Study Highlights The Need for Risk Models in AML for Black Patients

A recent study highlights the importance of including diverse genetic backgrounds in acute myeloid leukemia (AML) research. The analysis concluded that the 2022 European LeukemiaNet (ELN) risk model may not fully address the needs of Black patients due to underrepresentation in the original studies that shaped the model. This new analysis emphasizes that Black patients often have high-risk genetic mutations that the current classification does not account for, potentially impacting treatment decisions and outcomes. In this article, we break down what this study found and why it’s important for Black patients with AML.

The Unique Risk Patterns in Black Patients with AML

The 2022 ELN risk model helps guide treatment decisions and is based on genetic mutations often seen in AML patients. However, it may not include or correctly consider certain mutations more frequently found in Black patients. 

The study took a close look at the genetic profiles of Black patients with AML and found significant differences compared to White patients. These differences are crucial because they could change how doctors assess risk and recommend treatments for Black people.

• Common mutations in NPM1 and NRAS genes may carry different risks for Black patients than they do for White patients. 
• Mutations like IDH1 and IDH2 were linked with a worse survival rate in Black patients, suggesting that these patients may benefit from earlier treatment plans.
• Genetic profiles in Black patients whose AML returns (relapsed) or doesn’t respond to standard treatments (refractory) align with known high-risk markers.

NPM1 Mutations in Black AML Patients

One of the most important parts of this study focused on patients with NPM1 mutations. For White patients, an NPM1 mutation without the FLT3-ITD mutation is often a good sign and is associated with better outcomes. However, for Black patients, the mutation was linked to worse survival outcomes.

Further analysis revealed that many Black patients with NPM1 mutations also had additional mutations not usually associated with AML. This finding suggests that unique genetic features related to ancestry might influence how AML develops and responds to treatment in Black patients, particularly for those with an NPM1 mutation.

Urgent Need for Guidelines Revision and Update

Due to these groundbreaking findings, researchers recommend revising the 2022 ELN risk model to include the genetic variations affecting Black patients. Adjusting based on these findings could reclassify Black patients into accurate AML risk categories, which could impact treatment decisions and ultimately improve outcomes.

This proposed improvement would include:

• Specific genetic markers like NRAS, IDH1, and IDH2 mutations linked to poorer outcomes in Black patients
• Recognizing that the NPM1 mutation behaves differently in Black patients

By refining the ELN model to consider these variations, doctors would be better equipped to recommend more intensive treatments for patients who need them.

Why Inclusive Risk Models Matter

The study’s findings emphasize the need for AML research and treatment models that include genetic information. This is critical for the Black community, as underrepresentation leads to an incomplete understanding of their genetic risks. Recognizing ancestry-specific genetic differences could significantly improve outcomes with treatment choices based on a more accurate risk assessment.

Final Thoughts

This study is an important reminder that precision medicine—treating each patient based on their unique genetic and environmental factors—relies on diverse data. As this research advances, it has the potential to set a new standard for risk assessment and personalized care in AML, ensuring that all patients receive the best treatment for their specific needs.

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Source: 

• Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia