47th American Cytogenomics Conference Hilton Head Island, SC May 15-18, 2022


Sunday, May 15

11:00-4:00 PMExhibits registrationSantee Ballroom Foyer
11:00-4:00 PMExhibit set-upSantee Ballroom A-D
(exhibits to be open during opening reception, all breakfasts, and all breaks)
12:00-4:00 PMCAP Inspector Training SessionSantee Ballroom E-H
2:30-4:30 PMThermo Fisher Scientific MeetingSavannah Junior Ballroom
3:00-7:00 PMConference registrationSantee Ballroom Foyer
5:00 -7:00 PM Opening receptionExhibit Hall, Santee Ballroom A-D

Monday, May 16

7:00-8:00 AMContinental breakfastExhibit Hall, Santee Ballroom A-D
8:00-8:15 AMWelcome and announcements
Barb DuPont, 2020-2022 ACC President
Robert Best, 2022 Program Chair
Ross Rowsey, 2022 Program Vice-Chair
Santee Ballroom E-H
8:15-10:00 AMScientific Session: Cancer AbstractsModerators: Gordana Raca and Anica Wandler
8:15-8:30 AMClinical Utility of Low-Pass Whole Genome Sequencing (LP-WGS) and Targeted Panel Sequencing in Liquid Biopsies for Disease Diagnosis and Monitoring of Patients with Pediatric Solid TumorsJaclyn A Biegel, Katrina O'Halloran, Peter Chiarelli, Mark Krieger, Liya Xu, Jesse L Berry, Fariba Navid, Anya Zdanowicz, Leo Mascarenhas, James Amatruda, Dejerianne Ostrow, Moiz Bootwalla, Xiaowu Gai, Venkata Yellapantula, Eirini Christodoulou
8:30-8:45 AMAnalytical Tools to Support Detection of Homologous Recombination Deficiency (HRD) Using Cytogenomic Scar MarkersDaniel Saul, Megan Roytman, Westley Sherman, Lily Nasanovsky, Soheil Shams
8:45-9:00 AMComplex and Cryptic EWSR1-FLI1 Gene Fusions and 1q Jumping Translocation in Pediatric Ewing SarcomasYing S. Zou
9:00-10:00 AMInvited speaker – Christina Lockwood
Challenges and Emerging Opportunities for Circulating Tumor DNA Testing in Clinical Laboratories
Introduction by Catherine Rehder
10:00-10:30 AMBreak (all exhibits available for viewing)
10:30-12:00 PMScientific Session: OGM AbstractsModerators: Jackie Biegel and Tim Fee
10:30-10:45 AMComparative Benchmarking of Optical Genome Mapping to Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and additional Structural Variant RefinementAndy Wing Chun Pang, Hayk Barseghyan, Alka Chaubey, Alex Hastie
10:45-11:00 AMOptical Genome Mapping as a Potential Tier1 Test for Postnatal Chromosomal Disorders – Results of Multi-Institutional Validation Study of 331 Retrospective Clinical SamplesM. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe
11:00-11:15 AMOptical GENOME MAPPING for Prenatal Diagnostic TestingNikhil Sahajpal*, Ashis K Mondal, Timothy Fee, Alex Hastie, Alka Chaubey, Barbara R DuPont, Ravindra Kolhe
*Student award recipient
11:15-11:30 AMOptical Genome Mapping Analysis of FMR1 Expansions in Fragile X SyndromeHayk Barseghyan, Martin Muggli, Bahar Ramandi, Neil Miller, Dong Zhang, Ernest T Lam, Jian Wang, Tom Wang, Joyce Lee, Andy WC Pang, Henry B Sadowski, Alex R Hastie, Mark Oldakowski
11:30-11:45 AMOptical Genome Mapping Workflow for Identification and Annotation of Variants in Hematological MalignancyBenjamin Clifford, Jen Hauenstain, Andy Wing Chun Pang, Alka Chaubey, Alex R. Hastie
11:45-12:00 PMCapture-Based Transcriptome Sequencing (RNA-Seq) and Optical Genome Mapping (OGM) Enhance Detection of Newly Described Molecular Subtypes of Pediatric B-lymphoblastic Leukemia (B-ALL)Gordana Raca, Alexandra E. Kovach, Andrew Doan, Dejerianne Ostrow, Venkata Yellapantula, Jianling Ji, Ryan Schmidt, Jaclyn A. Biegel, Deepa Bhojwani
