45th American Cytogenomics Conference Snowbird, UT June 10-13, 2018
(full program, including presentation assignments, to be published in the May issue of Cancer Genetics)

Sunday, June 10

2-7 PM Conference registration Foyer outside Ballrooms 1-3
12-4 PMExhibitor registration
Exhibitor and poster set-up (exhibits to be open during breakfasts and breaks, Monday and Tuesday)
Ballroom 1 (exhibitors) and ballroom lobby (posters)
5-7 PM Opening receptionBallroom 1

Monday, June 11

7:00-8:00 AMContinental breakfast (all posters and exhibits available for viewing)Ballroom 1
8:00-8:15 AMWelcome and announcements
Sarah South – ACC President and 2018 Conference Chair
Art Brothman – 2018 Program Chair
Ballrooms 2 & 3
8:15-10:15 AMScientific Session: Constitutional Cytogenetics 1Ballrooms 2 & 3
Moderators: Jennifer Laffin and Xinjie Xu
8:15-8:30 AM1. Detection of mosaicism and chimerism using SNP arrays in pediatric clinical testing: 10 year experienceLaura K. Conlin, Brooke Weckselblatt, Jinbo Fan, Elaine Zackai, Matthew C. Dulik, Nancy B. Spinner, Minjie Luo
8:30-8:45 AM2. Two patients demonstrating the rare phenomenon of rod/ring mosaicismNatasha T. Strande, Melissa A. Hayden, Alexis F. Poss, Christie M. Turcott, Arti Pandya, Arthur S. Aylsworth, Kathleen W. Rao, Kathleen Kaiser-Rogers
8:45-9:00 AM3. Unusual case of mosaic Robertsonian Down syndrome with three cell lines and review of history of Robertsonian translocations at Greenwood Genetic CenterBarbara DuPont, Frank Bartel, Alka Chaubey
9:00-9:15 AM4. Non-invasive prenatal screening: understanding the underlying mechanisms for discordanceRupa Udani, Kim Oxendine, Jennifer Laffin, Vanessa Horner
9:15-10:15 AMInvited Speaker: Mario Capecchi (introduction by Reha Toydemir)Modeling synovial sarcoma from initiation through metastasis
10:15-10:45 AMMorning break
(all posters and exhibits available for viewing)
Ballroom 1 and ballroom lobby
10:45-12:30 PMScientific Session: Cancer Cytogenetics 1Ballrooms 2 & 3
Moderators: Jackie Biegel and Bo Hong
10:45-11:00 AM6. An algorithm to maximize detection of double/triple hit diffuse large B-cell lymphomas while reducing workload for the cytogenetic laboratoryHana Aviv, Ivana Maxwell, Lauri Goodell, James Van Gurp
11:00-11:15 AM7. Clinical implications of cytogenetic heterogeneities in BCR-ABL1 fusion positive adult B cell acute lymphoblastic leukemiaXinyan Lu
11:15-11:30 AM8. An evidence-based approach to guide IGH-based reflex testing for plasma cell neoplasmsJodi Zockle, Brandon Chandler, Karen Delgado, Denise Quigley, Reha Toydemir, Erica Andersen
11:30-11:45 AM9. Detection of fusion genes from complex rearrangements reported by genome-wide mate-pair sequencing (MPseq)Sarah H Johnson
11:45-12:00 PM10. Improved detection of karyotype abnormalities in mature B-cell neoplasms through the utilization of CpG-oligonucleoties and interleukin-2 for B-lymphocyte stimulationAngela M Lager, Sara Morrison-Delap, Randee Blumer, Maureen Sullivan, Lisa Leverton, Eric Johnson, Vanessa L Horner
12:00-12:30 PM11. Genome level vendor presentation (Thermo-Fisher) Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencingKristina Cusmano-Ozog, MD, Medical Geneticist, Children’s National Medical Center
12:30-1:45 PMLunch (box lunches to be provided to all registrants)
12:30-1:30 PMConcurrent vendor presentationsPrimrose rooms A/B
12:30-12:45 PM54. Utilizing clinical whole genome sequencing to identify balanced translocation carriers in the parents of children with derivative chromosomes.
R. Tanner Hagelstrom, Andrew Gross, Marilyn Jones, Diane Masser-Frye, Alicia Scocchia, Kristen Bluske, Alka Malhotra, Denise L. Perry, David R. Bentley, Ryan J. Taft (Illumina)
Primrose room A
12:45-1:00 PM55. Copy number variants in clinical whole genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Andrew M Gross (Illumina)
Primrose room A
1:00-1:30 PM56. Flexible Automation Workflows for Maxwell® Nucleic Acid Extraction and Downstream Sample.
Luke Roenneburg (Promega)
Primrose rooms A
12:30-1:00 PM57. Automating chromosome and FISH slide preparation and processing in the clinical cytogenetics laboratory.
James E. Stanchfield, Founder and President, SciGene
Primrose room B
1:45-3:35 PMScientific Session: Next Generation CytogenomicsBallrooms 2 & 3
Moderators: Hussam Al-Kateb and Hutton Kearney
1:45-2:00 PM16. The evolutionary conserved developmental regulome define high risk regions for long range position effects (via teleconference)Mana M Mehrjouy, Mads Bak, Peter Jacky, Niels Tommerup
2:00-2:15 PMBrief introduction to NGS and mate pair sequencing by the moderators
2:15-2:30 PM12. Mate pair sequencing: unveiling underappreciated complexity and providing clarity to the previously unanswered questions of cytogeneticsNicole Hoppman, Stephanie Smoley, Beth Pitel, Joe Blommel, Sarah Koon, Matt Webley, Elyse Mitchell, Anna Essendrup, Cinthya Zepeda Mendoza, Sarah Johnson, George Vasmatzis, Linda Baughn, Patricia Greipp, Robert Jenkins, Hutton Kearney, Rhett Ketterling, Ross Rowsey, Bill Sukov, Erik Thorland
2:30-2:45 PM13. Clinical utility of mate pair sequencing to detect diagnostic and prognostic chromosomal rearrangements and copy number changes in patients with acute myeloid leukemiaLinda B. Baughn, Stephanie A. Smoley, Umut Aypar, Beth A. Pitel, George Vasmatzis, Sarah H. Johnson, James B. Smadbeck, Jess F. Peterson, Katherine B. Geiersbach, Daniel L. Van Dyke, Erik C. Thorland, Rhett P. Ketterling, Robert B. Jenkins, Nicole L. Hoppman, Hutton M. Kearney, Patricia T. Greipp
2:45-3:00 PM14. Clinical mate-pair sequencing reveals complex genomic rearrangements in B-lymphoblastic leukemia/lymphoma (B-ALL)Cinthya J Zepeda Mendoza*, Stephanie A. Smoley, Sarah H. Johnson, Linda B. Baughn, Patricia T. Greipp, George Vasmatzis, Nicole L. Hoppman, Rhett P. Ketterling
*Student award recipient
3:00-3:15 PM15. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing dataAlka Chaubey, C. Alexander Valencia, Zeqiang Ma, Gerard Irzyk, Edward Szekeres Jr., Zdenek Markovic, Yang Wang, Alice Tanner, Christin Collins, Madhuri Hegde
3:15-3:35 PMWrap-up and discussion of NGS
3:35-4:05 PMAfternoon break (all posters and exhibits available for viewing)Ballroom 1 and ballroom lobby
4:05-5:20 PMScientific Session: Cancer Cytogenetics 2Ballrooms 2 & 3
Moderators: Jennifer Sanmann and Nyla Heerema
4:05-4:20 PM17. CytoGPS: A novel bioinformatics approach for high-throughput karyotype analysisZachary B. Abrams*, Elvin Chu, Laura Z. Rassenti, Thomas J. Kipps, Daniel L. Van Dyke, Kevin Coombes, Lynne V. Abruzzo, Philip R.O. Payne, Nyla A. Heerema, Adrian Dubuc, Paola Dal Cin
*Student award recipient
4:20-4:35 PM18. Identification of a cryptic PAX7-FOXO1 rearrangement and characterization of subsequent amplification using genomic microarray in a case of alveolar rhabdomyosarcomaBenjamin Hilton, Bo Hong, David Scharnhorst, Maria Longhurst, Kathryn O'Brien, Suying Xu
4:35-4:50 PM19. Targeted FISH in multiple myeloma - experiences with different plasma cell enrichment techniqueLeena Gole, Constance Chua, Yvoonne Tan, Shirley Chan, Teck Guan Soh, Lip Kun Tan, Wee Joo Chng, Xiaoli Sun
4:50-5:05 PM20. Two cases of acute myelogenous leukemia with positive FLT3- internal tandem duplication (ITD): Follow up and enrollment in clinical trials Matthew Tedder, Alka Chaubey, Brittany Hennigan, Ravindra B Kolhe
5:05-5:20 PM21. Clinical Utility of Comprehensive Genomic Profiling in Pediatric Acute LeukemiasGordana Raca, Jianling Ji, Matthew Oberley, Deepa Bhojwani, Jaclyn Biegel, Matthew Hiemenz
7 PMDistinguished Cytogeneticist dinner (recipient: Dr. Stuart Schwartz)Aerie Restaurant, 10th Floor, Snowbird Cliff Lodge

