Comparison of comprehensive genomic profiling (CGP) and hotspot next generation sequencing (NGS) assays in identifying treatment options for care of patients with metastatic cancer in in the community setting.

Álvarez, Ricardo H.; Chalmers, Zachary R.; Schrock, Alexa B.; Tapias, Carolina Alvarez; Frampton, Garrett M.; Krämer, Kim; Miller, Vincent A.; Ali, Siraj M.; Tan, Bradford A.; Markman, Maurie

doi:10.1200/jco.2016.34.15_suppl.e23120

JCO

2016

DOI: 10.1200/jco.2016.34.15_suppl.e23120

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Comparison of comprehensive genomic profiling (CGP) and hotspot next generation sequencing (NGS) assays in identifying treatment options for care of patients with metastatic cancer in in the community setting.

Ricardo H. Álvarez

Zachary R. Chalmers²,

Alexa B. Schrock³

et al.

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Recommendations to improve the clinical adoption of NGS‐based cancer diagnostics in Singapore

Tan

et al. 2020

Asia-Pac J Clncl Oncology

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Next‐generation sequencing (NGS)‐based diagnostics have demonstrated clinical utility in predicting improved survival benefits with targeted treatment in certain cancer types, and positive cost–benefit in several healthcare systems. However, clinical adoption in Singapore remains low despite commercial availability of these diagnostics. This expert opinion review examines the key challenges to the clinical adoption of NGS‐based diagnostics in Singapore, provides recommendations on impactful initiatives to improve adoption, and also offers practical guidance on specific cancer types in which NGS‐based diagnostics are appropriate for use in Singapore. Limited patient affordability is one major challenge to clinical adoption of NGS‐based diagnostics, which could be improved by enabling patient access to more funds for specific cancer types with clear benefits. Expert opinion based on current evidence and clinical experience supports the upfront use of hotspot panels in advanced non–small cell lung cancer (NSCLC), metastatic colorectal cancer, advanced and recurrent ovarian cancer, and acute myeloid leukemia. Comprehensive genomic profiling could be considered for upfront use in select patients with NSCLC and ovarian cancer, or in refractory patients with the four cancer types. Wider adoption of NGS‐based diagnostics will improve the delivery of cancer care in Singapore and Asia‐Pacific, and thus lead to better patient outcomes.

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Recommendations to improve the clinical adoption of NGS‐based cancer diagnostics in Singapore

Tan

et al. 2020

Asia-Pac J Clncl Oncology

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The Quest for Improving Treatment of Cancer of Unknown Primary (CUP) Through Molecularly-Driven Treatments: A Systematic Review

et al. 2020

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Background: Carcinomas of unknown primary (CUP) account for 3-5% of all malignancy and, despite a reduction in incidence, the overall survival has not improved over the last decade. Chemotherapy regimens have not provided encouraging results. New diagnostic technologies, such as next generation sequencing (NGS), could represent a chance to identify potentially targetable genomic alterations in order to personalize treatment of CUP and provide insights into tumor biology. Methods: A systematic review of studies of patients with CUP, whose tumor specimen was evaluated through a NGS panel, has been performed on June 10th, 2019 according to PRISMA criteria from PubMed, ASCO meeting library and Clinicaltrial.gov. We have identified potentially targetable alterations for which approved/off-label/in clinical trials drugs are available. Moreover, we have included case reports about CUP patients treated with targeted therapies driven by NGS results in order to explore the clinical role of NGS in this setting. Results: We have evaluated 15 publications of which eleven studies (9 full-text articles and 2 abstracts) have analyzed the genomic profiling of CUPs through NGS technology, with different platforms and with different patients cohorts, ranging from 16 to 1,806 patients. Among all these studies, 85% of patients demonstrated at least one molecular alteration, the most frequent involving TP53 (41.88%), KRAS (18.81%), CDKN2A (8.8%), and PIK3CA (9.3%). A mean of 47.3% of patients harbored a potentially targetable alteration for which approved/off-label/in clinical trials drugs were available. Furthermore, we have identified 4 case reports in order to evaluate the clinical relevance of a specific targeted therapy identified through NGS. Conclusions: NGS may represent a tool to improve diagnosis and treatment of CUP by identifying therapeutically actionable alterations and providing insights into tumor biology.

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Implementation of Comprehensive Genomic Profiling in Ovarian Cancer Patients: A Retrospective Analysis

Hasson

Hershkovitz

Adar

et al. 2022

Cancers

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Comprehensive genomic profiling (CGP) allows for the detection of driver alterations at high resolution, but the limited number of approved targeted therapies and their high costs have contributed to its limited clinical utilization. We retrospectively compared data of 946 women with ovarian cancer (11.4% were referred to CGP, and 88.6% served as control) to examine whether CGP provides a prognosis benefit. Patient baseline parameters were similar between the groups. Cox regression analysis adjusted for age, disease stage at diagnosis, and recurrence status showed statistically significantly longer median overall survival (mOS) in the CGP group versus the control (73.4 versus 54.5 months, p < 0.001). Fifty-four patients (52.9%) had actionable mutations with potential treatments; twenty-six (48.2%) were treated with matched targeted therapy, showing a trend for longer mOS than the eighty-six women in the CGP group who were not given a suggested treatment (105.5 versus 63.6 months, p = 0.066). None of the genomic alterations predicted metastasis location. CCNE1 amplification and KRAS mutations were associated with shorter mOS. Patients with tumor mutation burden ≥4 mutations/megabase had longer mOS. High loss of heterozygosity was associated with longer mOS (99.0 versus 48.2 months, p = 0.004). CGP testing may provide both prognostic and predictive insights for treatment of patients with ovarian cancer. Prospective studies of larger cohorts are warranted.

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Comparison of comprehensive genomic profiling (CGP) and hotspot next generation sequencing (NGS) assays in identifying treatment options for care of patients with metastatic cancer in in the community setting.

Cited by 3 publications

References 0 publications

Recommendations to improve the clinical adoption of NGS‐based cancer diagnostics in Singapore

Recommendations to improve the clinical adoption of NGS‐based cancer diagnostics in Singapore

The Quest for Improving Treatment of Cancer of Unknown Primary (CUP) Through Molecularly-Driven Treatments: A Systematic Review

Implementation of Comprehensive Genomic Profiling in Ovarian Cancer Patients: A Retrospective Analysis

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