12:00-12:30 PMGenome level vendor presentation - Bionano: Finding More Answers: Integrating NGS and OGM for a Comprehensive Analysis of the Genome, Alex HastieSantee Ballroom E-H
12:30-1:45 PMLunch and concurrent Chromosome level vendor presentations
12:45-1:05 PMChromosome level vendor presentation - Illumina: GDA-Cyto: Infinium Arrays Propel Cytogenomics Laboratories to New Heights, Jackie HaganSantee Ballroom E-H
1:10-1:30 PMChromosome level vendor presentation - Metasystems: Intelligent Karyotyping, Yassmine AkkariSantee Ballroom E-H
12:45-1:05 PM Chromosome level vendor presentation - PerkinElmer Genomics: The Power of Uniform Coverage by Genome Sequencing – Why genome sequencing is superior for Copy Number Variant Detection, Fen GuoSavannah Junior Ballroom
1:10-1:30 PMChromosome level vendor presentation - Oxford Gene Technology: Technical and Practical Considerations of validating an NGS Panel for CLL as an LDT, Graeme Quest and Peter SabatiniSavannah Junior Ballroom
1:45-2:45 PMTalkowski-Tommerup Joint Abstracts
• Structural Variation Discovery and Interpretation in the Era of Cytogenomics
• The Landscape of Structural Variation Discovery and Interpretation Across Global Populations and the Developmental Continuum
• Remember Breakpoint Two: Enhancer Swapping, A Frequent Deleterious Consequence of Balanced Chromosomal Rearrangements
Introduction by Peter Jacky
2:45-3:15 PMScientific Session: Congenital CasesModerators: Colleen Jackson-Cook and Theresa Brown
2:45-3:00 PMFour-way Translocation in a Patient with Mild ClitoromegalyVirginia Thurston, Barbara DuPont, Laurie Demmer, Holli Drendel
3:00-3:15 PMClinical Validation of Non-Invasive Prenatal Screening Using Synthetic PlasmasZhongxia Qi, Jingwei Yu
3:15-3:45 PMBreak (all exhibits available for viewing)
3:45-5:15 PMScientific Session: Congenital AbstractsModerators: Ben Hilton and Cherisse Marcou
3:45-4:00 PMUniparental Disomy (UPD) of Multiple Chromosomes in Two Cases with a Complex PhenotypeKatarzyna Polonis, Jaime L. Lopes, Huong Cabral, Linda Hasadsri, Ross A. Rowsey, Nicole L. Hoppman
4:00-4:15 PMChromosome 2p Duplication-Associated Mechanisms and Clinical PresentationsXiaolan Fang, Benjamin Hilton, Barbara DuPont
4:15-4:30 PMTrisomy 18p Detected in DNA From Saliva But Absent in DNA From BloodTimothy Fee, Michael Lyons, Benjamin Hilton, Barbara DuPont
4:30-4:45 PMPhase Determination and Demonstration of Parental Mosaicism of Intragenic PRKN Deletions Initially Identified by Chromosomal Microarray AnalysisLauren A. Choate*, Francis Hoffman, Jessica Newman, Cassandra Runke, Matthew Webley, Nicole Hoppman, Erik Thorland
*Student award recipient
4:45-5:00 PMPaternal UPD14 and sSMC Derived from Chromosome 14: A Case ReportJiyong Wang, Angie Lichty, Jill Johnson, Chandler Couick, Mary Alice Moore, Beth Christensen, Khirston Howard, Jennifer A. Lee, Barbara DuPont, Lola B. Clarkson, Benjamin A. Hilton
5:00-5:15 PMA Case of Supernumerary Ring Chromosome 20 Involving the Gene ASXL1 Resulting in Brain AbnormalitiesBenjamin Hilton, Barbara DuPont, Kameryn Butler
5:15 PMWrap up, bingo prize, announcements about award dinnerBob Best and Barb DuPont
5:15-6:30 PMPre-dinner break
6:30-7:00 PMReceptionSantee Ballroom Foyer
7:00 PMDistinguished Cytogeneticist Dinner: Recipient - Cynthia Casson MortonSantee Ballroom E-H

