UC Irvine Researchers identify key enzyme contributing to cancer health disparities in Latin American population

Irvine, Calif. July 29, 2024 – Researchers from the UC Irvine School of Medicine’s Pannunzio Lab have discovered that an enzyme expressed in B cells is a significant factor driving cancer health disparities within the Latin American population. The study, “Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities,” recently published in the journal Nature Communications specifically focuses on acute lymphoblastic leukemia (ALL) and aims to address the growing medical need for rapid and affordable genetic testing with a molecular-based digital PCR assay that the lab developed to test if the genomes of patients with leukemia show instability due to this enzyme.

ALL, particularly the Philadelphia-like (Ph-like) subtype, shows a higher incidence rate and poorer treatment outcomes in the Latin American community. The study, led by Nick Pannunzio, PhD, assistant professor of medicine in the Division of Hematology/Oncology, along with first author Valeria Rangel, a rising fifth-year biological chemistry graduate student in the lab, emphasizes how the enzyme activation-induced cytidine deaminase (AID) contributes to genomic instability at the CRLF2 locus, resulting in Ph-like ALL pathology. Notably, Latin Americans with Ph-like ALL are more likely to present with instability at CRLF2, linking AID-induced mutations with this health disparity.

This research exemplifies translational science and precision health as “the molecular tools developed in the lab can be directly applied to disease prediction and diagnosis,” says Pannunzio. “The genomic data collected not only advances scientific knowledge but also aims to bridge the representation gap in Latin American genomic studies.”

The research was a collaborative effort involving the expertise of various departments and programs across UCI School of Medicine and the Chao Family Comprehensive Cancer Center. Notable contributions came from basic science researchers Selma Masri, PhD, and Marcus Seldin, PhD, as well as clinical researchers Angela Fleischman, MD, PhD, and Fabiola Quintero-Rivera, MD. The Office of Community Outreach and Engagement led by Sora Park Tanjasiri, DrPH, also played a significant role in the success of this project, underscoring UC Irvine’s dedication to addressing health disparities within the local community. See the study for the full list of authors that contributed to this important work.

As part of their ongoing efforts, the team plans to expand their biorepository of ALL samples and employ genetic admixture analysis to gain deeper insights into the heightened cancer risks within the genetically heterogeneous Latin American population.

The study was supported by grants from the National Cancer Institute, UCI Anti-Cancer Challenge funds, and others noted in the publication. Rangel, a first-generation Latina student, is also fully supported by a National Cancer Institute Research Supplement to Promote Diversity in Health-Related Research.

About the UCI School of Medicine

Each year, the UCI School of Medicine educates more than 400 medical students and nearly 150 PhD and MS students. More than 700 residents and fellows are trained at the UCI Medical Center and affiliated institutions. Multiple MD, PhD and MS degrees are offered. Students are encouraged to pursue an expansive range of interests and options. For medical students, there are numerous concurrent dual degree programs, including an MD/MBA, MD/MPH, or an MD/MS degree through one of three mission-based programs: the Health Education to Advance Leaders in Integrative Medicine (HEAL-IM), the Program in Medical Education for Leadership Education to Advance Diversity-African, Black and Caribbean (PRIME LEAD-ABC), and the Program in Medical Education for the Latino Community (PRIME-LC). The UCI School of Medicine is accredited by the Liaison Committee on Medical Accreditation and ranks among the top 50 nationwide for research. For more information, visit medschool.uci.edu.