Poster List


Odd numbered posters will be attended by their authors on Tuesday, 4 April, 10:00 – 11:00

Even numbered posters will be attended by their authors on Wednesday 5 April, 10:00 – 11:00


G01. Complete Sequencing of TTR Gene in Brazilian Amyloidosis Patients
N. Muto

G02. Cancer Risk Assessment in Over 50 Thousand Individuals Carrying HFE Gene Variants for Type 1 Hereditary Hemochromatosis 
N.S. Kip

G03. Exome Sequencing of Breast Cancer Familial Pedigree and Functional Cellular Characterization Identifies Novel DNA Double-strand Break Repair Deficient Mutation 
H. A. Costa

G04.  Clinical Exome Re-analysis: Keeping up with Gene Discovery
J.R. Murrell

G05. Establishment of a Rapid Genotyping System to Detect Obesity-associated Loci for Clinical Usage 
M.C. Wang

G06.  ID4 Allelic Variant is Associated with Endometriosis and May Affect Mesothelial Epithelial to Mesenchymal Transition
D. Dolderer


G07. Genetic Screening for Chromosomal Abnormalities and Y Chromosome Microdeletions in 992 Korean Infertile Men 
S.H. Han


G08. New Syndrome: First Patient with Heterozygous Deleterious PIG-Q Mutations Causing a GPI-anchor Biosynthesis Deficiency 
L. Starr

G09. The Role of the Chemokine RANTES (Regulated on Activation, Normal T-cell Expressed and Secreted) as a New Diagnostic Tool in Monitoring Cardiac Adiposity 
C.R. Massimiliano


G10. Implementation of a New Automated Sample Quality Control Tool in a Whole Exome Sequencing Workflow

E. Viering


G11.  Genomic Dosage Anomalies in Circulating Tumor Cells from Early Stage Breast Cancer Serve a Surrogates for Anomalies in Primary Tumors
J.N. Sanmann


G12.  Comparison of Buccal Specimens Collected with FLOQSwabs™ to Saliva and Blood for Genetic Investigations
S. Castriciano


G13. Development of Robust PCR Assays and a Simple Analysis Solution for CYP2D6 Copy Number Assessment by High-resolution Melting Analysis on Three Commercial Instruments 
L. Jiang

G14LB. Evaluation of a Home-brew NGS Assay for the Genetic Diagnosis of MODY Subtypes 1-3 
K.S. Poon


G15LB. Patterns of PML/RARA Gene Rearrangements by Interphase Fluorescence In Situ Hybridization in Acute Promyelocytic Leukemia 
M. Lee


G16LB. Analysis of Cell-free Plasma DNA for the Discrimination of Patients with Alcohol-induced Liver Cirrhosis from Liver Cancer Patients with a New Methylation Marker Panel 
A. Zipprich


H01. Detection and Characterization of Genetic Aberration in Multiple Myeloma by Conventional and Molecular Cytogenetic Analyses 
J.Y. Han

H02. Small Customizable Next-Generation Sequencing Based Target Capture Panels in a Clinical Environment can Detect Variant Mutations at Frequencies as Low as 0.5% 
L. Chamberlain

H03. Analysis and Characterization of Hematologic Cancers Using a Comprehensive NGS Panel Comprised of DNA and RNA Baits Targeting 704 Genes
A. Carson

H04. Assessment of Minimal Residual Disease by NGS in Acute Myeloid Leukemia Patients by Monitoring FLT3 and NPM1 Mutations
Z. Xie

H05. Detection of Gene Amplification by Molecular Karyotyping in Acute Myeloid Leukemia with Marker Chromosomes 
E.J. Seo

H06. Routine Somatic Hypermutation Assessment in CLL/SLL by Next Generation Sequencing Captures Multidimensional Clinically Relevant Data and Demonstrates Higher Sensitivity than Traditional Methods 
K. Petrova-Drus


H07. ABC Subfamily C Member 10 (ABCC10) is a Promising Novel Target in Hodgkin's Lymphoma 
G.M. Abdel Salam 

H08. FISH Negative, RT-PCR Positive PML-RARA a Rare, Infrequent Phenomena in Acute Promyelocytic Leukemia: A Series of 5 Cases 
S.S. Vinarkar

H09.  Detecting Suspected B-cell Clonality using an NGS LymphoTrack IGH Assay
Y. Huang  

H10. MYD88, A20 and CARD11 in HIV Associated B-cell Lymphomas 
T. Shet

H11. Oligo-based Probes for the Rapid Detection of Lymphoma-associated Chromosomal Abnormalities in FFPE Samples 
J.N. Horne


H12. Molecular Abnormalities and their Correlation with the Prognosis of Younger Indian Patients with de novo Myelodysplastic Syndromes: AIIMS Study 
R. Chaubey

