Targeted Next Generation Sequencing molecular profiling and its clinical application in adrenocortical cancer
Authors' conclusion
A simplified targeted-NGS approach seems the best routinely applicable first step towards somatic genetic characterisation of ACC for prognostic assessment. This approach proved to be particularly promising in low-stage cases, suggesting the need for more stringent surveillance and personalised treatment.
Study context
- Population
- Patients with adrenal cortical carcinoma (ACC): 30 frozen tumour specimens from a local series plus 86 patients from the ACC-TCGA seriestotal cohort
- Participants
- 113 patients
- Exposure
- Somatic alterations grouped by signalling pathways/combinations
- Outcome
- Overall survival (OS), progression-free survival (PFS) and HR for alterations grouped by signalling pathways/combinations affected
Methodological detailstargeted NGS panel, integrated with ACC-TCGA series
- Targeted NGS panel
- Integrated with ACC-TCGA series
Main finding
As reported in the abstract
NF1 + TP53 combination, progression HR, all stages
HR = 2.96
1.01–8.69
NF1 + TP53 combination, progression HR, low (I/II) stages
HR = 13.23
3.15–55.61
Wnt/β-catenin + Rb/p53 combined pathways, progression HR, all stages
HR = 6.47
2.54–16.49
Wnt/β-catenin + Rb/p53 combined pathways, progression HR, low (I/II) stages
HR = 16.24
3.87–68.00
Observational data: associations, not effects.
Original publication
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