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Updated: Nov 8, 2025

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
What's new in the pathogenesis and treatment of therapy-related myeloid neoplasms
Maria Teresa Voso1, Giulia Falconi1, Emiliano Fabiani1,2
1Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy; and.
Abstract:
Therapy-related myeloid neoplasms (t-MNs) include diseases onsetting in patients treated with chemo- and/or radiotherapy for a primary cancer, or an autoimmune disorder. Genomic variants, in particular, in familial cancer genes, may play a predisposing role. Recent advances in deep sequencing techniques have shed light on the pathogenesis of t-MNs, identifying clonal hematopoiesis of indeterminate potential (CHIP) as a frequent first step in the multihit model of t-MNs. CHIP is often detectable prior to any cytotoxic treatment, probably setting the fertile genomic background for secondary leukemogenesis. The evolution pattern toward t-MNs is then a complex process, shaped by the type of cancer therapy, the aging process, and the individual exposures, that favor additional hits, such as the acquisition of TP53 mutations and unfavorable karyotype abnormalities. The pathogenesis of t-MNs differs from MN associated with environmental exposure. Indeed, the genetic aberration patterns of MN developing in atomic bomb survivors show few mutations in classical DNA methylation genes, and a high prevalence of 11q and ATM alterations, together with TP53 mutations. Survival in t-MNs is poor. In addition to the biology of t-MNs, the patient's previous disease history and the remission status at t-MN diagnosis are significant factors contributing to unfavorable outcome. New drugs active in secondary leukemias include CPX-351, or venetoclax in combination with hypomethylating agents, monoclonal antibodies as magrolimab, or targeted drugs against pathogenic mutations. Allogeneic stem cell transplantation remains the best currently available therapeutic option with curative intent for fit patients with unfavorable genetic profiles.
Insights
Therapy-related myeloid neoplasms (t-MNs) develop after cancer treatment, often preceded by clonal hematopoiesis. Understanding t-MNs pathogenesis and genetic drivers is crucial for improving poor survival outcomes.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Therapy-related myeloid neoplasms (t-MNs) arise in patients treated for primary cancers or autoimmune disorders.
- Genomic variants, especially in familial cancer genes, may predispose individuals to t-MNs.
- Clonal hematopoiesis of indeterminate potential (CHIP) is a frequent early step in t-MN development, detectable before cytotoxic therapy.
Purpose of the Study:
- To elucidate the pathogenesis of therapy-related myeloid neoplasms (t-MNs).
- To differentiate t-MN pathogenesis from environmentally induced myeloid neoplasms.
- To highlight current and emerging therapeutic strategies for t-MNs.
Main Methods:
- Deep sequencing techniques to identify genomic variants.
- Analysis of genetic aberration patterns in t-MNs and comparison with radiation-induced myeloid neoplasms.
- Review of clinical factors influencing t-MN outcomes.
Main Results:
- CHIP often precedes cytotoxic treatment, establishing a genomic background for leukemogenesis.
- t-MN evolution involves therapy type, aging, and exposures, leading to TP53 mutations and unfavorable karyotypes.
- Genetic profiles of t-MNs differ from those in atomic bomb survivors, with distinct mutation patterns.
Conclusions:
- t-MN pathogenesis is a complex, multi-hit process influenced by various factors.
- Survival in t-MNs is poor, impacted by disease biology and patient history.
- Allogeneic stem cell transplantation offers curative potential; novel therapies are emerging for secondary leukemias.
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