicable detail...
SF3B1 mutant N/A essential thrombocythemia not applicable detail...
EZH2 mutant N/A essential thrombocythemia not applicable detail...
Clinical Trial Phase Therapies Title Recruitment Status
NCT03065400 Phase II Pembrolizumab PD-1 Inhibition in Advanced Myeloproliferative Neoplasms Recruiting
NCT03123588 Phase II Ruxolitinib Anagrelide Phase 2 Study of Ruxolitinib Versus Anagrelide in Subjects With Essential Thrombocythemia Who Are Resistant to or Intolerant of Hydroxyurea (RESET-272) Recruiting
NCT03289910 Phase II Carboplatin + Topotecan + Veliparib Carboplatin + Topotecan Topotecan Hydrochloride and Carboplatin With or Without Veliparib in Treating Advanced Myeloproliferative Disorders and Acute Myeloid Leukemia or Chronic Myelomonocytic Leukemia Recruiting
NCT03862157 Phase Ib/II Azacitidine + MLN4924 + Venetoclax Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting