O53: Can integrated genomic analysis replace chromosomal analysis for the diagnosis of hematological malignancies: Addressing the shortage of cytogenetic technologists
Chromosomal analysis (CA) has been part of the standard care for patients with hematological malignancies since Dr. Nowell and colleague discovered the Philadelphia chromosome in chronic myelogenous leukemia in 1961. CA examines cancer-associated numerical and structural abnormalities at the single-cell level and has played a significant role in leukemia diagnosis, risk stratification, and treatment selection. However, the resolution of CA in detecting chromosomal rearrangements and copy number variations (CNVs) is limited.
Authors
- Donna Wilmoth
- Brian Thiel
- Elizabeth Margolskee (ORCID: https://orcid.org/0000-0001-8597-0636)
- Luanne Wainwright
- Stephen P. Hunger (ORCID: https://orcid.org/0000-0002-5492-3957)
- Susan R. Rheingold (ORCID: https://orcid.org/0000-0001-8025-6767)
- Lea F. Surrey (ORCID: https://orcid.org/0000-0002-6944-2232)
- Haley Newman (ORCID: https://orcid.org/0000-0002-3022-8052)
- Minjie Luo (ORCID: https://orcid.org/0000-0002-5788-3962)
- Michele Paessler
- Sarah K. Tasian (ORCID: https://orcid.org/0000-0003-1327-1662)
- Marilyn M. Li (ORCID: https://orcid.org/0000-0002-4253-2369)
- Kathrin M. Bernt (ORCID: https://orcid.org/0000-0002-0691-356X)
- Gerald Wertheim (ORCID: https://orcid.org/0000-0002-1585-846X)
- Vinodh Pillai (ORCID: https://orcid.org/0000-0001-7126-6226)
- Dong Li (ORCID: https://orcid.org/0000-0002-2265-6727)
- Yiming Zhong (ORCID: https://orcid.org/0000-0002-6596-6952)
Institutions
- Children's Hospital of Philadelphia (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102480
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00