Molecular Pathology

Molecular Pathology:-

Introduction:-

A developing field of pathology called molecular pathology is concerned with studying and diagnosing disease by looking at molecules in organs, tissues, or physiological fluids. It is multidisciplinary in character and mostly concentrates on the microscopic features of illness.

Molecular and genetic approaches to the diagnosis and classification of human diseases, the design and validation of predictive biomarkers for treatment response and disease progression, and the propensity of people with different genetic make-ups to develop disorders are all included in this scientific field.

Quantitative polymerase chain reaction (qPCR), multiplex PCR, DNA microarray, in situ hybridization, in situ RNA sequencing, DNA sequencing, antibody-based immunofluorescence tissue assays, molecular profiling of pathogens, and analysis of bacterial genes for antimicrobial resistance are just a few of the many techniques available.

Molecular pathological epidemiology (MPE):-

Which stands for integrative molecular biologic and population health research, is an interdisciplinary field that resulted from the fusion of "molecular pathology" and "epidemiology."

Molecular pathological epidemiology (MPE, sometimes known as molecular pathologic epidemiology) is a field that combines pathology and epidemiology. Epidemiology of molecular pathology and disease heterogeneity is how it is described. MPE seeks to accomplish this goal at the molecular, individual, and population levels. Pathology and epidemiology have the same goal of investigating the genesis of disease. Typically, tissue pathology resources and data from ongoing epidemiology investigations are used in MPE. MPE and conventional-type molecular epidemiology that makes use of standard disease nomenclature systems are both commonly referred to as molecular epidemiology.

A disease's course:-

The evolution of diseases is an intrinsically heterogeneous process, according to data from The Cancer Genome Atlas studies. The uniqueness of the exposome and its influence on the molecular pathologic process result in a unique disease process for each patient (the "unique illness principle"). Clinical medicine has embraced this idea, along with precision medicine and individualised treatment.

Methodology:-

In MPE, researchers analyse the connections between exposures (such as environmental, nutritional, lifestyle, and genetic factors), changes to cellular or extracellular molecules (disease molecular signatures), and the evolution and progression of disease.

The genome, methylome, epigenome, metabolome, transcriptome, proteome, microbiome, immunity, and interactome can all be examined by researchers. Certain molecular signatures can be used to associate a suspected risk factor.

Using extensive population-based data and MPE research, a novel biomarker with potential clinical relevance can be identified (e.g., PIK3CA mutation in colorectal cancer to select patients for aspirin therapy).

The MPE approach, also known as the "GWAS-MPE strategy," can be applied after a genome-wide association study (GWAS).

Through the use of molecular pathology, surrogate histopathology, or immunohistochemistry examination of sick tissues and cells within GWAS, detailed disease endpoint phenotyping can be carried out.

Potential risk alleles discovered by GWAS can also be investigated using molecular pathology studies on sick tissues as an alternate strategy.

This GWAS-MPE technique can provide more accurate impact estimates, even greater effects, for particular molecular subtypes of the disease, as well as pathogenesis-related insights by connecting genetic variants to molecular pathologic markers of the disease.

History:-

Analysis of risk variables (such as smoking) and molecular pathology findings was how MPE first got started (e.g., KRAS G12C oncogene mutations in lung carcinoma).

Throughout the 1990s and the beginning of the 2000s, studies to look at the connection between an exposure and molecular pathological markers of disease (especially cancer) proliferated.

There aren't enough interdisciplinary experts, standardised procedures, or training programmes for using molecular pathology in epidemiology. Because MPE studies variability in an outcome variable, new conceptual frameworks and procedures (epidemiological approach) were necessary for MPE research.

2010 saw the introduction of the phrase "molecular pathological epidemiology" by Shuji Ogino and Meir Stampfer. Following 2010, certain MPE concepts were developed. The MPE paradigm has been discussed at international conferences and is used widely throughout the world.

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