Tuesday, June 12

7:00-8:00 AMContinental breakfast (all posters and exhibits available for viewing)Ballroom 1 and ballroom lobby
8:00-10:15 AMScientific Session: Cancer Cytogenetics 3Ballrooms 2 & 3
Moderators: Cate Paschal and Reha Toydemir
8:00-8:15 AM22. Detection and characterization of disease-defining gene fusions in Bone and Soft Tissue Neoplasms by RNA-SeqYajuan Liu
8:15-8:30 AM23. Prevalence of KANK1-NTRK3 fusion in renal metanephric adenomas that lack BRAF mutationsAida Catic*, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan, Michael R Pins
*Student award recipient
8:30-8:45 AM24. Abbott Vysis IntelliFISH hybridization buffer evaluation on hematological specimensCecelia R. Miller, Jadwiga Labanowska, Carly Tiefenthaeler, Kathleen Messaro, Herbert A. Marble, Nyla A. Heerema, Lynne V. Abruzzo
8:45-9:00 AM25. Unexpected favorable outcome in a patient with high grade B-cell lymphoma with abnormalities of MYC, BCL6 and BCL2Hussam Al-Kateb ,Thomas Adams, Deborah Fuchs, Patricia K Shadoan, Laurel Johnstone, Branden M Lau, Lee McGhan, Faiz Anwer
9:00-9:15 AM26. Correlation between bone marrow morphology, conventional cytogenetics and FISH in myelodysplastic syndrome: The Legacy Health experienceNisha Mathew, Jacob Smith, Emma Weirich, Donna Blackwell, and Yassmine Akkari
9:15-10:15 AMInvited Speaker: James Armitage (introduction by Jennifer Sanmann)Treating patients with lymphoma as a paradigm for “personalized medicine”
10:15-10:45 AMMorning break
(all exhibits available for viewing)
Ballroom 1 and ballroom lobby
10:45-12:00 PMScientific Session: Constitutional Cytogenetics 2Ballrooms 2 & 3
Moderators: Ross Rowsey and Denise Quigley
10:45-11:00 AM28. Dosage sensitivity curation of recurrent copy number variant regionsErica Andersen*, Rachel Burnside*, Bradley Coe, Laura Conlin, John Herriges, Ted Higginbotham, Benjamin Hilton, Vaidehi Jobanputra, Hutton Kearney, Karen Ouyang, Prabakaran Paulraj, Erin Rooney Riggs, Ross Rowsey, Marsha Speevak, Erik Thorland, Lei Zhang, Christa Lese Martin, on behalf of the Clinical Genome Resource (ClinGen) (*Equal contribution)
11:00-11:15 AM29. Development and validation of 15-minute FISH hybridization technology for interphase and metaphase cytogenetic samplesRamesh Babu, Daniel L. Van Dyke, Stephen L. Papa, Ernesto Fuentes, Sarah Fuentes, Srikanthi Kopuri, Cynthia Williamson, Mingya Liu, Vaithilingam G. Dev, Jim Tepperberg, Stuart Schwartz, Peter Papenhausen, Prasad Koduru
11:15-11:30 AM30. Dynamic mosaicism of ring chromosomes as characterized by multiple cytogenetic methods: a ring 13 and ring 21 with discordant results between microarray, karyotype, and FISHT. Niroshi Senaratne, Sung-Hae L. Kang
11:30-11:45 AM31. Assessing telomere length and chromosome aberrations in twin and unrelated astronautsSusan M. Bailey, Miles J. McKenna, Lynn Taylor, Kerry A. George
11:45-12:00 PM32. Jumping genes in frogs; cytogenetic evidence that additional ribosomal gene locations in Hyla chrysoscelis (Cope’s Gray Treefrog) are associated with mobile genetic elementsJohn Wiley
12:00 PMAdjourn for optional afternoon activities
6:00-10:30 PMBuffet dinner and dancingSummit Restaurant (plan ~15 min tram-ride to Summit Peak from Snowbird Center)

