The Experts below are selected from a list of 66 Experts worldwide ranked by ideXlab platform
Inge Tinhofer - One of the best experts on this subject based on the ideXlab platform.
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targeted next generation sequencing identifies molecular subgroups in squamous cell carcinoma of the head and neck with Distinct Outcome after concurrent chemoradiation
Annals of Oncology, 2016Co-Authors: Inge Tinhofer, Albrecht Stenzinger, T Eder, Robert Konschak, Franziska Niehr, Volker EndrisAbstract:ABSTRACT The value of mutational profiling by targeted next-generation sequencing (NGS) for risk stratification of patients with locally advanced oro-/hypopharyngeal carcinomas treated with concurrent chemoradiation was established. Besides HPV status and clinical factors, somatic mutations in TP53 and NOTCH1, and two germline variants in KDR were identified as independent risk factors for Outcome. Background Based on epidemiological (HPV status, smoking habits) and clinical risk factors (T/N stage), three subgroups of patients suffering from locally advanced oropharyngeal carcinoma with significantly different Outcome after concurrent chemoradiation (cCRTX) can be distinguished. Mutational profiling by targeted next-generation sequencing (NGS) might further improve risk stratification. Patients and methods Patients with stage IV squamous cell carcinoma of the oropharynx and hypopharynx who had been enrolled in a randomized phase III trial (ARO-0401) comparing two regimens of cCRTX and from whom archival tumor specimens were available were included. The HPV status was determined by p16 immunostaining and detection of HPV DNA. Targeted NGS covering 45 genes frequently altered in squamous cell carcinoma of the head and neck (SCCHN) was applied for detection of non-synonymous somatic and germline mutations. Interference of mutational profiles with cCRTX efficacy was determined. Results The prognostic value of the ‘Ang’ risk model could be confirmed in the total biomarker study cohort (N = 175) as well as the patient subgroup for which mutational profiles could be established (N = 97). Mutations in genes involved in phosphoinositide 3-kinase (PI3K), receptor tyrosine kinase (RTK), and p53 signaling pathways were significantly enriched in the low- (N = 7), intermediate- (N = 20), and high-risk group (N = 70), respectively. Mutations in TP53 identified a subgroup of high-risk patients with dismal Outcome after cCRTX. No prognostic relevance was observed for mutations in PI3K and RTK signaling pathways in the low- and intermediate-risk groups, respectively. Mutated NOTCH1 and two functional KDR germline variants (rs2305948, rs1870377) were associated with improved Outcome in all risk groups. All genetic markers (TP53, NOTCH1, KDR) remained independent prognosticators of OS in the multivariate model. Conclusion A potential of targeted NGS for risk classification of SCCHN cases beyond HPV status and clinical factors was demonstrated.
Andrea Tubaro - One of the best experts on this subject based on the ideXlab platform.
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do young patients with renal cell carcinoma feature a Distinct Outcome after surgery a comparative analysis of patient age based on the multinational corona database
The Journal of Urology, 2014Co-Authors: Atiqullah Aziz, Richard Zigeuner, Martin Pichler, Thomas F Chromecki, Luca Cindolo, Luigi Schips, Ottavio De Cobelli, Bernardo Rocco, Cosimo De Nunzio, Andrea TubaroAbstract:Purpose: We analyzed the Distinct clinicopathological features and prognosis of patients with renal cell carcinoma age 40 years or less compared to a reference group of patients 60 to 70 years old.Materials and Methods: Overall 2,572 patients retrieved from a multicenter international database comprised of 6,234 patients with surgically treated renal cell carcinoma were included in this retrospective study. Clinical and histopathological features of 297 patients 40 years old or younger (4.8%) were compared to those of 2,275 patients (36.5%) 60 to 70 years old, who served as the reference group. Median followup was 59 months. The impact of young age and further parameters on disease specific mortality and all cause mortality was evaluated by multivariate Cox proportional hazards regression analyses.Results: Young patients more frequently underwent nephron sparing surgery (27% vs 20%, p = 0.008) and regional lymph node dissection compared to older patients (38% vs 32%, p = 0.025). Organ confined tumor stage...
Volker Endris - One of the best experts on this subject based on the ideXlab platform.
