46th American Cytogenomics Conference Hilton Head Island, SC May 3-6, 2020
(full program, including presentation assignments to be published in Cancer Genetics)

Sunday, May 3

2:00-7:00 PMConference registrationSantee Ballroom Foyer
11:00-4:00 PMExhibit registrationsSantee Ballroom Foyer
Exhibit and poster set-upSantee Ballroom A-D
(exhibits to be open during Sunday reception, all breakfasts, and all breaks)
5:00 -7:00 PM Opening receptionExhibit Hall, Santee Ballroom A-D

Note: All scientific sessions will take place in Santee Ballroom E-H unless otherwise noted.

Monday, May 4

7:00-8:00 AMContinental breakfastExhibit Hall, Santee Ballroom A-D
8:00-8:15 AMWelcome and announcements
Barb DuPont, 2018-2020 ACC President
Robert Best, 2020 Program Chair
8:15-9:00 AMScientific Session: Cancer Cytogenetics 1Moderators: Ruthann Pfau and Ying Zou
8:15-8:30 AMGenetic characterization of tetraploid/near-tetraploid acute myeloid leukemia patients
Matthew Avenarius, Zachary Abrams, Ling Guo, James Blachly, Cecelia Miller, Kevin Coombes, Lynne Abruzzo
8:30-8:45 AMChronic lymphocytic leukemia with gain of 2p responds favorably to ibrutinib despite frequent co-occurrence with additional adverse cytogenetic markersCecelia R. Miller, Amy S. Ruppert, Ying Huang, Jadwiga Labanowska, Samantha Jaglowski, Kami Maddocks, Lynne V. Abruzzo, Nyla A. Heerema, John C. Byrd, Erin K. Hertlein, Jennifer A. Woyach
8:45-9:00 AMMasked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changesMary M. Haag, Billie Carstens, Veronica McDaniel, Alex Ohene-Mobley, Jamie LeRoux, Peter Brzeskiewicz,Kimberly Harding, Sudabeh Balakhani, Rui Zheng, Michael Verneris, Karen Swisshelm, Liming Bao
9:00-10:00 AMInvited speaker – Dr. Christina Lockwood (introduction by Ross Rowsey)Challenges and emerging opportunities for circulating tumor DNA testing in clinical laboratories
10:00-10:30 AMBreak (all posters and exhibits available for viewing)Exhibit Hall, Santee Ballroom A-D
10:30-12:00 PMScientific Session: Next-Gen SequencingModerators: Lina Shao and Gail Wenger
10:30-10:45 AMCRISPR Cas9-mediated targeted sequencing on nanopore: a powerful technology to map complex structural chromosome abnormalitiesVictoria Stinnett, Laura Morsberger, Patricia Long, Ying Zou
10:45-11:00 AMNanomapping with Cas9: A new high-resolution and efficient method for characterizing chromosomal rearrangementsSean Koebley*, Andrey Mikheykin, Colleen Jackson-Cook, Jason Reed
*Student award recipient
11:00-11:15 AMClassifying benign multigenic CNVs: Exploring available population databaseJeanne Meck, Rebecca Torene, Laura Sack,Tracy Brandt
11:15-11:30 AMLaboratory and clinician collaboration yields results: Development of a comprehensive craniosynostosis genetic testing panel with a high diagnostic rateCate Randall Paschal, Candace Myers, Darci Sternen, Jaya Narayanan, Becky Gaulin, Tara Wenger, Michael Cunningham, Anne Hing
