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IDH1/IDH2 Mutation Frequency in Acute Myeloblastic Patients

NCT03204838 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2017-07-02

No results posted yet for this study

Summary

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

  • Acute Myeloid Leukemia (AML)

Interventions

GENETIC

IDH mutation test performed at diagnosis

Observation of the test result

Sponsors & Collaborators

  • Hospital General de Mexico

    lead OTHER_GOV

Principal Investigators

  • ADOLFO A Martinez Tovar, phD · Hospital General de Mexico

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-07-10
Primary Completion
2019-12-31
Completion
2020-05-05

Countries

  • Mexico

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03204838 on ClinicalTrials.gov