Clinical trial · Observational
IDH1/IDH2 Mutation Frequency in Acute Myeloblastic Patients
STUDY TITLE IDH1/IDH2 Mutation Frequency in Acute Myeloblastic Patients and Myelodysplasticsyndromes, Clinical Response to Treatment
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This leukemia is characterized by a poor prognosis for most patients, as they have a high relapse rate despite aggressive treatment with chemotherapy agents and allogeneic bone marrow transplantation. It has been proposed that relapse can be attributed to a leukemic cells population with quiescence properties that are resistant to chemotherapy, known as leukemic stem cells (LSCs). Clinical trials shown a major LSCs percentage than diagnosis correlated with worst prognosis or minimal residual disease with AML. AML is most common in adults and represents about 40% of all leukemia types in American Continent. In Mexican patients with AML age median is 32 years, lower than other international series. Genomic and functional studies have identified two classes of mutations, which cooperate during AML development. Somatic mutations have been identified recently that codify for isocitrate dehydrogenase (IDH). These genes codify key metabolic enzymes, which convert isocitrate into α-ketoglutarate (α-KG).15-16From which IDH1 and IDH2 genes presenta high frequency of mutations in AML and other types of tumors. IDH mutations affect mainly active site residues (for example, IDH1 R132, IDH2 R140 or IDH2 R172), resulting in the normal enzymatic function loss abnormally converting α-KG to 2-hydroxiglutarate (2-HG). "Oncometabolyte" 2-HG may competitively inhibit multiple α-KG depending dioxygenases, including key epigenetic regulators as histones demethylases and TET proteins. Consequently, IDH mutations are associated with chromatin alterations including global alteration of histones and NDA methylation. This is the reason of the need to identify such mutations of genes (IDH1/IDH2) in patients with SMD and AML entering Hematology service of the Hospital General de Mexico from 2017 to 2019, and determine clinical impact in prognosis and monitoring the response to therapy, as well as prognosis and survival.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Acute Myeloid Leukemia (AML) | Acute Myeloid Leukemia | CURATED_BROADER | 0.80 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| IDH mutation test performed at diagnosis | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- AML patients
- description
- Adult AML patients with the IDH mutation test performed at diagnosis.
- interventionNames
- Genetic: IDH mutation test performed at diagnosis
Primary outcomes (1)
- measure
- Identify the mutation frequency of IDH1/IDH2 genes in patients with AML entering Hematology service of the HGM and clinical impact in treatment respons
- timeFrame
- At two years from study entry
- description
- Number of patients with the IDH mutation in AML at initial diagnosis
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 80 Years
Show eligibility criteria text
Inclusion Criteria: Signed written informed consent according to ICH/GCP and national local laws AML patients; \>18 years IDH mutation test perfomed at diagnosis Exclusion Criteria: Patients whom don't continue treatment. AML-M3 subtype according to the FAB \-
References
Publications (4)
- BACKGROUNDGutierrez-Malacatt H, Ayala-Sanchez M, Aquino-Ortega X, Dominguez-Rodriguez J, Martinez-Tovar A, Olarte-Carrillo I, Martinez-Hernandez A, C CC, Orozco L, Cordova EJ. The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk in Women. Asian Pac J Cancer Prev. 2016;17(4):2265-70. doi: 10.7314/apjcp.2016.17.4.2265. PMID 27221928
- RESULTAlonso-Rangel L, Benitez-Guerrero T, Martinez-Vieyra I, Cisneros B, Martinez-Tovar A, Winder SJ, Cerecedo D. A role for dystroglycan in the pathophysiology of acute leukemic cells. Life Sci. 2017 Aug 1;182:1-9. doi: 10.1016/j.lfs.2017.06.004. Epub 2017 Jun 4. PMID 28591567
- RESULTSantoyo-Sanchez A, Ramos-Penafiel CO, Saavedra-Gonzalez A, Gonzalez-Almanza L, Martinez-Tovar A, Olarte-Carrillo I, Collazo-Jaloma J. [The age and sex frequencies of patients with leukemia seen in two reference centers in the metropolitan area of Mexico City]. Gac Med Mex. 2017 Jan-Feb;153(1):44-48. Spanish. PMID 28128805
- RESULTOlarte Carrillo I, Ramos Penafiel C, Miranda Peralta E, Rozen Fuller E, Kassack Ipina JJ, Centeno Cruz F, Garrido Guerrero E, Collazo Jaloma J, Nacho Vargas K, Martinez Tovar A. Clinical significance of the ABCB1 and ABCG2 gene expression levels in acute lymphoblastic leukemia. Hematology. 2017 Jun;22(5):286-291. doi: 10.1080/10245332.2016.1265780. Epub 2016 Dec 14. PMID 27960630