Tuesday, May 17

7:00-8:00 AMContinental breakfastSantee Ballroom A-D
Bob Best
8:00-10:15 AMScientific Session: Cancer AbstractsModerators: Angela Lager and Hossein Hosseini
8:00-8:15 AMReducing Diagnostic FISH Turn-Around-Time: A Rapid Pipeline for BCR::ABL1 and PML::RARA Suspected LeukemiasAngela M Lager, Nifang Niu, Rachel Sears
8:15-8:30 AMClinical and Diagnostic Challenges of Atypical Findings during Fluorescence in situ Hybridization (FISH) Testing: CBFB break-apart FISH as an exampleZhenya Tang, Gokce A Toruner, Guilin Tang
8:30-8:45 AMDonor-Derived Acute Myeloid Leukemia in a Recipient of Liver-TransplantationLori Koslosky, Taylor Zak, Medina Sukhanova, Yasmin Abaza, Jessica Altman, Alok Pant, Xinyan Lu
8:45-9:00 AMNovel Translocation t(5;19)(q35;p13.3) in a Patient with T-Cell Large Granular Lymphocytic Leukemia: Report of a Rare CaseHossein Hosseini, Hinesh K Patel, Aleyamma Thomas, Masayo Niwa-Habibi, Grace Charcos, Lynne Karp, Nayyara Mahmood, Jeffery Tefft, Ahmed Bendari, Judith P Brody, Anu G Chandok, Ninette Cohen, Ram Singh
9:00-9:15 AMAn ATIC::ALK fusion Created by Balanced Insertion Rather than Inversion of Chromosome 2 in an ALK+ Anaplastic Large Cell LymphomaChen Yang, Amer Heider, Noah Brown, Bryan Betz, Lina Shao
9:15-9:30 AMDeregulation and Shattering of Chromosomal Segments Containing Multiple Oncogenic Targets in the Pathogenesis of Diffuse large B cell Lymphoma (DLBCL)Ashwini Yenamandra, Amibeth Gardner, Yingda Wang, Debra Friedman, Emily Mason
9:30-10:00 AMGenome Vendor: Thermo Fisher Scientific - Detection of Sex Chromosomal Abnormalities Using SNP-arraySibel Kantarci, Quest Diagnostics, introduction by Yassmine Akkari and Brynn Levy
10:00-10:10 AM ACC Service award presentation
Recipient: Debra Saxe
Presented by Jackie Biegel and Art Brothman (by video)
10:10-10:30 AMBreak (all exhibits available for viewing)
10:30-11:30 PMInvited Speaker - Jeanne Lawrence
Trisomy 21 Silencing in Hematopoietic and Neural Cells: New Insights and Prospects
Introduction by Anne Higgins
11:30-12:00 PMScientific Session: Methylation AbstractsModerators: Gail Wenger and Matt Tedder
11:30-11:45 AMIncreased Micronuclei Frequency and DNA Methylation Patterns Associated with Down Syndrome Regression DisorderKelly A. Rafferty*, Dana Lapato, Kristi Turner, Brian G. Skotko, Amy Torres, Stephanie L. Santoro, Nicolas Oreskovic, Kelsey Haugen, Kavita Krell, Ruth Brown, Colleen Jackson-Cook
*Student award recipient
11:45-12:00 PMThe Application of DNA Methylation Epi-signatures to Resolve Variants of Uncertain Clinical SignificanceMatthew L. Tedder, Barbara R. DuPont, Jennifer A. Lee, Raymond J. Louie, Jennifer Kerkhof, Bekim Sadikovic, Michael J. Friez
12:00 PMWrap up, bingo prize, announcements about social eventsBob Best and Barb DuPont
6:00-10:00 PMBuffet dinner and dancingSonesta Oceanfront Beach Pavilion

Wednesday, May 18

7:30-8:30 AMContinental breakfastSantee Ballroom A-D
Bob Best
8:30-9:25 AMInformal Discussion on Laboratory Workforce Needs – Open SessionConveners: Yassmine Akkari and Bob Best
9:30-10:30 AMScientific Session: Sex Chromosome/DSD AbstractsModerators: Denise Quigley and Makenzie Fulmer
9:30-9:45 AMRare familial Rearrangement with Acrocentric Satellite Material on Yp Relocating to Xp in a Female FetusAnica M. Wandler, Aparna Murali, Thalia C. Mok, P. Nagesh Rao, Yalda Afshar, Sung-Hae L. Kang
9:45-10:00 AMGenetic Testing for Individuals with Non-syndromic Differences in Sex Development (DSD): Collaborative Approach Yields ResultsCate Randall Paschal, Candace T Myers, Madelyn Gillentine, Darci L Sternen, Audrey Squire, Patricia Fechner, Anne-Marie Amies Oelschlager, Margarett Shnorhavorian, Margaret Adam
10:00-10:15 AMVariability in Sex and Phenotype: Impact of a Familial Pathogenic DHX37 Variant Leading to 46,XY Gonadal DysgenesisFerrin Wheeler, Emily Solem, Laura Duncan, Cassandra Brady
10:15-10:30 AMA Rare Case of 46,XX/46,XXY Mosaic Klinefelter Syndrome in an InfantTiffany Guess, Ferrin Wheeler
10:30-11:00 AMBreak (all exhibits available for viewing)
11:00-12:00 PMInvited speaker – Charles Lee
Toward understanding the structure and function of the mammalian genome
Introduction by Sue Kang
12:00- 12:30 PM Program wrap up, final bingo prize, student award winners, ACC business meeting,
ACC 2024 Jen Winters
Bob Best and Barb DuPont, Ben Hilton and Makenzie Fulmer