37. Tumorgenetischen Arbeitstagung 2025
Abstract
The acquisition of subsequent genetic lesions (clonal evolution, CE) and/or the expansion of existing clones (CEXP) contributes to clonal dynamics (CD) in myelodysplastic syndromes (MDS). Although CD plays an important role in high-risk patients in disease progression and transformation into acute myeloid leukemia (AML), knowledge about CD in lower-risk MDS (LR-MDS) patients is limited due to lack of robust longitudinal data considering the long clinically stable courses of the disease. In this retrospective analysis, we delineate the frequency and the prognostic impact of CD in an unselected real-world cohort of LR-MDS patients. We screened 68 patients with a median follow-up of 40.5 months and a median of 7.5 (range: 2–22) timepoints for CE and CEXP detected by chromosomal banding analysis, fluorescence in situ hybridization (FISH), sequencing, and molecular karyotyping. In 30/68 patients, 47 CE events and a CD rate of 1 event per 4 years were documented. Of note, patients with at least 1 CE event had an increased probability for subsequent treatment. Unexpectedly, CE did not correlate with inferior outcome, which could be reasonably explained by CD detection triggering the subsequent start of a disease-modifying therapy (DMT).
© 2025 Walter de Gruyter GmbH, Berlin/Boston
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- MAIN TOPIC Precision Medicine
- Precision medicine
- Editorial – Patient perspectives on new therapies for genetic diseases
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- Antisense oligonucleotide therapies for monogenic disorders
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- BERICHTE AUS DER HUMANGENETIK
- Habilitationen & Neue Professuren
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- Stellungnahmen und Leitlinien
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- GfH-Verbandsmitteilungen
- Tagungsbericht des Tagungspräsidenten Univ.-Prof. Dr. med. Johannes Zschocke, Ph.D.
- Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos
- Humangenetik-Promotionspreise 2025
- Protokoll der 37. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 03.04.2025 anlässlich der 35. GfH-Jahrestagung in Innsbruck, 02.–04.04.2025
- 37. Tumorgenetischen Arbeitstagung 2025
- Updates zum Modellvorhaben Genomsequenzierung nach § 64e SGB V
- BVDH-Verbandsmitteilungen
- Regulatorische Vorgaben beanspruchen zunehmend Kapazitäten in humangenetischen Laboren
- Save the Date – BVDH Herbsttagung 2025
Articles in the same Issue
- Frontmatter
- MAIN TOPIC Precision Medicine
- Precision medicine
- Editorial – Patient perspectives on new therapies for genetic diseases
- A clinician’s guide to AAV production – How manufacturing platforms shape vector properties
- Antisense oligonucleotide therapies for monogenic disorders
- Current and future precision therapy approaches in the long QT syndrome
- Preventing adverse drug reactions and more: current clinical use of pharmacogenetic testing
- BERICHTE AUS DER HUMANGENETIK
- Habilitationen & Neue Professuren
- Berlin: Prof. Dr. med. Martin A. Mensah – Humangenetik am Helios Klinikum Berlin-Buch und Professur für Humangenetik an der MSB Medical School Berlin
- Stellungnahmen und Leitlinien
- S1- Leitlinie „Molekulargenetische Diagnostik mit Hochdurchsatz-Sequenzierverfahren (Massives Paralleles Sequenzieren, MPS)“
- GfH-Verbandsmitteilungen
- Tagungsbericht des Tagungspräsidenten Univ.-Prof. Dr. med. Johannes Zschocke, Ph.D.
- Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos
- Humangenetik-Promotionspreise 2025
- Protokoll der 37. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 03.04.2025 anlässlich der 35. GfH-Jahrestagung in Innsbruck, 02.–04.04.2025
- 37. Tumorgenetischen Arbeitstagung 2025
- Updates zum Modellvorhaben Genomsequenzierung nach § 64e SGB V
- BVDH-Verbandsmitteilungen
- Regulatorische Vorgaben beanspruchen zunehmend Kapazitäten in humangenetischen Laboren
- Save the Date – BVDH Herbsttagung 2025
