Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer.
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Nogueira Rodrigues Angelica, Souto Andreza Karine de Barros Almeida, de Andrade Diocésio Alves Pinto, Gomes Larissa Müller, Koide Sandra Satie, E Silva Renata de Godoy, de Souza Bruno Batista, Massaro Juliana Doblas, de Melo Andréia Cristina, Borges Andrea Morais, Giro Camila, de Andrade Carlos Augusto Vasconcelos, da Costa Cesar Martins, Gimenes Daniel Luiz, de Mello Eduardo Caminha Bandeira, de Oliveira Fernanda Cesar, Lima Frederico Müller de Toledo, Lopes Gabriel Lima, Bretas Gustavo de Oliveira, Jacob Gustavo Guerra, Silva Herika Lucia da Costa, Notaro Juliana Ferrari, Alves Lara Ladislau, Moitinho Marcos Veloso, da Silva Mirian Cristina, Abramoff Roberto, Rauber Thais Amaral da Cunha, Dienstmann Rodrigo, Koyama Fernanda Christtanini
Аннотация
OBJECTIVE: To technically validate an in-house next-generation sequencing (NGS)-based HRD test, QIAseq Custom Panel (QIAGEN), by comparing it with the reference assay, MyChoice CDx® Plus HRD (Myriad Genetics), which is used in routine care.
METHODS: This is a prospective cohort study conducted at the Oncoclínicas Precision Medicine (OCPM) laboratory using samples from patients with advanced or relapsed platinum-sensitive ovarian cancer eligible for HRD testing in a diagnostic clinical setting at Oncoclínicas and Co. We assessed the performance of the in-house test (GS Focus HRD) using Cohen's kappa statistic to measure agreement with the gold standard assay (MyChoice® HRD Plus CDx) in HRD status classification, along with other accuracy metrics.
RESULTS: In total, 41 samples were analyzed (20 HRD-positive, 19 HRD-negative, and 2 inconclusive results with the MyChoice® HRD Plus CDx assay). The GS Focus HRD test demonstrated high concordance for HRD status with the reference test (kappa: 0.8 and 95% CI: 0.60-0.98). Overall accuracy, sensitivity, and specificity were 90%. Six samples had BRCA1/2 mutations identified by the MyChoice® HRD Plus CDx, all of which were detected by the GS Focus HRD test.
CONCLUSION: In summary, the results demonstrate substantial agreement and high accuracy of the NGS-based GS Focus HRD test compared to MyChoice® HRD Plus CDx. Our in-house assay is eligible for diagnostic test approval and market access as per Brazilian regulations.