scholarly journals Heterogeneity in Colorectal Cancer: A Challenge for Personalized Medicine?

2018 ◽  
Vol 19 (12) ◽  
pp. 3733 ◽  
Author(s):  
Chiara Molinari ◽  
Giorgia Marisi ◽  
Alessandro Passardi ◽  
Laura Matteucci ◽  
Giulia De Maio ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Residual Disease ◽  
False Negative ◽  
Response To Therapy ◽  
Molecular Heterogeneity ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results ◽  
Essential Components

High inter-patient variability and high spatial heterogeneity are features of colorectal cancer (CRC). This may influence the molecular characterization of tumor tissue, now mandatory for patients with metastatic CRC who are candidates for treatment with an anti-EGFR mAb, as false-negative results can occur, leading to non optimal therapy. Moreover, temporal molecular heterogeneity during treatment is known to influence the response to therapy and prognosis. We present a literature overview of advances made in characterizing molecular heterogeneity in CRC, underlining that the analysis of liquid biopsy could represent an efficient non-invasive tool to overcome the problem. We believe that understanding CRC heterogeneity is fundamental for a more accurate diagnosis, for selecting the best targets to ensure prolonged antitumor response, and for monitoring minimal residual disease and the onset of resistance to therapy, all essential components of successful personalized treatment.

scholarly journals Assessment of individual molecular response in chronic myeloid leukemia patients with atypical BCR-ABL1 fusion transcripts: recommendations by the EUTOS cooperative network

2021 ◽  
Author(s):  
Vivien Schäfer ◽  
Helen E. White ◽  
Gareth Gerrard ◽  
Susanne Möbius ◽  
Susanne Saussele ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Residual Disease ◽  
False Negative ◽  
Patient Specific ◽  
Molecular Response ◽  
Real Time Quantitative Pcr ◽  
Log Reduction ◽  
Negative Results ◽  
False Negative Results

Abstract Purpose Approximately 1–2% of chronic myeloid leukemia (CML) patients harbor atypical BCR-ABL1 transcripts that cannot be monitored by real-time quantitative PCR (RT-qPCR) using standard methodologies. Within the European Treatment and Outcome Study (EUTOS) for CML we established and validated robust RT-qPCR methods for these patients. Methods BCR-ABL1 transcripts were amplified and sequenced to characterize the underlying fusion. Residual disease monitoring was carried out by RT-qPCR with specific primers and probes using serial dilutions of appropriate BCR-ABL1 and GUSB plasmid DNA calibrators. Results were expressed as log reduction of the BCR-ABL1/GUSB ratio relative to the patient-specific baseline value and evaluated as an individual molecular response (IMR). Results In total, 330 blood samples (2–34 per patient, median 8) from 33 CML patients (19 male, median age 62 years) were analyzed. Patients expressed seven different atypical BCR-ABL1 transcripts (e1a2, n = 6; e6a2, n = 1; e8a2, n = 2; e13a3, n = 4; e14a3, n = 6; e13a3/e14a3, n = 2; e19a2, n = 12). Most patients (61%) responded well to TKI therapy and achieved an IMR of at least one log reduction 3 months after diagnosis. Four patients relapsed with a significant increase of BCR-ABL1/GUSB ratios. Conclusions Characterization of atypical BCR-ABL1 transcripts is essential for adequate patient monitoring and to avoid false-negative results. The results cannot be expressed on the International Scale (IS) and thus the common molecular milestones and guidelines for treatment are difficult to apply. We, therefore, suggest reporting IMR levels in these cases as a time-dependent log reduction of BCR-ABL1 transcript levels compared to baseline prior to therapy.

scholarly journals Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening cases

2020 ◽  
Vol 8 (4) ◽  
Author(s):  
Ying Lin ◽  
Dong Liang ◽  
Yan Wang ◽  
Hang Li ◽  
An Liu ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
False Negative ◽  
Low Risk ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

scholarly journals One-Year Update on Salivary Diagnostic of COVID-19

2021 ◽  
Vol 9 ◽  
Author(s):  
Douglas Carvalho Caixeta ◽  
Stephanie Wutke Oliveira ◽  
Leia Cardoso-Sousa ◽  
Thulio Marquez Cunha ◽  
Luiz Ricardo Goulart ◽  
...  
Keyword(s):  
Healthcare Professionals ◽  
Close Contact ◽  
False Negative ◽  
Nasopharyngeal Swab ◽  
Frontline Workers ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results ◽  
One Year ◽  
Frontline Healthcare Workers

Background: Coronavirus disease 2019 (COVID-19) is a global health problem, which is challenging healthcare worldwide. In this critical review, we discussed the advantages and limitations in the implementation of salivary diagnostic platforms of COVID-19. The diagnostic test of COVID-19 by invasive nasopharyngeal collection is uncomfortable for patients and requires specialized training of healthcare professionals in order to obtain an appropriate collection of samples. Additionally, these professionals are in close contact with infected patients or suspected cases of COVID-19, leading to an increased contamination risk for frontline healthcare workers. Although there is a colossal demand for novel diagnostic platforms with non-invasive and self-collection samples of COVID-19, the implementation of the salivary platforms has not been implemented for extensive scale testing. Up to date, several cross-section and clinical trial studies published in the last 12 months support the potential of detecting SARS-CoV-2 RNA in saliva as a biomarker for COVID-19, providing a self-collection, non-invasive, safe, and comfortable procedure. Therefore, the salivary diagnosis is suitable to protect healthcare professionals and other frontline workers and may encourage patients to get tested due to its advantages over the current invasive methods. The detection of SARS-CoV-2 in saliva was substantial also in patients with a negative nasopharyngeal swab, indicating the presence of false negative results. Furthermore, we expect that salivary diagnostic devices for COVID-19 will continue to be used with austerity without excluding traditional gold standard specimens to detect SARS-CoV-2.

scholarly journals Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

2020 ◽  
Vol 102 ◽  
Author(s):  
Alvaro Mesoraca ◽  
Katia Margiotti ◽  
Claudio Dello Russo ◽  
Anthony Cesta ◽  
Antonella Cima ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Clinical Performance ◽  
False Negative ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Trisomy 13 ◽  
Sequencing Platform ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

Abstract Introduction Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy. Methods This study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy. Results In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results. Conclusion In our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21.

