Grove park

43rd American Cytogenetics Conference

Grove Park Inn  Asheville, NC     May 4-7, 2014


2014 Scientific Program

Sunday, May 4, 2014

2:00 – 7:00 pm                   Conference Registration – Grand Ballroom Foyer

4:00 – 7:00 pm                   Exhibitor Registration – Grand Ballroom Foyer

Exhibit Setup – Grand Ballroom C

Poster Setup – Grand Ballroom C

5:30 – 7:30 pm                   Opening Reception – Vanderbilt Terrace – Supported by Affymetrix, Inc.


Monday, May 5, 2014

7:00 – 8:00 am                   Breakfast Symposium – Grand Ballroom A&B: Clinical Application of CNV and NGS interpretation & reporting pipelines. – Supported by Cartagenia

Analysis, Interpretation and Reporting of CNV and NGS data. Alka Chaubey

The Cartagenia Bench platform: confidently store, interpret, report and share genomic variants. Steven Van Vooren

7:00 – 10:00 am                 Poster Setup – Grand Ballroom C

7:00 am – 5:30 pm            Conference Registration – Grand Ballroom Foyer

9:00 am – 5:30 pm            Exhibits Open – Grand Ballroom C

Please visit the booths during session breaks, lunch breaks, and poster sessions.

4:00 – 5:30 pm                   Poster Session – Grand Ballroom C

All Scientific Sessions will take place in Grand Ballroom A&B


8:10 – 8:20 am                   Welcome and Announcements Hutton Kearney – ACC President and 2014 Conference Chair Catherine Rehder – 2014 Program Chair


Scientific Session 1:         Constitutional Cytogenetics

Moderators: Jennifer Laffin and Natalia Leach

8:20 – 8:40 am                   1 Sequencing Constitutional Translocation Junctions Reveals Gene Fusions and Chromothripsis. M.K. Rudd, K.E. Hermetz, B. Weckselblatt

8:40 – 9:00 am                   2 Saturation of the Human Genome with Chromosomal Breakpoints. M.B. Rasmussen, C.L. Schlechter, M.M. Mehrjouy, I. Bache, A. Lind-Thomsen, A. Silahtaroglu, C. Hansen, S. Kjaergaard, K. Brøndum-Nielsen, P.K.A. Jensen, C. Fagerberg, L.N. Krogh, J. Hansen, A.C. dos Santos Fonseca, A.M.V. Morgante, K.T. Abe, C. Halgren, M. Bak, P. Jacky, N. Tommerup

9:00 – 9:20 am                   3 Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Gen Cytogenetic Nomenclature. Z. Ordulu*, K.E. Wong, B.B. Currall, A.R. Ivanov, S. Pereira, S. Althari, J.F. Gusella, M.E. Talkowski, C.C. Morton *Student presenter – Award winner

9:20 – 9:40 am                   4 Detecting Copy Number Variation from Whole Genome Sequencing Data. V. Jobanputra, R. Klein, O. Nahum, S.Yang, D. Ballinger, E. Beilharz, B. Levy

9:40 – 10:00 am 5 De novo CNVs Identified Using High Resolution SNP Array on Patients with Intellectual Disability. B.R. DuPont, K.E. Bruce, F.O. Bartel, A. Chaubey

10:00 – 10:30 am               Morning Break – Grand Ballroom C  View Posters and Exhibits


Scientific Session 2:         Cancer Cytogenetics

Moderators: Julie Biggerstaff and Sheila Dobin

10:30 – 10:50 am               6 Utility of Single Nucleotide Polymorphism Arrays for Patients with Bone Marrow Failure. J.J. Roth*, D.V. Babushok, N. Perdigones, T.S. Olson, H.D. Hartung, J.D. Cockroft, S. Pamu, T.S. Grou, M.E. Paessler, P.J. Mason, M. Bessler, D.M. Wilmoth, J.A. Biegel  *Student presenter

10:50 – 11:10 am               7 Genetic Heterogeneity of Multi-Hit B-Cell Lymphomas: Report of 19 Cases. M. Serrano*, M. Sederberg, B. Hong, S. South, R. Toydemir  *Student presenter

11:10 – 11:30 am               8 Evaluation of the Clinical Implementation of the 2013 CAP/ASCO HER2 FISH Testing Guidelines. S.-H.L. Kang, T.J. Lillemoe, E.V. Grimm, B. Susnik, K.K. Swenson, M.L. Tsai

11:30 –11:50 am                9 The New ASCO/CAP HER2 Guidelines Double the Number of Breast Cancer Patients Eligible for HER2-Targeted Therapy. A.E. Wiktor, R.G. Meyer, M.V. Shah, R.B. Jenkins

11:50 – 12:00 pm              HER2 Guideline Additional Discussion Time

12:00 – 1:30 pm Trainee Luncheon* – Eisenhower FG  *Requires advanced registration

-OR- Lunch on your own – Exhibitor area is open to all attendees during the lunch break


