Abstract Background Genomic profiling of metastatic breast cancer (MBC) using next-generation sequencing (NGS) has identified driver mutations however, the routine sequencing to guide treatment decisions in this setting is still unclear. Methods Retrospective study of patients with MBC presented to 4 cancer centers in Egypt, from January 1, 2013 to December 31, 2017. Patients were randomized into; group (A) patients who received chemotherapy based on genomic testing and group (B) as control group who have the same clinico-pathological features as group (A) but received non-genomic based treatment. Results 46 patients met our inclusion criteria. Of these, Invasive ductal carcinoma, grade II, luminal-A sub-type (ER, PR +ve, HER-2 -ve) were the most frequent histopathological findings in both groups. Triple negative sub-type was the second most frequent hormonal status in both groups. The most common mutation identified among patients with genotyping was PIK3CA (41.7%), while TP53 was the second most common mutation (25%). The 4 months ORR for the 2nd line was 66.7% ,33.3% in the control arm and genomic arm respectively with (P value= 0.124). For the 3rd line, the ORR was 42.3%, 16.7% in the control arm and genomic arm respectively with (P value=0.370). For the 4th line, the ORR was 23.1%, 50% in the control arm and genomic arm respectively with (P value=0.346) reflecting genomic profiling non-significance. Regarding the median PFS, it was 6, 4 and 4 months in the control group versus 2, 4 and 4 months in the genomic group for the 2nd, 3rd and 4th line respectively with (P values =0.010, 0.782 and 0.655) respectively reflecting genomic profiling non-significance. Regarding the median OS (calculated since date of diagnosis), it was about 50 months and 80 months for control and genomic group respectively with non-significant trend increase in survival in the genomic arm. (P value = 0.062). Conclusions Gene profiling did not improve the 4 months ORR, PFS and OS. Genomic profiling is not a routine practice in MBC settings and it is recommended only for cases that are resistant to the standard therapy or for which no standard therapy is available and for those enrolled in a clinical trial. Editorial acknowledgement Amr Abd-El Aziz El-Said, Ashraf Ahmed El Masry, Neamat Elsayed Elsayed Hegazy, Amr munir Amin. Legal entity responsible for the study Alexandria University. Funding Has not received any funding. Disclosure The author has declared no conflicts of interest.
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