Hematologic Malignancy
Acute Myeloid Leukemia with Genetic Abnormalities
CI-CAN-00004303Explore in graph →
- NCIt
- C224900
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Hematologic Malignancy
CI-CAN-00004303Explore in graph →
Variants & evidence
69 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 |
|---|---|---|---|---|---|---|---|---|
| RARA Fusion7 | ||||||||
| (diagnostic) | Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARACURATED_BROADER | Diagnostic | C | Supports Positive | 4 | accepted | EID12288In this study, researchers examined the diagnostic significance of the PML::RARA fusion in acute promyelocytic leukemia (APL, FAB-M3), a subtype of acute myeloid leukemia (AML) associated with the t(1… (full text at CIViC) PMID 38304177 · Santana-Hernández et al., 2024 · Open in CIViC | civic |
| 〃 | Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARACURATED_BROADER | Diagnostic | C | Supports Positive | 4 | accepted | EID12289This study presents a rare case of acute promyelocytic leukemia (APL) characterized by an atypical PML::RARA fusion transcript resulting from the t(15;17) translocation. The patient, a 44-year-old fem… (full text at CIViC) PMID 17934255 · Ismail et al., 2007 · Open in CIViC | civic |
| 〃 | Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARACURATED_BROADER | Diagnostic | C | Supports Positive | 4 | accepted | EID12292In this study, the authors investigated the molecular characteristics of acute promyelocytic leukemia (APL) in patients with atypical PML::RARA fusion transcripts. APL is a rare and aggressive leukemi… (full text at CIViC) PMID 30421475 · Iaccarino et al., 2019 · Open in CIViC | civic |
| Arsenic Trioxide + TretinoinCombination | Acute Promyelocytic Leukemia | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID1091ATRA/Arsenic combined with standard chemotherapy has been shown to induce a complete remission rate of greater than 75% of patients with acute promyelocytic leukemia harboring the PML-RARa fusion. PMID 11704842 · Degos et al., 2001 · Open in CIViC | civic |
| Gemtuzumab Ozogamicin | Acute Promyelocytic Leukemia | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID8300Gemtuzumab ozogamicin (GO) was used in a study to treat 16 patients in various stages of molecular relapsed APL. GO was administered at 6 mg/m2 for 2 doses and RT-PCR was subsequently performed for PM… (full text at CIViC) PMID 15187030 · Lo-Coco et al., 2004 · Open in CIViC | civic |
| Tretinoin | Acute Promyelocytic Leukemia | Predictive | B | Supports Sensitivity Response | 5 | accepted | EID316Fusion protein degradation is accelerated upon ATRA treatment of acute promyelocytic cells at pharmalogical concentrations. PMID 8674046 · Yoshida et al., 1996 · Open in CIViC | civic |
| 〃 | Acute Promyelocytic Leukemia | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1519A 39-year old woman who presented with acute myeloid leukemia revealed a complicated genetic profile using conventional metaphase cytogenetics and FISH analysis. Whole genome sequencing elucidated a … (full text at CIViC) PMID 21505136 · Welch et al., 2011 · Open in CIViC | civic |
| PML A216T + RARA FusionRARAPML1 | ||||||||
| Arsenic Trioxide | Acute Promyelocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8179ive point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these patients was amplified using polymerase chain… (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC | civic |
| PML A216V + RARA FusionRARAPML2 | ||||||||
| Arsenic Trioxide | Acute Promyelocytic Leukemia | Predictive | B | Supports Resistance | 4 | accepted | EID8177Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC | civic |
| Tretinoin | Acute Promyelocytic Leukemia | Predictive | C | Supports Resistance | 4 | accepted | EID1093The mutation A216V in the B2 domain of PML in the PML-RARa fusion was seen in a patient with ATRA-resistant acute promyelocytic leukemia. PMID 21613260 · Goto et al., 2011 · Open in CIViC | civic |
| PML L218P + RARA FusionRARAPML1 | ||||||||
| Tretinoin | Acute Promyelocytic Leukemia | Predictive | C | Supports Resistance | 3 | accepted | EID1094The PML L218P mutation in the PML-RARa fusion was observed in a patient with previously ATRA-treated, relapsed acute promyelocytic leukemia refractory to arsenic trioxide. PMID 21613260 · Goto et al., 2011 · Open in CIViC | civic |
| RARA Fusion + PML S214LRARAPML1 | ||||||||
| Arsenic Trioxide | Acute Promyelocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8178Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC | civic |
| RARA Fusion2 | ||||||||
| (diagnostic) | Acute Promyelocytic Leukemia | Diagnostic | C | Supports Positive | 2 | submitted | EID12613The authors report a case of a 6-year-old child with leukemia and the clinical and morphologic characteristics of acute promyelocytic leukemia (APL), but without evidence of the expected t(15;17) or a… (full text at CIViC) PMID 34432867 · Astolfi et al., 2021 · Open in CIViC | civic |
| 〃 | Acute Promyelocytic Leukemia | Diagnostic | C | Supports Positive | 2 | submitted | EID12627The authors report a TTMV-RARA (viral fusion) in a 39-year-old patient with leukemia and blasts that were APL-like with increased promyelocytes. The fusion was identified by targeted long read sequenc… (full text at CIViC) PMID 35420676 · Sala-Torra et al., 2022 · Open in CIViC | civic |
| RUNX1T1 Fusion5 | ||||||||
| (prognostic) | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Prognostic | A | Supports Better Outcome | 5 | accepted | EID11881This study evaluated the independent prognostic significance of pretreatment cytogenetics based on the large Medical Research Council (MRC) AML 10 trial which enrolled a total of 1,966 patients (364 c… (full text at CIViC) PMID 9746770 · Grimwade et al., 1998 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Diagnostic | A | Supports Positive | 4 | accepted | EID11880This study evaluated the independent prognostic significance of pretreatment cytogenetics based on the large Medical Research Council (MRC) AML 10 trial which enrolled a total of 1,966 patients (364 c… (full text at CIViC) PMID 9746770 · Grimwade et al., 1998 · Open in CIViC | civic |
| 〃 | ||||||||
Data updated 17 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.
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID11878In this 1992 study, the authors isolated a clone containing the junction region of the (8;21)(q22;q22) translocation characteristic for acute myeloid leukemia with t(8;21). Using probes from the junct… (full text at CIViC) PMID 1391946 · Erickson et al., 1992 · Open in CIViC |
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| 〃 | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11879The researchers analyzed immunophenotype in 30 cases of newly diagnosed pediatric acute myeloid leukemia (AML) exhibiting M2 morphology per French-American-British classification. They correlated thes… (full text at CIViC) PMID 1467524 · Hurwitz et al., 1992 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11882The authors of this 1997 paper compared morphologic and cytochemical features between 30 acute myeloid leukemia subtype M2 (AML-M2) patients with t(8;21) and 50 AML-M2 patients without t(8;21). Morp… (full text at CIViC) PMID 9180287 · Nakamura et al., 1997 · Open in CIViC | civic |