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Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series.

ABSTRACT: PURPOSE:High throughput panel sequencing to tailor therapy in precision oncology promises to improve outcome in patients with metastatic breast cancer. However, data that clearly show any benefit from such an approach is still pending. MATERIALS AND METHODS:We performed a retrospective analysis of advanced breast cancer patients that underwent panel sequencing for suggestion of target related drugs. We aimed to (i) determine the frequency of actionable mutations per patient and to (ii) assess the clinical impact of results on treatment options. RESULTS:A total of 52 patients underwent panel sequencing of archived tumor tissue. Every sample showed at least one affected gene, accounting for actionable mutations in 45 of 52 patients (87%). New treatment options that would not have been used as indicated by standard predictive markers (such as hormonal receptor status or HER2-status) were found in 22 of 52 patients (42%). We detected therapeutic relevant pathogenic germline variants in 9,6% (5/52) of the patients. CONCLUSIONS:Using a high throughput-panel sequencing approach to identify actionable mutations in patients with metastatic breast cancer, we identified potential target-related treatment options in a large proportion of our patients, some of which would not have been considered without this data. Prospective clinical trials with compounds targeting the identified actionable mutations are needed to determine which treatments can indeed improve survival or quality of life by limiting exposure to ineffective drugs in advanced breast cancer.

SUBMITTER: Walter C

PROVIDER: S-EPMC7476733 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series.

Walter Christina C Hartkopf Andreas A Koch Andre A Klaumünzer Marion M Schulze Martin M Grischke Eva-Maria EM Taran Florin-Andrei FA Brucker Sara S Battke Florian F Biskup Saskia S

Oncotarget 20200901 35

<h4>Purpose</h4>High throughput panel sequencing to tailor therapy in precision oncology promises to improve outcome in patients with metastatic breast cancer. However, data that clearly show any benefit from such an approach is still pending.<h4>Materials and methods</h4>We performed a retrospective analysis of advanced breast cancer patients that underwent panel sequencing for suggestion of target related drugs. We aimed to (i) determine the frequency of actionable mutations per patient and to ...[more]

PMID: 32934773

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Project description:BackgroundUp to 36% of patients admitted to the ICU for COVID-19 require tracheostomy. While the literature recommends the use of multidisciplinary teams in the management of patients with tracheostomy for other diseases, little is known on the collaborative administration of physical therapy and speech language pathology services in the COVID-19 population.PurposeWe sought to determine the outcomes of a collaboration between physical therapy (PT) and speech language pathology (SLP) in the treatment of patients who underwent tracheostomy placement as part of their treatment for COVID-19 at our facility.MethodsWe conducted a retrospective case series on patients with COVID-19 who had a tracheostomy. We included patients who had undergone mechanical ventilation for 14 days or longer, had a surgical tracheostomy, been discharged from intensive care to a medical unit, and received PT and SLP referrals. We compiled retrospective data from electronic medical records, analyzing days from tracheostomy to achievement of PT and SLP functional milestones, including mobility, communication, and swallowing. Of six critically ill patients with COVID-19 who had tracheostomy placement at our facility, three met inclusion criteria: patient 1, a 33-year-old woman; patient 2, an 84-year-old man; and patient 3, an 81-year-old man. For all patients, PT interventions focused on breathing mechanics, secretion clearance, posture, sitting balance, and upper and lower extremity strengthening. SLP interventions focused on cognitive reorganization, verbal and nonverbal communication, secretion management, and swallowing function. Intensity and duration of the sessions were adapted according to patient response and level of fatigue.ResultsWe found that time to tracheostomy from intubation for the three patients was 23 days, 20 days, and 24 days, respectively. Time from tracheostomy insertion to weaning from ventilator was 9 days for patient 1, and 5 days for patient 2 and patient 3. Regarding time to achieve functional PT and SLP milestones, all patients achieved upright sitting with PT prior to achieving initial SLP milestone of voicing with finger occlusion. Variations in progression to swallowing trials were patient specific and due to respiratory instability, cognitive deficits, and limitations in production of an effortful swallow. Patient participation in therapy sessions improved following establishment of oral verbal communication.ConclusionInterdisciplinary cooperation and synchronized implementation of PT and SLP interventions in three COVID-19 patients following prolonged intubation facilitated participation in treatment and achievement of functional milestones. Further study is warranted.

Project description:BackgroundWith rapid advances in genomic medicine, the complexity of delivering precision medicine to oncology patients across a university health system demanded the creation of a Molecular Tumor Board (MTB) for patient selection and assessment of treatment options. The objective of this report is to analyze our progress to date and discuss the importance of the MTB in the implementation of personalized medicine.Materials and methodsPatients were reviewed in the MTB for appropriateness for comprehensive next generation sequencing (NGS) cancer gene set testing based on set criteria that were in place. Because profiling of stage IV lung cancer, colon cancer, and melanoma cancers were standard of care, these cancer types were excluded from this process. We subsequently analyzed the types of cases referred for testing and approved with regards to their results.Results191 cases were discussed at the MTB and 132 cases were approved for testing. Forty-six cases (34.8%) had driver mutations that were associated with an active targeted therapeutic agent, including BRAF, PIK3CA, IDH1, KRAS, and BRCA1. An additional 56 cases (42.4%) had driver mutations previously reported in some type of cancer. Twenty-two cases (16.7%) did not have any clinically significant mutations. Eight cases did not yield adequate DNA. 15 cases were considered for targeted therapy, 13 of which received targeted therapy. One patient experienced a near complete response. Seven of 13 had stable disease or a partial response.ConclusionsMTB at University of Alabama-Birmingham is unique because it reviews the appropriateness of NGS testing for patients with recurrent cancer and serves as a forum to educate our physicians about the pathways of precision medicine. Our results suggest that our detection of actionable mutations may be higher due to our careful selection. The application of precision medicine and molecular genetic testing for cancer patients remains a continuous educational process for physicians.

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Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series.

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Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series.

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