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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysis
Chiara Romano1,2, Sandra Di Gregorio3,4, Maria Stella Pennisi3,4
1Department of Clinical and Experimental Medicine, University of Catania, 95123, Catania, Italy. chiararomano83@gmail.com.
Molecular Biology Reports
|June 17, 2022
Summary
Next-generation sequencing (NGS) helped diagnose metachronous multiple primary malignancies (MPM) by revealing distinct molecular profiles in two distinct cancers. Despite identifying genetic variants, NGS could not correlate them with the patients favorable prognosis.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Multiple primary malignancies (MPM) involve distinct tumors in one individual.
- Distinguishing MPM from metastatic disease requires advanced diagnostic tools.
- Next-generation sequencing (NGS) offers sensitive DNA analysis for genetic discrimination.
Observation:
- A patient presented with gastric adenocarcinoma and later developed colorectal cancer.
- The second cancer involved multiple organs, initially suggesting metastasis.
- Adjuvant chemotherapy proved effective for both advanced-stage diseases.
Findings:
- NGS mutation profiling identified two distinct malignancies, confirming metachronous MPM.
- Somatic mutations were found only in the gastric cancer.
- Germline variants in PDGFRA, APC, and TP53 were identified but not correlated with prognosis.
Implications:
- NGS is crucial for accurate diagnosis of complex MPM cases.
- Molecular profiling aids in differentiating independent primary tumors.
- Further research is needed to understand genetic drivers of unexpected treatment responses in MPM.