11:30-11:45 AMDe novo homozygous variant due to uniparental isodisomy results in a recessive disorderJennifer M. Gass, Raymond J. Louie, Allie Merrihew, Benjamin A. Hilton, Barbara R. DuPont, Michael Lyons
11:45-12:00 PMInterpreting TP53 variants identified by NGS in the setting of complex karyotypes: examples of potential cryptic copy number alterations and copy-neutral loss of heterozygosityCeleste C. Eno, P. Nagesh Rao, Fabiola Quintero-Rivera, Sung Hae L. Kang, Sophie X. Song, Sheeja T. Pullarkat, Dinesh S. Rao, T. Niroshi Senaratne, Thomas D. Lee
12:00-12:30 PMGenome level vendor presentation
12:30-1:45 PMConcurrent Chromosome level vendor presentations
1:45-3:15 PMScientific Session: Copy Number VariationModerators: Holli Drendel and Jay Alden
1:45-2:45 PMACMG/ClinGen CNV technical standards
2:45-3:00 PMReevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated processDenise I Quigley, Zoe K Lewis, Timothy Tidwell, Adam Clayton, Brandon Chandler, Julie L Cox, Bo Hong, Allen N Lamb, Patricia Mowery-Rushton, Roger Schultz, Reha Toydemir, Xinjie Xu, Erica F Andersen
3:00-3:15 PMRe-analysis of reported constitutional copy number variants using the newly published 2019 ACMG/ClinGen Technical Standards reveals few significant interpretation changesFerrin Wheeler
3:15- 3:45 PMGenome level vendor presentation
3:45-4:15 PMBreak (all posters and exhibits available for viewing)Exhibit Hall, Santee Ballroom A-D
4:15-6:00 PMScientific Session: MicroarrayModerators: Nicole Hoppman and Avinash Dharmadhikari
4:15-4:30 PMIn silico SNP array for aiding in interpretation of genomic microarray results: Application to case of mosaic trisomy 9Timothy Fee, David B. Everman, Benjamin A. Hilton, Barbara DuPont
4:30-4:45 PMIncidental findings on XON array: Our experience over the last two yearsBenjamin Hilton, Timothy Fee, Alka Chaubey, Barbara R. DuPont
4:45-5:00 PMStandardizing recurrent copy number variant classification – From benign to reduced and high penetrance regionsErica F. Andersen, John Herriges, Bradley Coe, Laura Conlin, McKinsey Goodenberger, Benjamin Hilton, Vaidehi Jobanputra, Brynn Levy, Prabakaran Paulraj, Erin Rooney Riggs, Cassandra Runke, Justin Schleede, Marsha Speevak, Shulin Zhang, Erik Thorland, Christa Lese Martin
5:00-5:15 PMA rare constitutional 13q deletion associated with retinoblastoma and chronic lymphocytic leukemiaCinthya J Zepeda Mendoza, Sikander Ailawadhi, Daniel L Van Dyke
5:15-5:30 PMComparison of different SNP microarray designs and whole genome sequencing for cytogenetic testingRaja Keshavan, Shalini Verma, Soheil Shams
5:30-5:45 PMA partial deletion of the EP300 gene detected by microarray in an individual with mild autismCasey J. Brewer, Abbas Padeganeh, Mariam Ghochani, Atieh Hajianpour, Mike M. Moradian, Ruan T. Ramjit
5:45-6:00 PMRemember breakpoint two. Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements.Niels Tommerup
7:30 PMDistinguished Cytogeneticist Dinner
Recipient: Cynthia Casson Morton
Santee Ballroom E-H

