166P - Targeted next-generation sequencing as reliable detection of genetic profile for cancer treatment to guide oncologists in Pakistan

Background

Genomic tests designed to facilitate decisions about treatment management include those that identify alterations in single genes and multimarker tumor panels. Multimarker panels include targeted gene-expression profiling tests that are used to estimate prognosis and/or the likelihood of recurrence. Currently, there are no nationally representative data describing oncologists’ awareness, knowledge, and use of NGS testing to inform patient care, especially in community practice settings. The purpose of this study was to investigate how oncologists in the Pakistan use NGS tests to evaluate patients with cancer and inform treatment recommendations.

Methods

This study was performed retrospectively on 73 biopsy specimens received for histopathological workup at the Aga Khan University Hospital. The specimens were obtained between January 2021 and December 2022. The diagnosis of malignancy was confirmed based on histpathochemical features. Briefly, DNA from FFPE tissues were extracted and tested through TruSight Tumor 15 (TST15) targeted cancer gene panel to detect variants in 15 genes associated with solid tumors using High throughput DNA sequencing; next-generation sequencing (NGS) technology to sequence DNA on Illumina, Miseq Insturment.

Results

Out of 73 patients tested, 28 (38.3%) were females and 45 (61.6%) were males with a median age of 52 years and patients’ ages ranged from 20 years to 84 years. The histopathological diagnosis were inclusive of 7 cancer types (Lung, Melanoma, Breast, Colon, Ovarian, Gastric, and Prostate. All samples underwent targeted analysis of tumor mutations to check for the presence of somatic gene variants. The outcome demonstrated no mutation in 14 (19.17%) patients, whereas, 59 (80.8%) tested positive with mutations in 7 of the 15 targeted genes such as TP53 (54.7%), KRAS (27%), EGFR (12%), PIK3CA (10.9%), ERBB2 OR HER2 (5.5%), NRAS (4%), MET (1%) and BRAF (1%).

Conclusions

NGS testing is changing the paradigm for molecular testing in these patients, with time, it should be possible to apply NGS to routine diagnostics. More research is needed to establish the clinical usefulness of these tests, to develop evidence-based clinical guidelines for their use in practice.

Editorial acknowledgement

Clinical trial identification

Legal entity responsible for the study

The authors.

Funding

Has not received any funding.

Disclosure

All authors have declared no conflicts of interest.