Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis
Amanda M Maxfield, Michelle A Bickford, Kyle A Tonseth, Jing Bao, Farzana Murad, Devon N Wilson, Lauren M Wainman, John M Hill, Liam L Donnelly, Prabhjot Kaur, Laura J Tafe, Jeremiah X Karrs, Wahab A Khan · 2026
Read Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis by Amanda M Maxfield, Michelle A Bickford, Kyle A Tonseth, Jing Bao, Farzana Murad, Devon N Wilson, Lauren M Wainman, John M Hill, Liam L Donnelly, Prabhjot Kaur, Laura J Tafe, Jeremiah X Karrs, Wahab A Khan (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13377857.txt.
Description
Amanda M Maxfield and others use optical genome mapping to reveal hidden variants in adult T-lymphoblastic leukaemia in a 2026 case report. Adult T-lymphoblastic leukaemia often carries cryptic shape variants missed by standard cytogenetics and aimed tests, limiting risk stratification. A 29-year-old man presented with fever, chills, breathlessness, headache, and petechiae, with pancytopenia and marrow nearly 95 percent replaced by T-lymphoblasts.
Standard fluorescence testing found CDKN2A loss but did not fully define prognosis. Optical genome mapping uncovered multiple disease-defining and likely oncogenic alterations that routine work-up had missed. The case shows how comprehensive shape mapping can refine prognosis and guide therapy in adult leukaemia, where standard tests leave clinically meaningful aberrations hidden.
Catalog record
| CREATOR | Amanda M Maxfield, Michelle A Bickford, Kyle A Tonseth, Jing Bao, Farzana Murad, Devon N Wilson, Lauren M Wainman, John M Hill, Liam L Donnelly, Prabhjot Kaur, Laura J Tafe, Jeremiah X Karrs, Wahab A Khan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |