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. 2023 Jun;10(3):1423-1431.
doi: 10.1007/s40615-022-01328-0. Epub 2022 Jun 1.

Tumor Molecular Profiling in Hispanics: Moving Towards Precision Oncology and Health Equity

Sariemma Mendez Rodríguez #  1 , Aida M Rodríguez-Hernández #  2 , Gabriela Torres-Torres  3 , Hilmaris Centeno-Girona  1 , Marcia Cruz-Correa  4   5   6
Affiliations

Tumor Molecular Profiling in Hispanics: Moving Towards Precision Oncology and Health Equity

Sariemma Mendez Rodríguez et al. J Racial Ethn Health Disparities. 2023 Jun.

Abstract

Background: Tumor molecular profiling techniques, such as next-generation sequencing (NGS) to identify somatic genetic alterations, allow physicians to have a better understanding of the affected carcinogenic pathways and guide targeted therapy. The objective of our study was to characterize common somatic alterations and carcinogenic pathways among Puerto Rican Hispanics with solid tumors.

Methods: We conducted a single-institution, retrospective study to characterize molecular tumor profiles using a 592-gene NGS platform. Actionable mutations with current or developing therapies targeting affected genes/pathways were highlighted.

Results: Tumors from 50 Hispanic patients were evaluated using CARIS Life Science© NGS testing. The median age of our study population was 55 (range 21-84); 54% (n = 27) were males. The primary tumor sites were colorectal (n = 24), gastric (n = 5), breast (n = 4), and lung (n = 3). The most common genetic mutations identified were in TP53 (44%), APC (38%), and KRAS (32%); followed by alterations in EGFR (4%), HER2 (6%), and homologous recombinant deficiency genes (BRCA2, 6%). Genetic alterations were found in multiple signaling pathways particularly in the cell cycle control pathway, MAPK and Wnt/β-Catenin signaling pathways. Targetable biomarkers were identified in 27/50 (54.0%) of tumors.

Discussion: Molecular profiling techniques, such as next-generation sequencing, have substantially expanded access to alterations in the cancer genome. Our findings demonstrated important actionable mutations in most of the tumors evaluated and support the integration of somatic mutation profiling in the evaluation of Hispanic cancer patients with advanced cancer to help guide therapeutic options.

Keywords: Cancer; Carcinogenic pathways; Precision oncology; Somatic tumor profile.

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Conflict of interest statement

The authors declare that no funds were received during the preparation of this manuscript and have no relevant or non-financial interests to disclose. Dr. Cruz-Correa currently serves as the CMO PanOncology Trials and is an Executive Board Member of Precision Oncology Alliance.

Figures

Fig. 1
Fig. 1
Frequencies of molecular alterations and targetable genes with available therapies among colorectal tumors (n = 24)
Fig. 2
Fig. 2
Frequencies of molecular alterations and targetable genes with available therapies among breast tumors (n = 4)
Fig. 3
Fig. 3
Frequencies of molecular alterations and targetable genes with available therapies among gastric tumors (n = 5)
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