Scientific Session 3:         Constitutional Cytogenetics

Moderators: Nicole Hoppman and John Wiley

1:30 – 1:50 pm                  10 Simulation of False Positive and False Negative Rates from NIPS Using Discrepant Cytogenetic Results Between Direct Preparations and Long Term Cultures Obtained from Chorionic Villi Sampling. N. Mathew, H. Dorsey, Y. Akkari

1:50 – 2:10 pm                   11 Accuracy of Non-Invasive Prenatal Screening for Trisomies 13, 18 and 21 and Sex Chromosome Aneuploidy. A.M. Cherry, J.M. Williams, Jr., M.A. Manning

2:10 – 2:30 pm                   12 Non-Invasive Prenatal Screening from Viewpoint of the Cytogenetics Laboratory. J.M. Meck, D.E. Kramer, A. Aviram, C. Trunca, D. Riethmaier, A.D. Pineda, S. Aradhya, G. Richard, A. Gomez, L. Shulman, R. Klein, L. Matyakhina

2:30 – 2:50 pm                   13 Discordant Karyotypes Among Positive NIPT Highlights the Importance of Invasive Confirmatory Testing. A. Patel, N. Cvjetkovic, L. Fosler, I. Van den Veyver, S. Peacock, A. Breman, J. Smith

3:00 – 4:00 pm                   14 The Philadelphia Chromosome: From Bench to Bookshelf  Invited Speaker: Jessica Wapner, author of The Philadelphia Chromosome: A Mutant Gene and the Quest to Cure Cancer at the Genetic Level, introduced by Daynna Wolff

4:00 – 5:30 pm                   Poster Session and Exhibits – Grand Ballroom C

4:00 – 4:45 pm Authors present: Odd numbered posters

4:45 – 5:30 pm Authors present: Even numbered posters


Distinguished Cytogeneticist Award Dinner – Grand Ballroom A&B

6:30 – 10:00 pm ACC 2014 Distinguished Cytogeneticist Award Dinner  Award Recipient: Dr. Dorothy Warburton

6:30 – 7:00 pm                   Meet & Mingle (cash bar)

7:00 – 8:30 pm                   Dinner

8:30 – 10:00 pm Award Presentation and Remarks

10:00 pm                              Session Closing


Tuesday, May 6, 2014

7:00 – 8:00 am                   Breakfast Symposium – Grand Ballroom A&B – Supported by Agilent

Vignettes from 10 years of Chromosomal Microarray Analysis. Ankita Patel

Agilent’s Next Gen FISH Technology Overview. Jimmy Jin

7:00 – 12:00 pm Conference Registration – Grand Ballroom Foyer

9:00 am – 10:30 am          Exhibits Open – Grand Ballroom C

Please visit the booths, especially during session breaks, lunch breaks, and the poster session.


Scientific Session 4:         Cancer Cytogenetics

Moderators: Michelle Dolan and Sarah Horn

8:00 – 8:20 am                   15 Improving Detection of Cytogenetic Abnormalities in CLL Using DSP30-IL2-TPA. P. Holmes, S.C. Peiper, J.Z. Gong, Z.-X. Wang, R. Bajaj

8:20 – 8:40 am                   16 CpG-Oligonucleotide Stimulation of Chronic Lymphocytic Leukemia (CLL) Cells Improves Detection of Chromosome Abnormalities by Conventional Karyotyping. L.J.R. Sundin, D.L. Van Dyke

8:40 – 9:00 am                   17 Fluorescence in situ Hybridization (FISH) Aberrations and Complex Karyotype in Chronic Lymphocytic Leukemia (CLL). N.A. Heerema, N. Muthusamy, A.S. Ruppert, L.A. Andritsos, M.R. Grever, J.A. Jones, H. Breidenbach, K. J. Maddocks, J.C. Byrd

9:00 – 9:20 am                   18 Chromosomal Alterations/Genomic Imbalances in Chronic Lymphocytic leukemia (CLL) Using Array Comparative Genomic Hybridization (aCGH) and Comparison with Interphase Fluorescence in situ Hybridization (FISH). A. Lal*, A.M. Cherry  *Student presenter

9:20 – 9:40 am                   19 Chromosome-Specific Telomere Lengths in Women with Breast Cancer: Their Relationship to Chemotherapy and Acquired Psychoneurological Symptoms. A. Alhareeri*, D. Lyon, R. K. Elswick, Jr., D.L. Kelly, C. Jackson-Cook  *Student presenter

9:40 – 10:00 am                 20 A Reference Database of Cytogenetic Abnormalities Associated with Immuno- and Chemotherapeutics and Current Clinical Trials: Curation and Retrospective Data Analysis. K. Crooks*, K. Rao *Student presenter – Award winner

10:00 – 10:30 am               Morning Break – Grand Ballroom C

Last chance to view posters and talk with exhibitors!