Tuesday, May 5

7:00-8:00 AM Continental breakfastExhibit Hall, Santee Ballroom A-D
8:00-9:00 AMScientific Session: Constitutional CytogeneticsModerators: Sung Hae L Kang and Sean Koebley
8:00-8:15 AMFrequencies of Turner syndrome abnormalities as detected by high resolution chromosomal microarray in products of conception and postnatal blood samplesJaime L. Lopes, Elyse Mitchell, Rhett Ketterling, Nicole Hoppman
8:15-8:30 AMRevisiting centromeric polymorphisms: Implications for POC and prenatal interphase FISH studiesAvinash V. Dharmadhikari*, Jun Liao, Brynn Levy
*Student award recipient
8:30-8:45 AMA new isogenic trisomy 21 iPSC resourceColleen Jackson-Cook, Kelly Rafferty, Anita Bhattacharyya
8:45-9:00 AMNew evidence for triplosensitivity of TBL1XR1Kameryn M. Butler, Benjamin Hilton, Katie Clarkson, Shannon Bell, Barbara DuPont
9:00-10:00 AMInvited speaker: Jeanne Lawrence (introduction by Jeanne Higgins)Translating a natural mechanism for X-chromosome silencing to Trisomy 21
10:00-10:15 AM Service award presentationRecipient: Debra Saxe
10:15-10:45 AMBreak (all posters and exhibits available for viewing)Exhibit Hall, Santee Ballroom A-D
10:45-12:15 PMScientific Session: Cancer Cytogenetics 2Moderators: Caroline Astbury and Lilia Gheghiani
10:45-11:00 AMGiant cell glioblastoma with massive loss of heterozygosity: A new molecularly defined subtypeJay Alden*, Tiffany G. Baker, Cynthia T. Welsh, Iya Znoyko, Scott Lindhorst, Adrian M. Dubuc, David Meredith, Linda D Cooley, Midhat Farooqi, Melissa Gener, Daynna J. Wolff
*Student award recipient
11:00-11:15 AMThe value of genomic profiling in CNS tumorsYassmine Akkari, Donna Blackwell, Sarah Walter, Kelsie Storm, Devon Lopetrone, Sonya Gonzales, Stacie Lupo
11:15-11:30 AMPersonalized medicine in practice: Comprehensive cytogenomic profiling of a lung adenocarcinoma leads to re-classification of a concurrent lymphomaPanieh Terraf, Annette S. Kim, Shuji Ogino, Adrian M. Dubuc
11:30-11:45 AMGenome-wide copy number abnormalities in lipomatous neoplasms detected with chromosomal microarray: Is gain of MDM2 necessary for 12q amplification characterization and prognostication?Chen Yang, Steven Smith, Catherine Akbarzadeh, Jeff Keiser, Colleen Jackson-Cook
11:45-12:00 PMCorrelation of histology, CCND1 over-expression, and CCND1 rearrangement in Renal Cell CarcinomasJaclyn B. Murry, Celeste Eno, Neil Mendhiratta, Huihui Ye, Anthony Sisk, Adebowale Adeniran, Brian Shuch, Sung Hae L. Kang
12:00-12:15 PMALK tissue FISH in lung cancer: The MDACC experienceZhenya Tang, Hui Chen, Hai Suk Jung, Guilin Tang, Gokce Toruner, Jun Gu, Joseph D. Khoury, L. Jeffrey Medeiros
12:15Adjourn for optional afternoon activities
6:00 PM-10:30 PMBuffet dinner and dancingSonesta Oceanfront Beach Pavilion

Wednesday, May 6

7:30-8:30 AMContinental breakfast (all posters and exhibits available for viewing)Exhibit Hall, Santee Ballroom A-D
8:30-9:45 AMScientific Session: Cancer Cytogenetics 3Moderators: Ferrin Wheeler and Ben Hilton
8:30-8:45 AMKMT2A-ARHGEF12 fusion in Burkitt-like LymphomaHou-Sung Jung, Fumin Lin, Adam Wolpaw, Anne F. Reilly, Minjie Luo, Gerald B. Wertheim, Marilyn M. Li
8:45-9:00 AMClinical utility of mate pair sequencing as a reflex test in B-lymphoblastic leukemia/lymphomaNicole Hoppman, Beth Pitel, Ivy Luoma, Matthew Webley, Sarah Koon, Kathryn Pearce, James B. Smadbeck, Sarah H. Johnson, George Vasmatzis, Cinthya Zepeda Mendoza, Rhett P. Ketterling, Linda Baughn, Patricia Greipp, Jess Peterson
9:00-9:15 AMStructural changes characterized by whole genome mate-pair sequencing in a case with ETV6/ABL1 gene fusion and atypical Chronic Myeloid LeukemiaZhongxia Qi, Jingwei Yu
9:15-9:30 AMConcomitant Presence of iAMP21 and ETV6-RUNX1 / BCR-ABL1 in childhood B-cell acute lymphoblastic leukemiaMakenzie L. Fulmer, Faisal Razzaqi, Erica Andersen, Reha Toydemir, Bo Hong
9:30-9:45 AMIncreased Polo-like kinase 1 (Plk1) expression promotes centrosome amplification, chromosomal instability, and tumor formation in a mouse modelLilia Gheghiani, Lei Wang, Youwei Zhang, Xavier Moore, Jinglei Zhang, Steven C. Smith, Yijun Tian, Liang Wang, Kristi Turner, Colleen Jackson-Cook, Nitai Mukhopadhyay, Zheng Fu
9:45-10:15 AMGenome level vendor presentation
10:15-10:45 AMBreak (all posters and exhibits available for viewing)Exhibit Hall, Santee Ballroom A-D
10:45-11:45 AMInvited speaker – Charles Lee (introduction by Robert Best)Modeling precision medicine
11:45- 12.15 PM ACC Business Meeting
Award Recognition
ACC 2022 Jen Winters