H13. Frequency of MYD88 and CXCR4 Mutation Profiling in Lymphoplasmcytic Lymphoma/Waldenstrom’s Macroglobulinaemia: Implications for the Molecular Laboratory
N. Arora


H14LB. Prevalence of Alpha Thalassemia Mutations among Filipinos in a Tertiary Care Setting
J. Malana


H15LB. Comprehensive Characterization of Targeted Sequencing Platforms to Elucidate AML-specific Mutational Landscapes
C. Fritz


H16LB. Assessment of WT1 Expression as a Marker of Treatment Outcome in Karyotype Normal Acute Myeloid Leukemia Patients in Pakistan
M.S. Shaikh


ID01. Developing Amplification Control and Extraction Control for Vaginal Health Research Workflow 
K. Li


ID02. Identification of a Multi-omic Signature Associated with Onset of GI Symptoms and Self-injurious Behavior in a Child with Autism Spectrum Disorder
R.A. Luna


ID03.  Rapid Detection and Identification of Uveitis Pathogens by Qualitative Multiplex Real Time PCR Followed by High Resolution Melting
P. Bispo


ID04.  Simultaneous Detection and Typing of Alpha, Beta and Gamma HPV Using Target Enrichment and Whole Genome Sequencing
T. Li


ID05. COPAN eNATTM Stabilizes Fecal Bacterial gDNA in Warm Climates and is Compatible with Microbiome Profiling Using the GA-map™ Dysbiosis Test

S. Castriciano


ID06.  MSwab™ Allows Viral Detection with Direct-Rapid Nucleic Acids Amplification and Culture Assays
S. Castriciano


ID07.  Characterization of Clinical Specimens Using GenMark’s ePlex® Blood Culture Identification (BCID) Panels
A. Thornberg


ID08. Clinical Evaluation of a Novel NGS-Based HIV-1 Drug Resistance Monitoring Test 
E. Rakhmanaliev

ID09. Comparison of Accupower TB&MDR Kit with Hain Genotype MTBDRPlus Kit for Detection of Mycobacterium Tuberculosis Drug Susceptibility in Pulmonary Samples 
M. Agrawal

ID10. Clinical Performance Evaluation of Lyophilized VIASURE Real Time PCR Detection Kits for Pathogen Detection by Participation in External Quality Assessment (EQA) Programs
C. Genzor

ID11. Comparison of Standard Reduced Transport Fluid (RTF) Buffer to the new eNAT Buffer Shows Vaginal Microbiome Stability for up to One Month in eNAT Buffer as Determined by the ISpro Microbiome Profiling 
S. Morre


ID12LB. Diagnostic Utility of Real-Time PCR for Mycobacterium Tuberculosis Complex Infection in Routine Clinical Practice
S. Shin


ID13LB. Usefulness of Molecular Test to Diagnose EBV Infection in Immunocompetent Patients
H.S. Kim



I02. A Bayesian Network Algorithm for the Identification of Cancer Somatic Mutations in the Lack of Normal Tissue from Targeted High-throughput Sequencing Data
F. M. De La Vega


I03. Systematic Evaluation of Genetic Alterations for Cancer Precision Medicine Reports 
P. Kumar


I04LB.  Structural Variant Simulator improves Variant Calling Accuracy in NGS
A. Leon


OTH01.  Application of the GeneReader NGS System in Analyzing a Diverse Set of Cancer Clinical Samples
L.  Oberauner-Wappis  



ST01. HPV Detection and Genotyping in Formalin-fixed Paraffin Embedded Anal Lesions 
S.S. Koide

ST02. Automated Circulating Cell-free Tumor DNA (cfDNA) Extraction and Preparation for qPCR and NGS 
T. Ivanova


ST03. Targeted Bisulfite NGS of a DNA-methylation Multimarker Panel for Cancers of the Urinary Tract in Liquid Biopsies 
S. Karst

ST04.  Multiplex Detection of Oncogenic Fusion Transcripts and MET Exon Skipping by Molecular Counting in Lung Cancer
L. Moens

ST05. Head-to-head Comparison of Two Commercially Available Next-generation Sequencing Technologies that Detect Gene Fusions in Non-small Cell Lung Cancer 
R. Blidner

ST06.  Robust Mutation Profiles in Cancer Biopsies and Resections
K. Greene

ST07. Plasma Mutation Profile Reflects Active Cancer Status 
N.D. Montgomery 

ST08. Cancer of Unknown Primary Site: The Critical Role of the Genomics Profile and Public cBioPortal 
O. Rouhi

ST09. Circulating Tumor Cells Detection Using hTERT and MAGE A1-6 PCR and Conditionally Reprogrammed Cell Culture 
C.H. Jeon

