Clinical trial · Observational
SRSF2 Gene Mutation in Patients With t-MDS/AML
SRSF2 Gene Mutation in Patients With Therapy Related Myelodysplastic Syndromes / Acute Myeloid Leukemia
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
* To detect SRSF2 gene mutation by polymerase chain reaction (PCR) in the two types of t-MDS/AML which recognized in the WHO classification. * Association between SRSF2 gene mutation and the presence of other cytogenetic abnormalities in the two types of t-MDS/AML which recognized in the WHO classification, e.g. (Loss of chromosome 7 or del(7q), del(5q), isochromosome 17q, recurrent balanced chromosomal translocations involving chromosomal segments 11q23 (KMT2A, previously called MLL) or 21q22.1 (RUNX1), and PML-RARA). * Relationship between SRSF2 gene mutation and cumulative dose, dose intensity, time of exposure and prognostic criteria (disease free survival, overall survival and disease course).
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Therapy Related Myelodysplastic Syndrome and Therapy Related Acute Myeloid Leukemia | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| PCR and cytogenetics | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- AML
- description
- cases with denovo AML and t-AML
- interventionNames
- Diagnostic Test: PCR and cytogenetics
- label
- MDS
- description
- cases with denovo MDS and t-MDS
- interventionNames
- Diagnostic Test: PCR and cytogenetics
Primary outcomes (1)
- measure
- SRSF2 gene mutation detection in t-MDS/AML.
- timeFrame
- about 2 years
- description
- Detect SRSF2 gene mutation by polymerase chain reaction (PCR) in the two types of t-MDS/AML which recognized in the WHO classification.
Secondary outcomes (1)
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * Patients with myelodysplastic syndromes (MDS), who fulfill the WHO criteria. * Patients with acute myeloid leukemia (AML), who fulfill the WHO criteria. * Patients must start therapy (cytotoxic agents and/or ionizing radiotherapy) before beginning of the study, with a documented history of a benign or malignant condition for which they had received therapy prior to the diagnosis of MDS or AML. Exclusion Criteria: * Patients not fulfill the WHO criteria for diagnosis of MDS and AML.
References
Publications (12)
- BACKGROUNDFianchi L, Criscuolo M, Fabiani E, Falconi G, Maraglino AME, Voso MT, Pagano L. Therapy-related myeloid neoplasms: clinical perspectives. Onco Targets Ther. 2018 Sep 17;11:5909-5915. doi: 10.2147/OTT.S101333. eCollection 2018. PMID 30271175
- BACKGROUNDArber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11. PMID 27069254
- BACKGROUNDSella T, Stone RM. The impact of new drugs for breast and ovarian cancer on the occurrence of therapy-related myeloid neoplasms: Understanding the baseline incidence. Gynecol Oncol. 2018 Nov;151(2):187-189. doi: 10.1016/j.ygyno.2018.10.013. No abstract available. PMID 30384959
- BACKGROUNDHoskins AA, Moore MJ. The spliceosome: a flexible, reversible macromolecular machine. Trends Biochem Sci. 2012 May;37(5):179-88. doi: 10.1016/j.tibs.2012.02.009. Epub 2012 Apr 3. PMID 22480731
- BACKGROUNDBoultwood J, Dolatshad H, Varanasi SS, Yip BH, Pellagatti A. The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes. Adv Biol Regul. 2014 Jan;54:153-61. doi: 10.1016/j.jbior.2013.09.005. Epub 2013 Sep 15. PMID 24080589
- BACKGROUNDMaciejewski JP, Padgett RA. Defects in spliceosomal machinery: a new pathway of leukaemogenesis. Br J Haematol. 2012 Jul;158(2):165-173. doi: 10.1111/j.1365-2141.2012.09158.x. Epub 2012 May 18. PMID 22594801
- BACKGROUNDArmstrong RN, Steeples V, Singh S, Sanchi A, Boultwood J, Pellagatti A. Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches. Adv Biol Regul. 2018 Jan;67:13-29. doi: 10.1016/j.jbior.2017.09.008. Epub 2017 Sep 22.