Tumor Molecular Profiling in Underrepresented Populations: Pathological Insights and Clinical Outcomes

The molecular characterization of solid tumors has transformed oncology over the past decade, enabling more precise diagnosis, risk stratification, and selection of targeted therapies. Next-generation sequencing (NGS), comprehensive mutation profiling, and tumor suppressor gene analysis have become indispensable tools in modern surgical pathology. Yet the genomic landscape of cancer has been predominantly mapped in patient populations of European ancestry, leaving critical gaps in our understanding of how mutational spectra, co-mutation profiles, tumor biology, and clinical outcomes differ across racial and ethnic groups.Populations with high proportions of Hispanic/Latino and Black individuals — such as those served by large safety-net hospital systems in the United States — present a distinct opportunity to characterize tumor genomics in understudied groups. Evidence suggests that racial and ethnic background may influence not only tumor subtype distribution and prevalence, but also mutation co-profiles, phenotypic manifestations, and response to standard treatments. However, large-scale NGS-based studies conducted in these populations remain scarce, and the pathological correlates of genomic diversity have received little systematic attention. This gap limits the generalizability of existing molecular frameworks and may contribute to disparities in risk stratification and treatment outcomes.This Research Topic aims to consolidate and advance knowledge on the molecular and histopathological characterization of solid tumors in racially and ethnically diverse patient cohorts, with a particular focus on underrepresented populations. We seek to bring together institutional experiences, retrospective cohort analyses, and translational studies that integrate tissue-based genomic profiling with clinical and pathological findings. By doing so, this collection aims to clarify how genomic alterations manifest across population groups, identify biomarkers with population-specific prognostic or predictive value, and build an evidence base to inform more inclusive frameworks for tumor classification, risk stratification, and treatment selection.We welcome only Original Research, Review, Mini Review, and Perspective articles on themes including, but not limited to:- NGS-based molecular profiling of solid tumors in Hispanic/Latino, Black, and other underrepresented patient populations- Tumor suppressor gene alterations (including BAP1, VHL, BRCA1/2, TP53) and their clinicopathological correlates across diverse cohorts- Racial and ethnic variation in tumor subtype distribution, morphological phenotype, and disease aggressiveness- Immunohistochemical and genomic biomarkers for diagnosis, prognosis, and therapeutic stratification in non-European patient populations- Copy number variations, chromatin remodeling alterations, and their immunological and clinical implications in diverse cohorts- Comparative clinicopathological studies examining outcomes across racial/ethnic groups, underpinned by molecular data- Single-center or multi-institutional retrospective studies leveraging diverse pathology databases for genomic characterization- Emerging therapeutic targets identified through population-inclusive genomic profilingPlease note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases, which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo), are out of scope for this section and will not be accepted as part of this Research Topic. Topic editors: Ying Pei, Teresa de Souza Fernandez, JING WANG, Matthew J. Marton Source: https://www.frontiersin.org/research-topics/82893/tumor-molecular-profiling-in-underrepresented-populations-pathological-insights-and-clinical-outcomes