ST10. High Expression of Aldolase B Confers a Poor Prognosis for Human Rectal Cancer of Stage II/III 
I. Chang

ST11. Detect 0.1% Low Frequency Somatic Variants in Cell-free DNA Using Oncomine™ cfDNA Assays and Ion Torrent Sequencing 
K. Bramlett


ST12. A Novel Fusion of TFE-3 and LINC01010 in Renal Cell Carcinoma 
O. Rouhi


ST13.  Spectrum of RAS Mutations in 946 Korean Patients with Metastatic Colorectal Cancer
S.H. Han


ST14. A Novel AKAP13-NTRK3 Fusion in a Radiation-induced Sarcoma of the Central Nervous System 
O. Rouhi

ST15.  Defining the Molecular Profile in Patients with Non-small Cell Lung Carcinoma (NSCLC) and its Relation to First-line Treatment in a Comprehensive Cancer Center in Mexico City

M. Ibarra-Meneses

ST16.  C1GALT1 Promotes EGFR Activity and is a Potential Therapeutic Target for Head and Neck Squamous Cell Carcinoma
M.C. Lin

ST17.  Correlating MDM2 and CDK4 Amplification Levels in Dedifferentiated Liposarcoma (DDLS) with Tumor Behavior and Patient Outcome
Y. Liu

ST18. MUC20 Knockdown Suppresses Malignant Phenotypes of Pancreatic Ductal Adenocarcinoma Cells Induced by Pancreatic Stellate Cells 
S.T. Chen

ST19. Detection and Classification of Clinical Tumor Variants Using the QIAGEN GeneReader NGS System 

ST20. Application of Liquid Biopsy to Uncover Critical Cancer Insights Using the GeneReader NGS System 
L. Andruzzi

ST21. Using GeneReader NGS System to Identify Germline and Somatic Mutations in BRCA 1/2 Genes 
O. Biglia

ST22. Frequency of EGFR Mutations among Multiethnic Filipino Patients in a Tertiary Care Setting 
C.K. Estuye

ST23. A Comprehensive DNA & RNA Pediatric Cancer Panel 
T.J. Triche



ST25. Specific and Reliable Detection of NTRK Rearrangements in IHC-positive FFPE Samples of Solid Tumours by Nanostring Technology 
S. Wagener

ST26. Methylation Analysis of APC, AXIN2, DACT1, RASSF1A and MGMT Gene Promoters in Non-small Cell Lung Cancer 
A. Saetta

ST27. Expression Analysis of Wnt Pathway in Colorectal and Breast Cancer
A. Saetta

ST28.  High-throughput Sequencing-based Routine Clinical Diagnostics on Tumor Samples: Experience with the Illumina TruSight Tumor 15 Assay
B.J. Foth

ST29. Clinical Evaluation of a Rapid Cell-free EGFR Mutation Detection Kit in Plasma from NSCLC Patients 
G. Potikyan

ST30. IDH1/2 Mutations in Gliomas: A Single Tertiary Cancer Institutional Experience 
M.Y. Gurav

ST31. IQFISH Lung Cancer Panel Probes on DAKO Omnis - A Walkaway Automation for Lung Cancer FISH 
A. Khare

ST32.  Absence of MGMT Promoter Hypermethylation in H3 K27M-mutated Diffuse Midline Gliomas WHO Grade IV
R. Banan

ST33. Detection of Somatic Alterations in Circulating Cell-free DNA of Esophageal Carcinoma Patients during Primary Staging is Predictive for Post-surgical Tumor Recurrence 
H. Pasternack

ST34. Genomic Data Illustrates Informative Roles for Gene Expression and Methylation Profiles for Tumor Classification 
K. Aldape

ST35. Comparison of Two Testing Methodologies for EGFR Mutation Screening of cfDNA from Lung Cancer Patients 
M. Sundstrom


ST36. A Patient-lke Circulating Tumor DNA (ctDNA) Reference Material 
M. Ryder

ST37. Experience of Cancer Genomic Profiling of Hong Kong Chinese Cohorts 
L.P. Wong


ST38LB. Sensitive Sequencing Method for Detection of Actionable Cancer-driver Somatic Mutations in Specimens with Scarce Material
E. Golomb


ST39LB.  Mutational Analysis of FOXL2 Gene Assisting in the Diagnosis of Recurrent Adult Granulosa Cell Tumor with Unusual Morphology
T. Dolkar


ST40LB. Identification of Biomarkers for Prostate Cancer by DNA Methylation Analysis 
T. Dillinger


ST41LB. Molecular Profiling of Epidermal Growth Factor Receptor in Tunisian Patients with Non Small Cell Lung Cancer Using Real Time PCR 
A. Arfaoui


