Abstract 144P
Background
The introduction of next-generation sequencing (NGS) technologies and the rising number of large-scale tumor molecular profiling programs across institutions worldwide have revolutionized the field of precision oncology and have led to the development of various NGS platforms. This study evaluated the profile of somatic mutations by NGS in Mexican patients with diverse type of cancers.
Methods
We conducted a multicenter, retrospective and descriptive study based on comprehensive genomic profiling of tumors from 145 patients with diverse type of cancers using NGS in tumor tissue or trough analysis of cell-free circulating tumor DNA (ctDNA) in blood. Data were obtained of our electronic medical record and molecular database.
Results
Of the total study participants, 85 were women and 60 were men, whose average age was 53.7 years. A total of 155 NGS tests were performed for tumors from 25 different sites, of which 59.3% corresponded to the breast, colon, lung, soft tissue, head, neck or central nervous system (CNS). 922 alterations in 129 genes were identified, among which 12 concentrated 55% of the genomic alterations of all the tumors evaluated (Table). By contrast, 19 NGS tests reported no alteration in the tumors they evaluated. Table: 144P
| N=145 | % | |
| AGE (Mean ± SD) | 53.7 ± 14.4 | |
| GENDER | ||
| Female | 85 | 58.6 |
| Male | 60 | 41.4 |
| CANCER DISEASE | ||
| Breast | 30 | 20.7 |
| Colon | 17 | 11.7 |
| Lung | 14 | 9.7 |
| Soft Tissue Sarcoma | 9 | 6.2 |
| Carcinoma of Unknown Primary | 9 | 6.2 |
| Head & neck | 8 | 5.5 |
| SNC | 8 | 5.5 |
| Others | 50 | 34.5 |
| NGS TEST COMPANY | ||
| Foundation Medicine | 53 | 34.2 |
| Caris Life Sciences | 47 | 30.3 |
| Guardant 360 | 40 | 25.8 |
| Others | 15 | 9.7 |
| MAIN ALTERED GENE | ||
| BRAF | 55 | 37.9 |
| Her2/Neu (ERBB2) | 47 | 32.4 |
| TS | 47 | 32.4 |
| TP53 | 45 | 31.0 |
| ERCC1 | 44 | 30.3 |
| TOPO1 | 44 | 30.3 |
| RRM1 | 41 | 28.3 |
| ER | 38 | 26.2 |
| MGMT | 37 | 25.5 |
| PR | 37 | 25.5 |
| AR | 36 | 24.8 |
| TUBB3 | 36 | 24.8 |
Conclusions
Our work corroborates what has been described by other studies in which it has been concluded that the Mexican population presents a particular mutational profile of malignant tumors. Larger and more specific studies of mutation profiles will allow the development of precision oncology in populations that have been poorly investigated.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.