SRSF2 Gene Mutation in Patients With Therapy Related Myelodysplastic Syndromes / Acute Myeloid Leukemia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 139
- 试验地点
- 2
- 主要终点
- SRSF2 gene mutation detection in t-MDS/AML.
研究概览
简要总结
- 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).
详细描述
Therapy-related myeloid neoplasms (t-MNs) are a group of hematologic diseases that arise after chemotherapy and/or radiation therapy for a previous cancer or rarely autoimmune diseases.
The revised 2016 World Heath Organization (WHO) classification defines t-MN as a subgroup of acute myeloid leukemia (AML) comprising myelodysplastic syndrome (t-MDS), acute myeloid leukemia (t-AML), and myelodysplastic/myeloproliferative neoplasms (t-MDS/MPN) .
Two forms of t-MN have been recognized. Alkylating agent/radiation-related t-MN usually appears 4 to 7 years, which is frequently associated with unbalanced chromosomal abnormalities involving chromosomes 5 and/or 7, as well mutations or loss of TP53 ( tumor protein 53).
In contrast, a combination of different topoisomerase II inhibitor-related t-MNs is associated with a high incidence of recurrent balanced translocations involving chromosomal segments 11q23 (KMT2A), 21q22 (RUNX1), and PML-RARA [1].
T-MNs are characterized by a subset of molecular mutations including SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, STAG2, and TP53.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Patients not fulfill the WHO criteria for diagnosis of MDS and AML.
结局指标
主要结局
SRSF2 gene mutation detection in t-MDS/AML.
时间窗: about 2 years
Detect SRSF2 gene mutation by polymerase chain reaction (PCR) in the two types of t-MDS/AML which recognized in the WHO classification.
次要结局
- Cytogenetic analysis (FISH) of patient with t-MDS/AML.(about 2 years)
研究者
Zeinab Albadry Mohammed Zahran
Assistant lecturer,Clinical Pathology Departement,Faculty of Medicine, Assiut University
Assiut University