ST42LB. External Quality Assessment for Molecular Pathology: Lessons Learned and the Need for Continued Quality Improvement 
S.J. Patton


ST43LB. Next Generation Sequencing of Malignant Mullerian Mixed Tumours Identifies Gene Alterations with Potential Clinical Actionability 
E. Bellini


ST44LB. Identification of New Molecular Pathways Involved in Endometrial Cancer Progression
E. Bellini


ST45LB. ALK-IHC is a Better Predictor for Outcome after ALK Inhibition with Crizotinib than ALK-FISH in Stage IV Non-small Cell Lung Cancer 
E.J. Speel


ST46LB. MET Overexpression, Amplification and Exon-14 Skipping in Patients with Resected NSCLC: Prevalence and Clinical Association Results from the European Thoracic Oncology Platform Lungscape Project 
E.J. Speel


ST47LB. Evaluation of a Promising Molecular Biomarker (CRTC1-MAML2 Rearrangement) Towards Improved Management in Mucoepidermoid Carcinoma (Head & Neck and Thoracic) – Initial Tertiary Care Hospital Experience 
A. Chaturvedi


ST48LB. Multi-site Reproducibility and Analytic Accuracy of the HTG EdgeSeq Immuno-oncology Assay
R. Chesser


TT01. Rapid and Cost-effective Custom Oncology Panels for NEBNext Direct Target Enrichment from Modular, Predesigned Genes 
C. Hendrickson

TT02. Comprehensive Detection of all Major Classes of MET Deregulation by Anchored Multiplex PCR and Next-generation Sequencing 
B.A. Kudlow

TT03. Rapid and Comprehensive Detection of CFTR Variants across Ethnic Groups Using Anchored Multiplex PCR and Next-generation Sequencing 
M.T. Hardison

TT04. Anchored Multiplex PCR Enables Sensitive and Specific Detection of Variants in Circulating Tumor DNA by Next-generation Sequencing 
J.E. Lee

TT05. Characterization of Hematologic Malignancies with Anchored Multiplex PCR and Next-generation Sequencing 
J. Haimes

TT06.  B- and T-cell Immune Repertoire Characterization by Anchored Multiplex PCR and Next-generation Sequencing
J. Eberlein

TT07. A Targeted Resequencing Approach to Identify Actionable Somatic Copy Number Alterations with High Sensitivity alongside SNVs and Indels from Clinical Tumor Specimens 
F. De La Vega

TT08. Detection of Hotspot Cancer Mutations in a Clinical Laboratory Using Next Generation Sequencing on the Ion Torrent PGM 
R. Shahsiah

TT09. Implementation of a Comprehensive NGS Workflow as an Integrated Solution for Clinical Cancer Diagnosis 
S. Lupo

TT10. A Full Process Control for setting up an NGS Operation Using the GeneReader System 
A. Darwanto

TT11. Comparison of Custom Designed Gene Panels for Hybrid Capture-based Parallel Sequencing in Molecular Pathology Routine Diagnostics 
C. Heydt

TT12. Liquid Biopsy: EGFR Mutation Testing Using Cell-free DNA and the GeneReader Workflow in a Cohort of Patients with Advanced EGFR-mutant NSCLC 
J. Seitz


TT13. Multi Institutional Evaluation of a High Sensitive NGS Assay for Liquid Biopsy Mutation Detection in Lung Cancer 
C. Vollbrecht

TT14. EGFR Mutation Analysis in ct-DNA from NSCLC Patients
A. Saetta

TT15. Crude Lysates from FFPE Tissues are Well Suited for Copy Number Analysis by a Novel Digital MLPA Assay 
L. Atanesyan

TT16. Molecular Analysis of Circulating Free DNA (cfDNA) from Lung Cancer Patients in Routine Laboratory Practice: A Cross-platform Comparison of Three Different Molecular Methods for Mutation Detection
S. Bartels

TT17. Analysis of SHOX2 / PTGER4 DNA Methylation for Lung Cancer Detection in Liquid Biopsies is Robust against Specific Variations in Blood Collection, Transport, and Storage Conditions 
O. Hasinger

TT18. Mass Spectrometric Imaging for the Molecular Analysis of FFPE Tumor Sections 
S.O. Deininger

TT19. Application of the GeneReader NGS System in Clinical Testing of Tumor Samples 
P. Zhang

TT20. Analysis of Clinical Relevant Mutations by the Novel Gene Reader NGS System 
U. Koitzsch

TT21. Novel rhPCR Assays for Sensitive and Accurate Detection of Germline SNPs and Somatic Mutations 
C. Chen

TT22. Development of a Breast and Lung Cancer Research Panel to Target Therapeutically Relevant Copy Number and Gene Fusion Variants from Blood 
J.J. Schageman