Wednesday, June 13

7:30-8:30 AMContinental breakfast (all posters and exhibits available for viewing)Ballroom 1 and ballroom lobby
8:30-10:15 AMScientific Session: Constitutional Cytogenetics 3Ballrooms 2 & 3
Moderators: Ankita Patel and John Wiley
8:30-8:45 AM33. SNP microarray autozygosity-directed mutation assessment of children and families with heritable retinal dystrophies in Costa Rica; identification of autosomal recessive mutations and one copy number variantDaynna J. Wolff, Iya Znoyko, W. Bailey Glen, Joaquin Martinez Arguedas, Rames Badilla Porras, Mae Millicent Peterseim
8:45-9:00 AM34. Meiotic recombination and chromosomal defects in hybrid beefalo and ruminant livestock spermatocytesBrenda M. Murdoch
9:00-9:15 AM35. Runs of homozygosity (ROH) reveal that segmental-UPD is associated with the repair of genomic imbalanceAndrea Penton, Peter Papenhausen, Stuart Schwartz, James Tepperberg
9:15-9:30 AM36. Identification and characterization of complete and partial MEF2C gene deletions in 3 individuals with developmental delay by whole genome microarray analysisFrank Bartel, Timothy Fee, Barbara DuPont
9:30-9:45 AM37. Microdeletions including the RYR2 gene are not associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) in four unrelated familiesMatthew Thomas, George McDaniel, Kaitlyn Amos, Eli Williams
9:45-10:00 AM38. Clinical cytogenetics training in a genomics world - adapting to the laboratory genetics and genomics paradigmRuthann Pfau,Yassmine Akkari
10:00-10:15 AM39. Lessons learned from supplementary testing in constitutional and hematologic casesTeresa A. Smolarek, Kristen Sund, Nicki Smith, Deema Aljeaid, Priscila Badia Alonso, Brenton Francisco, Pamela Long, Jeremy Rubinstein, Robert Lorsbach, John Perentesis, Christine Phillips, K. Nicole Weaver, Lisa Dyer
10:15-10:45 AMMorning breakBallroom 1
10:45-11:45 AMInvited Speaker: Terry Hassold (introduction by Ross Rowsey)Aneuploidy in humans: new insights into an age-old problem
11:45-12:15 PMACC Business Meeting
Award Recognition
ACC 2020: Barbara DuPont
Ballrooms 2 & 3
12:15 PMAdjourn