New Genetic Technologies in Diagnosis and Treatment of Cancer of Unknown Primary
Abstract
:Simple Summary
Abstract
1. Introduction
2. Molecular Tests Used for Establishing the ToO
3. Molecular Testing for Treatment Selection in Patients with CUP
3.1. Selection of Chemotherapy Regimen
3.2. Selection for Targeted Therapies and Immunotherapies
3.3. Limitations of Molecular Testing in the Diagnosis of CUP
4. Conclusions
Funding
Conflicts of Interest
References
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Molecular/Immunohistochemical Tests | Reported Concordance with a Clinical and (Immuno)histological Diagnosis |
---|---|
Immunohistochemical testing | 84% with a clinicopathological diagnosis |
DNA methylation (epigenetic profiling, EPICUP DNA, mSEPT9) | 69–87% for primary tissue detection |
microRNA profiling with: | |
|
|
Microarray technology (whole genes expression) | 94% for adenocarcinoma diagnosis 81% for ToO of metastatic tumours |
MI GPSai (next-generation sequencing DNA- and RNA-based tests) | 95% of ToO detection |
Genetic Abnormality | Malignancy with Common Abnormality Occurrence | Molecularly Targeted Therapy |
---|---|---|
NTRK 1–3 gene rearrangements |
| NTRK inhibitors:
|
RET gene rearrangement |
| RET inhibitors:
|
BRAF gene mutations |
| BRAF inhibitors:
|
EGFR gene mutations |
| EGFR inhibitors:
|
ALK gene rearrangements |
| ALK inhibitors:
|
ROS1 gene rearrangements |
| ROS1 inhibitors:
|
KRAS gene mutations |
| KRAS inhibitors:
|
NRAS gene mutations |
| MEK inhibitors:
|
Microsatellite instability (loss of DNA repair gene expression: MSH2, MSH6, MLH1, PMS2) |
| Immunotherapy:
|
BRCA1 or BRCA2 genes mutations |
| PARP inhibitors:
|
PIK3CA gene mutations |
| PIK3 inhibitors:
|
CDKN2A gene mutations |
| CDK4/6 cyclins inhibitors:
|
KIT or PDGFRA genes mutations |
| KIT and PDGFR multikinase inhibitors:
|
HER2 gene amplification (increasing of HER2 gene copy number), HER2 gene mutations |
| HER2 inhibitors:
|
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Krawczyk, P.; Jassem, J.; Wojas-Krawczyk, K.; Krzakowski, M.; Dziadziuszko, R.; Olszewski, W. New Genetic Technologies in Diagnosis and Treatment of Cancer of Unknown Primary. Cancers 2022, 14, 3429. https://0-doi-org.brum.beds.ac.uk/10.3390/cancers14143429
Krawczyk P, Jassem J, Wojas-Krawczyk K, Krzakowski M, Dziadziuszko R, Olszewski W. New Genetic Technologies in Diagnosis and Treatment of Cancer of Unknown Primary. Cancers. 2022; 14(14):3429. https://0-doi-org.brum.beds.ac.uk/10.3390/cancers14143429
Chicago/Turabian StyleKrawczyk, Paweł, Jacek Jassem, Kamila Wojas-Krawczyk, Maciej Krzakowski, Rafał Dziadziuszko, and Włodzimierz Olszewski. 2022. "New Genetic Technologies in Diagnosis and Treatment of Cancer of Unknown Primary" Cancers 14, no. 14: 3429. https://0-doi-org.brum.beds.ac.uk/10.3390/cancers14143429