本文選題：骨髓增生異常綜合征　切入點：急性髓系白血病　出處：《山西醫(yī)科大學》2017年碩士論文

【摘要】：目的:回顧性收集和分析骨髓增生異常綜合征(myelodysplastic syndrome,MDS)轉(zhuǎn)化為AML(acute myeloid leukemia,AML)患者的臨床特征,評價高危分子或細胞遺傳學特征、地西他濱治療與MDS轉(zhuǎn)AML之間的關(guān)系方法:1.收集2011年1月至2016年12月山西醫(yī)科大學第二醫(yī)院收治的MDS轉(zhuǎn)AML的病例,統(tǒng)計其年齡、性別、臨床表現(xiàn)、血象、骨髓象、染色體核型、FISH、基因突變、IPSS評分等資料;分析其臨床特征及實驗室資料包括血象、骨髓象、基因突變、染色體、FISH、治療方案等與MDS轉(zhuǎn)化為AML之間的關(guān)系。2.將患者按照治療方案分組,即含地西他濱組和傳統(tǒng)治療組,比較兩組的轉(zhuǎn)白血病時間有無統(tǒng)計學差異;(轉(zhuǎn)白血病時間:按照從確診MDS到轉(zhuǎn)化為AML的時間)結(jié)果:1.MDS轉(zhuǎn)AML患者總數(shù)51例,其中男性31例(60.78%),女性20例(39.22%),男女比例為3:2,總體年齡分布區(qū)間[14-82]歲,中位年齡為59歲。51例患者中最常見的MDS類型為MDS-EB-2,轉(zhuǎn)白血病的中位時間為6[0.5-36]個月,白血病類型包括:AML-M4、AML-M5、AML-M6、未分型AML。2.臨床表現(xiàn):貧血(50例),發(fā)熱(12例),出血表現(xiàn)(6例),3例出現(xiàn)髓外浸潤,包括中樞神經(jīng)系統(tǒng)白血病(Central nervous system leukemia,CNSL)2例和皮膚浸潤1例。3.51例患者中共檢測到21例伴有染色體核型異常,7例伴有基因突變(TET2、DNMT3A、ASXL1、ASXL2、RUNX1、P53、NPM1突變);其中6例轉(zhuǎn)AML后出現(xiàn)新的染色體核型,5例出現(xiàn)新的基因突變。4.經(jīng)統(tǒng)計學分析,性別和年齡與MDS向AML轉(zhuǎn)化無顯著性統(tǒng)計學差異(P0.05);而血細胞減少系列數(shù)、MDS分型、染色體核型異常的類型和數(shù)量與MDS向AML轉(zhuǎn)化密切相關(guān),且差異均具有統(tǒng)計學意義。5.預后及轉(zhuǎn)歸:51例患者在MDS階段的治療方案,分為:含地西他濱組和傳統(tǒng)治療組;經(jīng)統(tǒng)計學分析,含地西他濱組的平均轉(zhuǎn)白血病時間為10.7個月,傳統(tǒng)治療組為6.6個月,但t檢驗分析,兩組轉(zhuǎn)白血病時間的差異并無統(tǒng)計學差異(P0.05),這與文獻報道并不一致。結(jié)論:1.MDS患者極易向AML轉(zhuǎn)化,且預后極差,病死率高;2.MDS轉(zhuǎn)AML患者中,白血病類型多為AML-M4,多以血細胞減少所致的癥狀為主要臨床表現(xiàn),可伴有髓外浸潤;3.血細胞減少的系列數(shù)、MDS分型、染色體核型異常的類型和數(shù)量,可能是影響MDS向AML轉(zhuǎn)化的重要因素;4.去甲基化治療,或可延長MDS患者向AML轉(zhuǎn)化的時間。
[Abstract]:Objective: to retrospectively collect and analyze the clinical characteristics of patients with myelodysplastic syndrome (MDS) transformed into AML(acute myeloid leukemia (AML(acute), and to evaluate the characteristics of high risk molecules or cytogenetics. Methods: 1. To collect the cases of MDS to AML treated in the second Hospital of Shanxi Medical University from January 2011 to December 2016, and to calculate their age, sex, clinical manifestations, blood and bone marrow images. The clinical features and laboratory data, including hematology, bone marrow, gene mutation, chromosome FISH, treatment regimen, and the conversion of MDS to AML, were analyzed. 2. The patients were divided into two groups according to the treatment plan. There was no statistical difference in the time of leukemia conversion between the two groups (the time of leukemia conversion: according to the time from confirmed MDS to transforming to AML). 1. The total number of patients with MDS to AML was 51. Among them, 31 cases were male and 20 cases were female. The ratio of male to female was 3: 2. The overall age distribution was [14-82] years. The median age was 59 years. The most common type of MDS was MDS-EB-2. The median time to leukemia was 6 [0.5-36] months. The types of leukemia include: AML-M4, AML-M5, AML-M6, unclassified AML-M6.Clinical manifestations: anemia in 50 cases, fever in 12 cases, hemorrhage in 6 cases and extramedullary infiltration in 3 cases. A total of 21 cases with chromosomal karyotype abnormalities were detected in 2 cases of Central nervous system leukemiaSl and 1 case of skin infiltration. 7 cases were found to be accompanied with gene mutation Tet 2T 3A, ASXL1, RUNX1, RUNX1, RUNX1, P53NPM1, and 6 of them had new chromosomal nuclear mutations after AML transformation, and 7 patients with DNMT3An ASXL1 / ASXL1 / RUNX1 / RUNX1 / P53NPM1 / P53NPM1 mutation were found in 7 patients with abnormal chromosomal karyotype. New gene mutation. 4. by statistical analysis, There was no significant statistical difference between sex and age in the transformation of MDS to AML, but there was a close relationship between the type and number of abnormal karyotype of MDS and the transformation of MDS to AML. The prognosis and outcome of 51 patients with MDS were divided into two groups: the dietabine group and the traditional treatment group, and the mean time of leukemia was 10.7 months in the dietabine group. It was 6.6 months in the traditional treatment group, but there was no significant difference between the two groups in the time of transition to leukemia (P 0.05), which was not consistent with the literature reports. Conclusion: 1. MDS patients are easy to transform to AML, and the prognosis is very poor. 2. In the patients with high mortality of MDS to AML, there is no significant difference between the two groups. Most of the leukemia types are AML-M4, the main clinical manifestations are the symptoms caused by hematopenia, which may be accompanied by extramedullary infiltration. Demethylation therapy may be an important factor affecting the transformation of MDS to AML, or it may prolong the time of AML transformation in MDS patients.
【學位授予單位】：山西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R551.3;R733.71

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本文編號：1658050