False-negative results of Haemoccult test in colorectal cancer

BMJ ◽  
1981 ◽  
Vol 283 (6299) ◽  
pp. 1124-1124
Author(s):  
C. Griffith ◽  
J. H Saunders
Keyword(s):  
Colorectal Cancer ◽  
False Negative ◽  
Negative Results ◽  
False Negative Results

False-negative results of Hemoccult test in colorectal cancer

BMJ ◽  
1981 ◽  
Vol 283 (6294) ◽  
pp. 795-795
Author(s):  
K D Vellacott ◽  
P A Farrands ◽  
J D Hardcastle
Keyword(s):  
Colorectal Cancer ◽  
False Negative ◽  
Negative Results ◽  
False Negative Results ◽  
Hemoccult Test

Contact Thermography as a Screening Test for Deep Venous Thrombosis following Major Hip Surgery

1988 ◽  
Vol 29 (6) ◽  
pp. 649-652 ◽  
Author(s):  
L. Kjær ◽  
S. Winter Christensen ◽  
Aa. Vestergaard ◽  
A. Bjerg-Nielsen ◽  
P. Wille-Jørgensen
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
No Value ◽  
Screening Test ◽  
False Negative ◽  
Lower Limbs ◽  
Hip Surgery ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

Contact thermography is a non-invasive, easily handled, and inexpensive investigation for the diagnosis of deep venous thrombosis (DVT) in the lower limbs. In this study 56 patients with total hip replacement were screened for DVT by contact thermography, using bilateral ascending phlebography as reference procedure. Examinations were performed on the seventh postoperative day. All thermograms were evaluated blindly and independently at the end of the study. Phlebography revealed unilateral DVT in six patients. Only two had corresponding findings at thermography, giving four false negative results. Moreover, 14 false positive thermograms were found. Based on the number of legs investigated, the nosographic sensitivity and specificity thus were 33 and 87 per cent, respectively. It is concluded that contact thermography is of no value as a screening test for DVT following major hip surgery.

scholarly journals False-negative results of Hemoccult test in colorectal cancer.

BMJ ◽  
1981 ◽  
Vol 283 (6289) ◽  
pp. 472-472 ◽  
Author(s):  
C D Griffith ◽  
D J Turner ◽  
J H Saunders
Keyword(s):  
Colorectal Cancer ◽  
False Negative ◽  
Negative Results ◽  
False Negative Results ◽  
Hemoccult Test

False-negative results of Hemoccult test in colorectal cancer

BMJ ◽  
1981 ◽  
Vol 283 (6294) ◽  
pp. 795-795
Author(s):  
C. D M Griffith ◽  
J. H Saunders
Keyword(s):  
Colorectal Cancer ◽  
False Negative ◽  
Negative Results ◽  
False Negative Results ◽  
Hemoccult Test

scholarly journals Characterization of Focal Liver Lesions using CEUS and MRI with Liver-Specific Contrast Media: Experience of a Single Radiologic Center

2017 ◽  
Vol 38 (06) ◽  
pp. 619-625 ◽  
Author(s):  
Lukas Beyer ◽  
Florian Wassermann ◽  
Benedikt Pregler ◽  
Katharina Michalik ◽  
Janine Rennert ◽  
...  
Keyword(s):  
Contrast Media ◽  
Predictive Value ◽  
False Negative ◽  
Focal Liver Lesions ◽  
Liver Lesions ◽  
Predictive Values ◽  
Negative Results ◽  
False Negative Results ◽  
Sensitivity Specificity

Abstract Aim The purpose of this study was to compare contrast-enhanced ultrasound (CEUS), magnetic resonance imaging (MRI) using liver-specific contrast agent and a combination of both for the characterization of focal liver lesions (FLL). Methods 83 patients with both benign and malignant liver lesions were examined using CEUS and MRI after the intravenous administration of liver-specific contrast media. All patients had inconclusive results from prior imaging examinations. Histopathological specimens could be obtained in 53 patients. Ultrasound was performed using a multi-frequency curved probe (1 – 6 MHz) after the injection of 1 – 2.4 ml ultrasound contrast media. The sensitivity, specificity, positive predictive value and negative predictive value of CEUS, MRI and a combination of both (CEUS + MRI) were compared. Results The sensitivity, specificity, positive and negative predictive values regarding lesion classification were 90.9 %, 70.6 %, 92.3 % and 66.6 %, respectively, for CEUS; 90.9 %, 82.4 %, 95.2 % and 70.0 %, respectively, for MRI; and 96.9 %, 70.6 %, 92.7 % and 85.7 % respectively, for CEUS + MRI. There were no statistically significant differences. 6 malignant lesions were missed using CEUS or MRI alone (false negatives). The use of both modalities combined reduced the false-negative results to 2. Conclusion CEUS and MRI with liver-specific contrast media are very reliable and of equal informative value in the characterization of focal liver lesions. The number of false-negative results can be decreased using a combination of the two methods.

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