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targeted next generation sequencing identifies molecular subgroups in squamous cell carcinoma of the head and neck with Distinct Outcome after concurrent chemoradiation
Annals of Oncology, 2016Co-Authors: Inge Tinhofer, Albrecht Stenzinger, T Eder, Robert Konschak, Franziska Niehr, Volker EndrisAbstract:ABSTRACT The value of mutational profiling by targeted next-generation sequencing (NGS) for risk stratification of patients with locally advanced oro-/hypopharyngeal carcinomas treated with concurrent chemoradiation was established. Besides HPV status and clinical factors, somatic mutations in TP53 and NOTCH1, and two germline variants in KDR were identified as independent risk factors for Outcome. Background Based on epidemiological (HPV status, smoking habits) and clinical risk factors (T/N stage), three subgroups of patients suffering from locally advanced oropharyngeal carcinoma with significantly different Outcome after concurrent chemoradiation (cCRTX) can be distinguished. Mutational profiling by targeted next-generation sequencing (NGS) might further improve risk stratification. Patients and methods Patients with stage IV squamous cell carcinoma of the oropharynx and hypopharynx who had been enrolled in a randomized phase III trial (ARO-0401) comparing two regimens of cCRTX and from whom archival tumor specimens were available were included. The HPV status was determined by p16 immunostaining and detection of HPV DNA. Targeted NGS covering 45 genes frequently altered in squamous cell carcinoma of the head and neck (SCCHN) was applied for detection of non-synonymous somatic and germline mutations. Interference of mutational profiles with cCRTX efficacy was determined. Results The prognostic value of the ‘Ang’ risk model could be confirmed in the total biomarker study cohort (N = 175) as well as the patient subgroup for which mutational profiles could be established (N = 97). Mutations in genes involved in phosphoinositide 3-kinase (PI3K), receptor tyrosine kinase (RTK), and p53 signaling pathways were significantly enriched in the low- (N = 7), intermediate- (N = 20), and high-risk group (N = 70), respectively. Mutations in TP53 identified a subgroup of high-risk patients with dismal Outcome after cCRTX. No prognostic relevance was observed for mutations in PI3K and RTK signaling pathways in the low- and intermediate-risk groups, respectively. Mutated NOTCH1 and two functional KDR germline variants (rs2305948, rs1870377) were associated with improved Outcome in all risk groups. All genetic markers (TP53, NOTCH1, KDR) remained independent prognosticators of OS in the multivariate model. Conclusion A potential of targeted NGS for risk classification of SCCHN cases beyond HPV status and clinical factors was demonstrated.
Helena Pité - One of the best experts on this subject based on the ideXlab platform.
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Wheezing Phenotypes in Childhood – Is it Already Asthma?
European Respiratory & Pulmonary Diseases, 2020Co-Authors: Mário Morais-almeida, Helena PitéAbstract:Wheezing in early childhood is common but highly heterogeneous. Distinguishing early wheeze phenotypes to predict long-term asthma persistence is of major clinical relevance. The comprehensive analysis of longitudinal datasets, including novel ‘unbiased’ statistical approaches to detect clusters from objective data, may allow better comparisons in different population settings. The recognition of such Distinct Outcome groups is valuable for parents’ informed counselling and a prerequisite for phenotype-specific tailored interventional measures to reduce asthma burden from paediatric age until adulthood.
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Wheezing Phenotypes in Childhood - Is it Already Asthma?
2020Co-Authors: Mário Morais-almeida, Helena PitéAbstract:Wheezing in early childhood is common but highly heterogeneous. Distinguishing early wheeze phenotypes to predict long-term asthma persistence is of major clinical relevance. The comprehensive analysis of longitudinal datasets, including novel ‘unbiased’ statistical approaches to detect clusters from objective data, may allow better comparisons in different population settings. The recognition of such Distinct Outcome groups is valuable for parents’ informed counselling and a prerequisite for phenotype-specific tailored interventional measures to reduce asthma burden from paediatric age until adulthood.
Franziska Niehr - One of the best experts on this subject based on the ideXlab platform.
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targeted next generation sequencing identifies molecular subgroups in squamous cell carcinoma of the head and neck with Distinct Outcome after concurrent chemoradiation
Annals of Oncology, 2016Co-Authors: Inge Tinhofer, Albrecht Stenzinger, T Eder, Robert Konschak, Franziska Niehr, Volker EndrisAbstract:ABSTRACT The value of mutational profiling by targeted next-generation sequencing (NGS) for risk stratification of patients with locally advanced oro-/hypopharyngeal carcinomas treated with concurrent chemoradiation was established. Besides HPV status and clinical factors, somatic mutations in TP53 and NOTCH1, and two germline variants in KDR were identified as independent risk factors for Outcome. Background Based on epidemiological (HPV status, smoking habits) and clinical risk factors (T/N stage), three subgroups of patients suffering from locally advanced oropharyngeal carcinoma with significantly different Outcome after concurrent chemoradiation (cCRTX) can be distinguished. Mutational profiling by targeted next-generation sequencing (NGS) might further improve risk stratification. Patients and methods Patients with stage IV squamous cell carcinoma of the oropharynx and hypopharynx who had been enrolled in a randomized phase III trial (ARO-0401) comparing two regimens of cCRTX and from whom archival tumor specimens were available were included. The HPV status was determined by p16 immunostaining and detection of HPV DNA. Targeted NGS covering 45 genes frequently altered in squamous cell carcinoma of the head and neck (SCCHN) was applied for detection of non-synonymous somatic and germline mutations. Interference of mutational profiles with cCRTX efficacy was determined. Results The prognostic value of the ‘Ang’ risk model could be confirmed in the total biomarker study cohort (N = 175) as well as the patient subgroup for which mutational profiles could be established (N = 97). Mutations in genes involved in phosphoinositide 3-kinase (PI3K), receptor tyrosine kinase (RTK), and p53 signaling pathways were significantly enriched in the low- (N = 7), intermediate- (N = 20), and high-risk group (N = 70), respectively. Mutations in TP53 identified a subgroup of high-risk patients with dismal Outcome after cCRTX. No prognostic relevance was observed for mutations in PI3K and RTK signaling pathways in the low- and intermediate-risk groups, respectively. Mutated NOTCH1 and two functional KDR germline variants (rs2305948, rs1870377) were associated with improved Outcome in all risk groups. All genetic markers (TP53, NOTCH1, KDR) remained independent prognosticators of OS in the multivariate model. Conclusion A potential of targeted NGS for risk classification of SCCHN cases beyond HPV status and clinical factors was demonstrated.