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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Molecular characterization of gallbladder cancer using somatic mutation profiling.

Milind Javle¹, Asif Rashid¹, Chaitanya Churi¹

¹The University of Texas M.D. Anderson Cancer Center, Houston, TX,77054, USA.

Human Pathology

|February 11, 2014

Summary

This summary is machine-generated.

Molecular profiling of gallbladder cancer (GBC) identified targetable mutations, including KRAS, which correlated with poor survival. Next-generation sequencing (NGS) is a feasible approach for discovering novel mutations for advanced GBC targeted therapies.

Keywords:

DNA sequencing Gallbladder neoplasms Mutational analysis

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Comparative Lesions Analysis Through a Targeted Sequencing Approach

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Published on: November 5, 2019

Area of Science:

Oncology
Molecular Biology
Genetics

Background:

Gallbladder cancer (GBC) is uncommon globally but has high incidence in specific regions.
Limited molecular characterization hinders targeted therapy development for advanced GBC.

Purpose of the Study:

To investigate targetable somatic mutations in gallbladder cancer using archival samples.
To assess the feasibility of molecular profiling for identifying therapeutic targets.

Main Methods:

Surgical pathology from 72 GBC cases (formalin-fixed, paraffin-embedded) were analyzed.
Two methods were employed: mass spectroscopy for 159 hotspot mutations in 33 genes, and next-generation sequencing (NGS) for 182 cancer-related genes.
Fifty-seven cases underwent hotspot mutation analysis, and 15 underwent NGS.

Main Results:

Fourteen hotspot mutations were found in 9 cases; KRAS mutations were linked to poorer survival.
NGS identified 26 mutations in 15 cases, with common TP53 and PI3 kinase pathway alterations.
Novel findings included FGF10 amplification and an FGF3-TACC gene fusion in GBC.

Conclusions:

Somatic mutation profiling of GBC using archival FFPE samples is achievable.
NGS is a valuable tool for identifying novel mutations and potential targeted therapies in GBC.
Further research into these mutations may lead to improved GBC treatment strategies.