Diagnostic features in paediatric <scp>MDS</scp>‐<scp>EB</scp> with <scp><i>UBTF</i></scp>‐internal tandem duplication: defining a unique subgroup
The unique combination of these histomorphological features strongly suggests a possible UBTF aberration. It will allow initiating the appropriate genetic testing to confirm the presence of UBTF-TD and identify potential additional genetic alterations. Such molecular profiling will not only contribute to a better understanding of the disease mechanism, but also facilitate more rational treatment approaches for these high-risk paediatric MDS patients.
Authors
- Markus Schmugge (ORCID: https://orcid.org/0000-0003-4745-8572)
- Christian Thiede (ORCID: https://orcid.org/0000-0003-1241-2048)
- Miriam Erlacher (ORCID: https://orcid.org/0000-0002-7261-1447)
- Stephan Schwarz‐Furlan
- Ayami Yoshimi‐Noellke
- Carole Gengler
- Guido Piontek
- Yuki Schneider‐Kimoto
- Martina Rudelius (ORCID: https://orcid.org/0000-0001-6928-9955)
- Charlotte M. Niemeyer (ORCID: https://orcid.org/0000-0003-3856-7937)
Institutions
- University of Freiburg (DE)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- University Children's Hospital Zurich (CH)
- University Hospital Ulm (DE)
- University Hospital Carl Gustav Carus (DE)
- Technische Universität Dresden (DE)
- Ludwig-Maximilians-Universität München (DE)
- University of Lausanne (CH)
Publication Details
- Journal
- Histopathology
- Published
- 2024-11-20
- DOI
- https://doi.org/10.1111/his.15378
- Citations
- 4
- Primary Topic
- Acute Myeloid Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 1.82