Commentary - Journal of Clinical Pathology and Laboratory Medicine (2025) Volume 7, Issue 2

Emerging biomarkers in anatomical pathology: Diagnostic and prognostic implications.

Department of Hematopathology Erasmus MC-University Medical Center Rotterdam, Netherlands.

*Corresponding Author:

Ron Williams
Department of Hematopathology Erasmus MC-University Medical Center Rotterdam
Netherlands.
E-mail: william@hotmail.com.au

Received: 10-Jun-2025, Manuscript No. AACPLM- 25-166888; Editor assigned: 11-Jun-2025, Pre QC No. AACPLM- 25-166888 (PQ); Reviewed: 20-Jun-2025, QC No. AACPLM- 25-166888; Revised: 21-Jun-2025, Manuscript No. AACPLM- 25-166888 (R); Published: 28-Jun-2025, DOI: 10.35841/aacplm-7.2.256

Citation: Williams R. Emerging biomarkers in anatomical pathology: Diagnostic and prognostic implications. J Clin Path Lab Med.2025;(7)2:256

Introduction

Anatomical pathology has undergone significant advancements with the identification of emerging biomarkers, which enhance diagnostic accuracy and provide prognostic insights for various diseases, particularly cancers. Biomarkers are measurable biological indicators that reflect disease presence, progression, or response to therapy. Their integration into clinical practice has revolutionized personalized medicine, enabling tailored therapeutic strategies. Emerging biomarkers have improved diagnostic precision in anatomical pathology. For instance, liquid biopsies detecting circulating tumor DNA (ctDNA) allow non-invasive identification of genetic mutations in cancers like lung and colorectal carcinoma. These assays identify actionable mutations, such as EGFR in non-small cell lung cancer, guiding targeted therapies. Similarly, programmed death-ligand (PD-L1) expression, assessed via immunohistochemistry, predicts response to immune checkpoint inhibitors in cancers like melanoma and lung cancer. The advent of next-generation sequencing (NGS) has further expanded diagnostic capabilities by enabling comprehensive genomic profiling, identifying rare mutations, and uncovering novel therapeutic targets. [1].

In breast cancer, biomarkers like HER2 amplification and Estrogen Receptor (ER) status remain critical for diagnosis and treatment planning. Emerging markers, such as PIK3CA mutations, detected through NGS, offer additional diagnostic clarity, particularly in hormone receptor-positive cases. These advancements reduce diagnostic ambiguity, especially in challenging cases like metastatic tumors of unknown primary origin. Biomarkers also provide critical prognostic information. In prostate cancer, the expression of PTEN loss, assessed via immunohistochemistry, correlates with aggressive disease and poorer outcomes, aiding risk stratification. Similarly, the Ki-67 proliferation index, widely used in breast and neuroendocrine tumors, offers insights into tumor aggressiveness and recurrence risk. Emerging prognostic biomarkers, such as Tumor Mutational Burden (TMB), quantify the number of mutations within a tumor, correlating with immunotherapy response and survival outcomes in cancers like melanoma. [2].

In gastrointestinal cancers, Microsatellite Instability (MSI) status is a key prognostic marker. MSI-high tumors, often detected via polymerase chain reaction or immunohistochemistry, indicate better prognosis and responsiveness to immunotherapy. Additionally, the identification of Homologous Recombination Deficiency (HRD) in ovarian and breast cancers predicts response to PARP inhibitors, offering both prognostic and therapeutic insights [3]

Despite their promise, challenges remain in biomarker implementation. Standardization of assays, cost, and accessibility limit widespread adoption, particularly in resource-constrained settings. Additionally, tumor heterogeneity and dynamic biomarker expression necessitate repeated testing, complicating clinical workflows. Future directions include the integration of artificial intelligence to interpret complex biomarker data and the development of multi-omics approaches combining genomics, proteomics, and metabolomics for holistic disease profiling [4].

Emerging biomarkers are transforming anatomical pathology by enhancing diagnostic precision and prognostic accuracy. Continued research and technological advancements will further refine their clinical utility, paving the way for personalized medicine [5].

Conclusion

Emerging biomarkers in anatomical pathology are transforming diagnostic accuracy and enabling earlier disease detection. Their prognostic value offers deeper insights into disease progression and patient outcomes. Continued research and integration into clinical practice will significantly advance personalized medicine and targeted therapies.

References

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