Scientific Session 5:         Mixed Cytogenetic Topics

Moderators: Anne Higgins and Jennifer Winters

10:30 – 10:50 am               21 Development of a Full Service Genetics Lab. D.I. Quigley, O.A. Lamb, J.Z. Liu

10:50 – 11:10 am               22 Interphase Chromosome Profiling (ICP): Development and Validation of a Novel Technology and Its Clinical Applications. V.R. Babu, V.G. Dev, P. Koduru, N. Rao, M. Liu, E. Fuentes, S. Fuentes, S. Papa, D.L. Van Dyke

11:10 – 11:30 am               23 Cytogenetic Evidence for Multiple Origins of the Tetraploid Gray Treefrog, Hyla versicolor. J.E. Wiley

11:30 – 12:30 pm              24 Comparative Cytogenomics – A Translational Approach to Accelerate Cancer Gene Discovery Invited Speaker: Matthew Breen, PhD, Professor of Genomics, Department of Molecular Biomedical Sciences North Carolina State University, Raleigh, NC, introduced by Jim Tepperberg

Afternoon on your own – please enjoy Asheville!

12:45 pm                              Departure for optional activities*

Box lunches will be distributed at transportation boarding sites to those participating in the optional group activities. *Requires advance registration

6:30 – 11:00 pm Carolina Mountain Buffet and Entertainment – Grand Ballroom A&B


Wednesday, May 7, 2014

7:00 – 8:00 am                   Breakfast Symposium– Grand Ballroom A&B – Supported by Illumina

8:00 – 8:20 am                   ACC Business Meeting 2016 ACC Meeting Announcement – Grand Ballroom A&B with  Student Award Presentations

8:20 – 9:20 am                   25 Using Chromosome Engineering to Study Centromere Identity and Chromosome Function Invited Speaker: Beth Sullivan, PhD, Associate Professor, Department of Molecular Genetics and Microbiology, Division of Human Genetics, Duke University Medical Center, Durham, NC, introduced by Stuart Schwartz


Scientific Session 6:         Cancer Cytogenetics

Moderators: Fady Mikhail and Gordana Raca

9:20 – 9:40 am                   26 Chromosomal Microarray Analyses Reveal New Recurrent Focal Deletion of the PAX3 Gene in Uveal Melanoma. M.A. Hayden*, E. Martin, S. Bowyer, K.W. Rao  *Student presenter – Award winner

9:40 – 10:00 am                 27 Observations of the Genomic Landscape Beyond 1p19q Deletions and EGFR Amplification in Glioma. C.N. Paxton, L.R. Rowe, S.T. South

10:00 – 10:20 am               28 Does Induction of G1 Phase Arrest in Cells from Bone Marrow Specimens Improve the Quality of Their Genomic Profiles for Microarray Analysis? S. Ponnala*, A. Siddiqui, C. Jackson-Cook  *Student presenter

10:20 – 10:40 am               29 Clinical Utility of Next Generation Sequencing in Acute Myeloid Leukemia: Correlation with Cytogenetic Studies Shows Different Spectrum of Mutations. R.D. Daber, J. Zhao*, C. Solderquest, M. Carroll, S. Luger, G. Wertheim, A. Bagg, J.J.D. Morrissette  *Student presenter

10:40 – 11:00 am               30 Clonal Evolution Insight Obtained Through SNP Microarray Analysis. P.R. Papenhausen, S.Schwartz

11:00 – 11:30 pm              Morning Break – Grand Ballroom Foyer


Scientific Session 7:         Constitutional Cytogenetics

Moderators: Caroline Astbury and Ferrin Wheeler

11:30 – 11:50 am               31 Mapping Ring Chromosome 20 Breakpoints Using High Resolution Arrays and Whole Genome Sequencing. L.K. Conlin, C. Grochowski, D. McEldrew, A. M. Falsey, N.B. Spinner, R.D. Daber

11:50 – 12:10 pm              32 Cytogenetic and Clinical Characterization of Three Cases of 17p13.3 Microduplication Involving PAFAH1B (LIS1). H.G. LaBreche*, M.T. McDonald, K.L. Deak, C.W. Rehder *Student presenter

12:10 – 12:30 pm              33 Frequency and Phenotype of Patients with 1q21.1 Triplication – The Mayo Clinic Experience. C. Marcou*, N. Hoppman, E. Thorland  *Student presenter

12:30 – 12:50 pm              34 Parental Studies of >2000 Chromosomal Microarray Analysis (CMA) Postnatal Cases -Vast Majority of CNVs Containing Few Genes Were Inherited. S. W. Cheung, J. Pham, J. Denham, E. Roney, A.N. Pursley, P. Stankiewicz, A. Breman, S. Lalani, J. Smith, S. L. Kang, C. Bacino, C. Shaw. A. Patel, W. Bi

12:50 – 1:10 pm 35 Prenatal Detection of Genome-Wide Uniparental Isodisomy Mosaicism. E.S. Williams, K.M. Burns, R. LeGallo, F. Valvelidis, S. Thiagarajah, M.S. Mahadevan, W.L. Golden

1:10 – 1:30 pm                   36 Maternal Cell Contamination Assessment using SNP Microarray: How Much MCC is Too Much? D. J. Wolff, I. Znoyko

1:30 pm                                ACC 2014 Final Remarks and Adjournment