scholarly journals Genomic Profiling of Circulating Tumor DNA From Cerebrospinal Fluid to Guide Clinical Decision Making for Patients With Primary and Metastatic Brain Tumors

2020 ◽  
Vol 11 ◽  
Author(s):  
Lori A. Ramkissoon ◽  
Worthy Pegram ◽  
James Haberberger ◽  
Natalie Danziger ◽  
Glenn Lesser ◽  
...  
Author(s):  
Sunil L. Bangare ◽  
G. Pradeepini ◽  
Shrishailappa Tatyasaheb Patil

The issue of brain magnetic resonance image exploration together with classification receives a significant awareness in recent years. Indeed, various computer-aided-diagnosis solutions were suggested to support radiologist in decision-making. In this circumstance, adequate image classification is extremely required as it is the most common critical brain tumors which often develop from subdural hematoma cells, which might be common type in adults. In healthcare milieu, brain MRIs are intended for identification of tumor. In this regard, various computerized diagnosis systems were suggested to help medical professionals in clinical decision-making. As per recent problems, Neuroendoscopy is the gold standard intended for discovering brain tumors; nevertheless, typical Neuroendoscopy can certainly overlook ripped growths. Neuroendoscopy is a minimally-invasive surgical procedure in which the neurosurgeon removes the tumor through small holes in the skull or through the mouth or nose. Neuroendoscopy enables neurosurgeons to access areas of the brain that cannot be reached with traditional surgery to remove the tumor without cutting or harming other parts of the skull. We focused on finding out whether or not visual images of tumor ripped lesions ended up being much better by auto fluorescence image resolution as well as narrow-band image resolution graphic evaluation jointly with the latest neuroendoscopy technique. Also, within the last several years, pathology labs began to proceed in the direction of an entirely digital workflow, using the electronic slides currently being the key element of this technique. Besides lots of benefits regarding storage as well as exploring capabilities with the image information, among the benefits of electronic slides is that they can help the application of image analysis approaches which seek to develop quantitative attributes to assist pathologists in their work. However, systems also have some difficulties in execution and handling. Hence, such conventional method needs automation. We developed and employed to look for the targeted importance along with uncovering the best-focused graphic position by way of aliasing search method incorporated with new Neuroendoscopy Adapter Module (NAM) technique.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 3523-3523
Author(s):  
Pat Gulhati ◽  
Karan Pandya ◽  
Hiba I. Dada ◽  
Christopher R. Cogle ◽  
Jason S. Starr ◽  
...  

3523 Background: Small bowel adenocarcinoma (SBA) is a rare malignancy, with lower incidence, later stage at diagnosis, and worse overall survival compared to other intestinal cancers, such as colorectal cancer (CRC). Since the majority of small bowel tumors are not accessible to endoscopic biopsy, comprehensive genomic profiling using circulating tumor DNA (ctDNA) may enable non-invasive detection of targetable genomic alterations (GA) in SBA patients. In this study, we characterize the ctDNA GA landscape in SBA. Methods: Analysis of 299 ctDNA samples prospectively collected from 265 SBA patients between 2017 to 2020 was performed using a 73 gene next generation sequencing panel (Guardant360). A subset of patients underwent longitudinal analysis of changes in GA associated with systemic therapy. Results: Of the 265 patients, 160 (60.3%) were male; the median age was 66 (range: 21-93 years). The most common GA identified in SBA patients included TP53 [58%], KRAS [44%], and APC [40%]. MSI was detected in 3.4% of SBA patients. When stratified by primary tumor location, APC, KRAS, TP53, PIK3CA, and ARID1A were the most common GA identified in both duodenal and jejunal adenocarcinomas. ERBB2, BRCA2 and CDK6 alterations were enriched in duodenal adenocarcinoma, while NOTCH and BRAF alterations were enriched in jejunal adenocarcinoma. The most common currently-targetable GA identified were ATM [18%], PIK3CA [17%], EGFR [15%], CDK4/6 [11%], BRAF [10%], and ERBB2 [10%]. Unique differences in GA between SBA and CRC were identified: i) the majority of ERBB2 alterations are mutations (89%) in the extracellular domain and kinase domain, not amplifications (11%); ii) the majority of BRAF alterations are non V600E mutations (69%) and amplifications (28%); iii) there is a significantly lower rate of APC mutations (40%). Alterations in DNA damage response pathway proteins, including ATM and BRCA 1/2, were identified in 30% of SBA patients. ATM alterations were more common in patients ³65 years old. The most common mutations predicted to be related to clonal hematopoiesis of indeterminate potential were TP53, KRAS and GNAS. Longitudinal ctDNA analysis in 4 SBA patients revealed loss of mutations associated with therapeutic response (TP53 R342*, MAPK3 R189Q) and acquired mutations associated with therapeutic resistance (NF1 R1968*, MET S170N, RAF1 L613V). Conclusions: This study represents the first large-scale blood-based ctDNA genomic profiling of SBA. SBA represents a unique molecular entity with differences in frequency and types of GA compared to CRC. Variations in GA were noted based on anatomic origin within the small intestine. Longitudinal ctDNA monitoring revealed novel GA associated with therapeutic resistance. Identification of multiple targetable GA may facilitate clinical decision making and improve patient outcomes in SBA, especially when a tissue biopsy is not feasible or sufficient for comprehensive genomic profiling.


