Abstract SY15-03: Coding and noncoding genome for blood biopsy

Author(s):  
Daniel F. Hayes ◽  
Catherine Alix-Panabières ◽  
George A. Calin
Keyword(s):  
Diagnostics ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 412
Author(s):  
Luelle Robles ◽  
Ronny Priefer

Lactose intolerance has seen recognized as a clinical syndrome characterized by pain, abdominal distention, flatulence, and diarrhea after the consumption of lactose. Lactose is a common disaccharide found in dairy that requires lactase-phlorizin hydrolase (LPH) to break down into glucose and galactose. A deficiency in this enzyme results in flora bacteria further along in the gastrointestinal tract (GI) tract to metabolize the excess lactose to numerous gases, including H2. Recent studies show that the risk of symptoms after lactose ingestion depends on the dose of lactose, LPH expression, intestinal flora, and sensitivity of the gastrointestinal tract. Currently, there are several diagnostic tests that investigate the biological mechanism of lactose intolerance such as blood, biopsy, genetic, and breath tests. Due to its relatively low cost, availability, and non-invasiveness, the hydrogen breath test (HBT) has become a popular technology to aid in the diagnosis of many gastroenterological diseases, specifically lactose intolerance. Additionally, while administering the HBT there seems to be a lack of uniform criteria amongst the various studies, with many using their own guidelines, which may in turn cause inconsistency with the analysis of the results. With ever improving nanotechnology, novel approaches to expedite and lower the costs of the HBT has become an area of research with significant advancements.


Author(s):  
Naiqun Wang ◽  
Xiaolian Zhang ◽  
Feilong Wang ◽  
Min Zhang ◽  
Bo Sun ◽  
...  

Epidermal growth factor receptor (EGFR) mutations are the most common carcinogenic driver mutations in non-small-cell lung cancer (NSCLC) patients, while invasive tissue biopsy has certain inherent defects. PubMed, Ovid Medline, Embase, and the Cochrane Library were systematically searched on January 4, 2020, using the keywords “liquid biopsy,” “EGFR,” and “NSCLC.” The pooled sensitivity and specificity of EGFR mutations in paired tissue and blood were calculated. The accuracy was assessed by receiver operating characteristic curve. The meta-regression of the subgroup was performed to analyze the heterogeneity. Hazard ratio (HR) and 95% confidence interval (CI) were combined for evaluating the impact of EGFR mutation in tissue and liquid blood biopsy. A total of 40 studies with 5,995 patients were involved in the study. The pooled sensitivity was 68% (95% CI = 60–75%), and the specificity was 98% (95% CI = 95–99%). The diagnostic odds ratio was 88 (95% CI = 40–195), and the area under the curve was 0.91 (95% CI = 0.88–0.93). In the meta-regression, the sensitivity and specificity remain lower in the Asian studies than non-Asian studies (sensitivity: 66% vs. 73%, P = 0.04; specificity: 96% vs. 97%, P = 0.03, respectively). The EGFR mutation was associated with a better progression-free survival than wild type in both tissue (HR = 0.54, 95% CI = 0.34–0.85, P = 0.007) and blood (HR = 0.81, 95% CI = 0.71–0.92, P = 0.001) detection. Peripheral blood liquid biopsy had a better specificity for detecting EGFR mutation in NSCLC patients, while tissue biopsy still needs to be undertaken for negative blood biopsy patients due to its lower sensitivity.


Author(s):  
Daniel F. Hayes ◽  
Catherine Alix-Panabières ◽  
George A. Calin
Keyword(s):  

2015 ◽  
Vol 33 (7_suppl) ◽  
pp. 147-147 ◽  
Author(s):  
Howard I. Scher ◽  
Jessica Louw ◽  
Adam Jendrisak ◽  
Richard Martin Bambury ◽  
Daniel Costin Danila ◽  
...  

