Somatic mutations as markers of outcome after azacitidine and allogeneic stem cell transplantation in higher-risk myelodysplastic syndromes
Open accessAbstract
Somatic mutations have been shown to play a significant prognostic role in myelodysplastic syndromes (MDS). Actually, detection of a TP53, EZH2, RUNX1, ASXL1, or ETV6 mutation predicts rapid disease progression and may direct treatment choices in all MDS subgroups, also in the context of allogeneic stem cell transplantation (HSCT) [ 1 , 2 , 3 ], which to date remains the only curative option for higher-risk MDS (HR-MDS). We recently reported the results of the phase II multicentre BMT-AZA trial, which was designed to assess the feasibility of HSCT in HR-MDS and low-blast count acute myeloid leukemia (LBC-AML) after a short bridge with azacitidine (AZA) [ 4 ]. In this trial, hematopoietic cell transplantation-comorbidity index at the time of HSCT and response to AZA were independent predictors of overall survival (OS), underlining the importance of disease-debulking before HSCT.
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Remissions in TP53-mutant patients are brief, with a median overall survival ranging from 5 to 12 months.
“However, remissions in TP53-mutant patients are brief with a median overall survival (OS) ranging from 5 to 12 months,8,9,12,13,15-17”
From Eprenetapopt (APR-246) and Azacitidine in <i>TP53</i> -Mutant Myelodysplastic Syndromes (2021) · cites this paper as [16]
The paper’s results report that TP53 mutations independently predicted poorer overall and progression-free survival, and its discussion associates them with shorter time to relapse. It does not give a median overall survival of 5–12 months for TP53-mutant patients; the reported 17.6-month median overall survival is for the cohort as a whole. Page numbers are unavailable in our copy. (LLM, conf=0.87)
Experimental — accuracy not yet measuredRecent data support improved overall survival in patients with TP53 VAF clearance to <5%, which is rare in patients treated with azacitidine monotherapy.
“which is notable given recent data supporting improved OS in patients with TP53 VAF clearance to < 5%, which is rare in patients treated with azacitidine monotherapy.16,31”
From Eprenetapopt (APR-246) and Azacitidine in <i>TP53</i> -Mutant Myelodysplastic Syndromes (2021) · cites this paper as [16]
The main text (page unavailable) reports that TP53 burden decreased after azacitidine but mutations never became undetectable, supporting the general point that complete clearance was not achieved in this cohort. It does not report how often VAF fell below 5% or show improved overall survival specifically among patients who reached that threshold; it reports that TP53's adverse association with survival was independent of VAF. (LLM, conf=0.85)
Experimental — accuracy not yet measured
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Cites
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Eprenetapopt (APR-246) and Azacitidine in <i>TP53</i> -Mutant Myelodysplastic Syndromes
Sallman, D. A., DeZern, A. E., Garcia-Manero, G., Steensma, D. P., Roboz, G. J., Sekeres, M. A., Cluzeau, T., Sweet, K. L., McLemore, A., McGraw, K. L., et al. (2021) · Journal of Clinical Oncology · doi:10.1200/jco.20.02341 · Cited by 465 · see citing works
“PRD (63-97) DBD (102-292) TET (323-356) REG (363-393) TAD2 (43-62) TAD1 (1-42) CR mCR + HI mCR HI SD PD NR/NE”
Hunter, A. M., Komrokji, R. S., Yun, S., Al Ali, N., Chan, O., Song, J., Hussaini, M., Talati, C., Sweet, K. L., Lancet, J. E., et al. (2021) · Blood Advances · doi:10.1182/bloodadvances.2020003508 · Cited by 76 · see citing works
- Authors
- Falconi, G., Fabiani, E., Piciocchi, A., Criscuolo, M., Fianchi, L., Lindfors Rossi, E. L., Finelli, C., Cerqui, E., Ottone, T., Molteni, A., Parma, M., Santarone, S., Candoni, A., Sica, S., Leone, G., Lo-Coco, F., & Voso, M. T.
- Affiliations
- University of Rome Tor Vergata (IT)
- Fondazione Gimema Onlus (IT)
- Agostino Gemelli University Polyclinic (IT)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda (IT)
- Azienda Ospedaliera San Gerardo (IT)
- University of Udine (IT)
- Corresponding author
- Voso, Maria Teresa
- ORCID
- Venue
- Leukemia
- Published
- 2018-10-05
- Volume
- 33
- Issue
- 3
- Pages
- 785-790
- ISSN
- 0887-6924 (ISSN-L)
- 1476-5551
- PMC
- PMC6462855
- OpenAlex
- W2894710641
- Cited by
- 39
- References
- 13
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 8 · 2022: 7 · 2021: 6 · 2020: 9 · 2019: 6 · 2017: 1
- FWCI
- 3.77
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Leukemia (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion, cc-by)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Funders
- Associazione Italiana per la Ricerca sul Cancro (16952)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- somatic mutations, high-risk myelodysplastic syndrome, azacitidine, allogeneic stem cell transplantation, prognostic factors, TP53 mutation, EZH2 mutation, RUNX1 mutation, ASXL1 mutation, overall survival
- MeSH terms
- Adult, Aged, Azacitidine, Female, Humans, Male, Middle Aged, Mutation, Myelodysplastic Syndromes, Biomarkers, Tumor, Hematopoietic Stem Cell Transplantation, Young Adult
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