2015 ◽  
Vol 54 (3) ◽  
pp. 802-804 ◽  
Author(s):  
James E. Scriven ◽  
Lisa M. Graham ◽  
Charlotte Schutz ◽  
Thomas J. Scriba ◽  
Robert J. Wilkinson ◽  
...  

Fungal burden in the cerebrospinal fluid is an important determinant of mortality in cryptococcal meningitis, but its use in aiding clinical decision making is hampered by the time involved to perform quantitative cultures. Here, we demonstrate the potential of flow cytometry as a novel and rapid technique to address this issue.


Author(s):  
Lukas Weiss

SummaryThe 2021 ASCO Annual Meeting provided updates on novel therapies in rare subgroups of metastatic colorectal cancer, such as immunotherapy in microsatellite instable colorectal cancer and antibody–drug conjugate therapy in HER2-positive disease. Furthermore, the concept of anti-EGFR rechallenge therapy has received additional momentum with data from the CHRONOS trial in regard to treating patients in later lines as well as how to integrate analysis of circulating tumor DNA in clinical decision-making.


2018 ◽  
Vol 36 (15_suppl) ◽  
pp. e21629-e21629
Author(s):  
Anthony Classon ◽  
Kasey Couts ◽  
Laurie M. Gay ◽  
Bahar Yilmazel ◽  
Caitlin Patriquin ◽  
...  

2018 ◽  
Vol 36 (30_suppl) ◽  
pp. 228-228
Author(s):  
Cristiane Decat Bergerot ◽  
Paulo Gustavo Bergerot ◽  
Joann Hsu ◽  
Nazli Dizman ◽  
Stacy W. Gray ◽  
...  

228 Background: Genomic profiling (GP) plays an important role in the care of patients diagnosed with advanced cancer, and has been used to guide clinical decision making. As age has been associated with low health literacy, we sought to determine comprehension of the goals and objectives of GP between younger (age < 65) and older (age ≥65) with genitourinary cancers. Methods: Eligible patients had agreed to receive somatic GP as a part of routine clinical care through a CLIA-certified commercially available platform. Participating physicians conducted a standardized dialogue with patients pertaining to the rationale for and clinical utility of somatic GP. Patients then received an in-person survey lasting approximately 10-15 min and assessing a broad range of perceptions related to GP. Results: Among 47 patients, 62% were characterized as older adults. Diagnoses encountered included kidney (43%), prostate (32%), and bladder (25%). Only older adults perceived any shortcomings in the description of GP. These shortcomings related to the clarity of the descriptions of genomic data, as well as the accuracy, detail and compassion with which this information was conveyed. Older adults demonstrated a very strong reliance on physician input in their decision to obtain somatic GP - 42% of older adults suggested that trust in their physician was among the top three reasons for which they opted to do genomic testing, in contrast to just 10% of younger patients (P = 0.04). Both older and younger patients demonstrated frequent misconceptions pertaining to the role of GP. For example, the majority of younger (78%) and older (52%) patients suggested the test was being performed for prognostic purposes. Both groups also frequently held the notion that somatic testing could identify hereditary cancer-related disorders (younger: 78% vs older: 66%). Conclusions: Detailed surveys of patients with genitourinary cancers reveal varied comprehension of somatic GP between younger and older patients. Interventions to enhance understanding of the principles of GP may be helpful in facilitating shared decision-making, particularly among older patients.


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