147 Background: The optimal sequence to administer approved life prolonging ARS inhibitors: Abiraterone (A) and Enzalutamide (E),and taxanes: Docetaxel (D) and Cabazitaxel (C), to maximize individual pt benefit is an unmet medical need. Sensitivity to an individual agent is dependent on the intrinsic biology of the tumor and the treatment to which it has been exposed. For each agent, response rates are lower in pts who have received prior treatment with any of the other drugs, but for the individual, sensitivity to one does not necessarily predict sensitivity to the other. We sought to develop response and resistance signatures to A & E or D & C from a baseline blood sample. Methods: 91 pt blood samples collected from 79 pts for CTC analysis with the Epic Sciences platform prior to treatment (27 pre-A, 28 pre-E, 28 pre-D, 8 pre-C). Epic analysis identified traditional CTCs (CK+, CD45-, intact nuclei, morph distinct), CK- CTCs (CK-, CD45-, intact nuclei, morph distinct), small CTCs (CK+, CD45-, intact nuclei, small cell size), and CTC clusters. IF staining for AR N, AR C exp were performed, digital pathology algorithms analyzed CTC morphology. A classifier was developed to associate clinical phenotypes with outcome to a specific agent. Results: A and E signatures included: AR N/C exp. and presence of CK+, AR+, Nucleoli+ CTCs. D and C signatures by: presence of CK+, small, AR-, Nucleoli+ CTCs. Multivariate algorithms for A and E and D & C were statistically associated with de novo resistance. Line of therapy was not a univariate predictor of response. Conclusions: Characterization of CTCs identified predictive biomarkers of sensitivity to ARS Tx and taxane chemotherapy in mCRPC pts. The proposed A&E signature differs from C and D, providing the opportunity to better guide treatment selection and improve patient outcomes using a real-time, non-invasive blood biopsy. Prospective trials to validate results are planned. [Table: see text]


2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Takayuki Tanaka ◽  
Kengo Kanetaka ◽  
Takahiro Ikeda ◽  
Shun Yamaguchi ◽  
Syunsuke Kawakami ◽  
...  

Abstract Background Meningeal carcinomatosis is a very rare metastatic site of gastric cancer and meningeal carcinomatosis without other metastatic sites is much extremely rare. Herein, we report our experience with a very rare case of meningeal carcinomatosis which was difficult to diagnose the recurrence by general systemic examination and was found due to the deafness despite the sustained high tumor markers. Case presentation A 68-year-old man consulted a hospital with vomiting and hematemesis. Laboratory tests revealed severe anemia. He was referred to our hospital and underwent an emergency gastroscopy, which revealed Borrman type 3 tumor and oozing of blood. Biopsy specimen showed gastric cancer. After several examinations, total gastrectomy was performed and tegafur-gimeracil-oteracil potassium (S-1) was initiated as adjuvant chemotherapy one month after surgery. Tumor marker levels (CEA and CA19-9) remained high for three months after surgery. S-1 was continued while shortening the imaging study follow-up period. Nine months after surgery, he noticed difficulty in hearing with facial paralysis, dizziness, tinnitus, and appetite loss. He was diagnosed with meningeal carcinomatosis and bilateral internal auditory canal metastasis. He died approximately two months later. Conclusion Meningeal carcinomatosis should be considered if bilateral deafness and vestibulopathy develop after gastrectomy, even if no recurrence is apparent in the abdominal cavity.


Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 628
Author(s):  
Konrad Sopyllo ◽  
Andrew M. Erickson ◽  
Tuomas Mirtti

Gleason grading remains the strongest prognostic parameter in localized prostate adenocarcinoma. We have here outlined the evolution and contemporary practices in pathological evaluation of prostate tissue samples for Gleason score and Grade group. The state of more observer-independent grading methods with the aid of artificial intelligence is also reviewed. Additionally, we conducted a systematic review of biomarkers that hold promise in adding independent prognostic or predictive value on top of clinical parameters, Grade group and PSA. We especially focused on hard end points during the follow-up, i.e., occurrence of metastasis, disease-specific mortality and overall mortality. In peripheral blood, biopsy-detected prostate cancer or in surgical specimens, we can conclude that there are more than sixty biomarkers that have been shown to have independent prognostic significance when adjusted to conventional risk assessment or grouping. Our search brought up some known putative markers and panels, as expected. Also, the synthesis in the systematic review indicated markers that ought to be further studied as part of prospective trials and in well characterized patient cohorts in order to increase the resolution of the current clinico-pathological prognostic factors.


2020 ◽  
Author(s):  
Kate Megquier ◽  
Kan Xiong ◽  
Heather L. Gardner ◽  
Justin Rhoades ◽  
Viktor Adalsteinsson ◽  
...  

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