Results

Among 93 patients with advanced metastatic solid tumours who were included in the study, their baseline characteristics are summarised in Table 1. Out of enrolled patients, 60% (n=56) were male, and 40% (n=37) were female. Lung cancer was the most common malignancy, observed in 23% (n=21) of patients, followed by gallbladder cancer in 12% (n=11), and both breast and head and neck cancers, each accounting for 11% (n=10).

NGS testing was performed at various stages of treatment: before first-line therapy in 32% (n=30), second-line in 46% (n=43), and third-line or later in 22% (n=20) of patients (Table 1).

Baseline characteristics | Percentage (number of patients)
Gender | Male | 60% (n=56)
Female | 40% (n=37)
Type of Biopsy | Tissue | 71% (n=66)
Liquid | 29% (n=27)
Genetic alteration present | 45% (n=42)
Timing of NGS testing | 1st line | 32% (n=30)
2nd line | 46% (n=43)
3rd line or beyond | 22% (n=20)
Targetable approved treatment or clinical trial available | 33% (n=31)
Patient received treatment as per molecular alteration | 19% (n=18)
PFS >6 months in molecular alteration-guided treatment | 9% (n=8)

Genomic alterations were identified in 45% (n=42) of patients. Among these, single-nucleotide variants (SNVs) were the most common, detected in 65% of cases. Gene amplification and deletion were observed in 13% and 12% of patients, respectively, while 10% had frameshift mutations.

Of the 42 patients with detectable genomic alterations, 33% (n=31) had potentially actionable mutations with a corresponding targeted therapy available, either as an approved treatment or through a clinical trial. Despite this, only 19% (n=18) of patients ultimately received NGS-directed therapy, as detailed in Table 2.

S.N. | Cancer Type | Lines of systemic therapy before NGS testing | Genetic alteration detected | NGS-directed treatment | PFS
1 | Ca Lung | 2 | TMB-H | Keytruda | <6 months
2 | Ca Lung | 2 | EGFR amplification | Everolimus | <6 months
3 | Ca Lung | 2 | TMB-H | Keytruda | >6 months
4 | Ca Lung | 2 | PIK3R1 | Everolimus | <6 months
5 | Ca Gallbladder | 1 | TMB-H | Keytruda | >6 months
6 | Ca Gallbladder | 2 | Her2Neu amplification | Trastuzumab | >6 months
7 | Ca Gallbladder | 0 | TMB-H | Keytruda | >6 months
8 | Ca Gallbladder | 1 | TMB-H | Keytruda | <6 months
9 | Ca Gallbladder | 1 | Microsatellite unstable | Keytruda | >6 months
10 | Ca Colon | 2 | Her2Neu amplification | Trastuzumab and lapatinib | <6 months
11 | Ca Endometrium | 2 | Her2Neu amplification | Trastuzumab | <6 months
12 | Ca Endometrium | 1 | Microsatellite unstable | Keytruda | >6 months
13 | Ca Esophagus | 2 | EGFR amplification | Gefitinib | <6 months
14 | Ca Esophagus | 2 | SDHA mutation | Temozolomide | <6 months
15 | Ca Pancreas | 1 | Microsatellite unstable | Keytruda | <6 months
16 | Glioma | 1 | TMB-H | Keytruda | >6 months
17 | Ca stomach | 2 | TMB-H | Keytruda | >6 months
18 | Synovial Sarcoma | 2 | NF-1 | Trametinib | <6 months

Among those who received targeted treatment, 44% (n=8) experienced a progression-free survival (PFS) of six months or more, while the remaining 56% (n=10) progressed within six months. Thirteen patients with actionable mutations could not be treated with genome-matched therapy - nine due to the unavailability of relevant clinical trials in India, and four because of financial constraints.