Hematologic Malignancy
Megakaryocytic Neoplasm
CI-CAN-00001205Explore in graph →
- NCIt
- C7066
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Hematologic Malignancy
CI-CAN-00001205Explore in graph →
Variants & evidence
10 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CALR EXON 9 FRAMESHIFT3 | ||||||||
| (prognostic) | Essential Thrombocythemia | Prognostic | B | Supports Better Outcome | 3 | submitted | EID6387In a study of 402 patients with essential thrombocythemia, 227 harbored JAK2 mutations and 114 harbored CALR mutations (51 type 1 L367fs*46 and 44 type 2 K385fs*47). Overall survival did not differ be… (full text at CIViC) PMID 24753125 · Tefferi et al., 2014 · Open in CIViC | civic |
| 〃 | Essential Thrombocythemia | Prognostic | B | Does Not Support Poor Outcome | 2 | submitted | EID6389In the subset of patients with essential thrombocythemia (including potential unidentified prefibrotic stage of myelofibrosis), patients with type 1 L367fs*46 mutations (N=111) had no significant diff… (full text at CIViC) PMID 25212275 · Cabagnols et al., 2015 · Open in CIViC | civic |
| Peginterferon Alfa-2a | Essential Thrombocythemia | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID1482Study explored the hematologic and molecular responses in a cohort of 31 patients presenting with thrombocythemia and CALR exon 9 frameshift mutations. All 31 patients exhibited a hematologic response… (full text at CIViC) PMID 26486786 · Verger et al., 2015 · Open in CIViC | civic |
| CALR Mutation1 | ||||||||
| (diagnostic) | Essential Thrombocythemia | Diagnostic | A | Supports Positive | 5 | accepted | EID6382Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016. PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| GLIS2 Fusion2 | ||||||||
| (prognostic) | Childhood Acute Megakaryoblastic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8503Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC) PMID 27114462 · de Rooij et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Megakaryoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8551The authors studied non-Down syndrome acute megakaryoblastic leukemia (non-DS-AMKL). Transcriptome sequencing was performed on diagnostic blasts from 14 patients. Validation cohort consisted of 34 ped… (full text at CIViC) PMID 23153540 · Gruber et al., 2012 · Open in CIViC | civic |
| MPL Mutation1 | ||||||||
| (diagnostic) | Essential Thrombocythemia | Diagnostic | A | Supports Positive | 5 | submitted | EID6383Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016. PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| KDM5A Fusion1 | ||||||||
| (prognostic) | Acute Megakaryoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8502Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC) PMID 27114462 · de Rooij et al., 2016 · Open in CIViC | civic |
| MRTFA Fusion2 | ||||||||
| (prognostic) | Acute Megakaryoblastic LeukemiaALIAS | Prognostic | B | Supports Better Outcome | 4 | submitted | EID8512AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL, is a defined subgroup of AML in the WHO 2016 classification of myeloid neoplasms and acute leukemias. In this manuscript by O'Brien et al, o… (full text at CIViC) PMID 22918081 · O'Brien et al., 2013 · Open in CIViC | civic |
| 〃 | Acute Megakaryoblastic LeukemiaALIAS | Prognostic | B | Supports Better Outcome | 4 | submitted | EID8514In this manuscript, data and clinical samples from 153 newly diagnosed non-Down syndrome pediatric AMKL cases were analyzed. Patients samples were screened for the recurrent molecular aberrations in N… (full text at CIViC) PMID 27114462 · de Rooij et al., 2016 · Open in CIViC | civic |
Data updated 23 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.