中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
4期
441-445
,共5页
徐方运%刘旭平%李承文%秦爽%孙万臣%崔雯%秘营昌%杨仁池%王建祥
徐方運%劉旭平%李承文%秦爽%孫萬臣%崔雯%祕營昌%楊仁池%王建祥
서방운%류욱평%리승문%진상%손만신%최문%비영창%양인지%왕건상
恶性血液病%细胞遗传学%临床特征
噁性血液病%細胞遺傳學%臨床特徵
악성혈액병%세포유전학%림상특정
hematologic malignancy%cytogenetics%clinical characteristics
目的 探讨恶性血液病伴有der(1;7)(q10;p10)患者临床及实验室特点.方法 对21例异常恶性血液病患者进行常规细胞遗传学分析,采用骨髓细胞24 h短期培养后,制备染色体标本,R显带,进行核型分析;用链霉卵白素-碱性磷酸酶(streptavdin-alkaline phosphate,SAP)法检测小巨核细胞;综合分析患者临床表现.结果 21例伴有der(1; 7)患者中男性患者19例、女性患者2例,男性明显多于女性.年龄＞60岁7例、50～59岁7例、40～49岁3例、40岁以下仅4例,中位年龄58岁.单纯der(1;7)(q10;p10)异常患者13例(61.9%),伴有附加染色体异常患者8例(38.1%).18例行SAP检测,16例(88.9%)有多形核小巨核细胞,其中10例(55.6%)有淋巴样小巨核细胞;患者病情进展快,对治疗反应差.结论 der(1;7)(q10;p10)多见于男性,就诊年龄大,具有独特的临床特征,预后差,der(1;7)(q10;p10)可作为判断预后的细胞遗传学指标.
目的 探討噁性血液病伴有der(1;7)(q10;p10)患者臨床及實驗室特點.方法 對21例異常噁性血液病患者進行常規細胞遺傳學分析,採用骨髓細胞24 h短期培養後,製備染色體標本,R顯帶,進行覈型分析;用鏈黴卵白素-堿性燐痠酶(streptavdin-alkaline phosphate,SAP)法檢測小巨覈細胞;綜閤分析患者臨床錶現.結果 21例伴有der(1; 7)患者中男性患者19例、女性患者2例,男性明顯多于女性.年齡＞60歲7例、50～59歲7例、40～49歲3例、40歲以下僅4例,中位年齡58歲.單純der(1;7)(q10;p10)異常患者13例(61.9%),伴有附加染色體異常患者8例(38.1%).18例行SAP檢測,16例(88.9%)有多形覈小巨覈細胞,其中10例(55.6%)有淋巴樣小巨覈細胞;患者病情進展快,對治療反應差.結論 der(1;7)(q10;p10)多見于男性,就診年齡大,具有獨特的臨床特徵,預後差,der(1;7)(q10;p10)可作為判斷預後的細胞遺傳學指標.
목적 탐토악성혈액병반유der(1;7)(q10;p10)환자림상급실험실특점.방법 대21례이상악성혈액병환자진행상규세포유전학분석,채용골수세포24 h단기배양후,제비염색체표본,R현대,진행핵형분석;용련매란백소-감성린산매(streptavdin-alkaline phosphate,SAP)법검측소거핵세포;종합분석환자림상표현.결과 21례반유der(1; 7)환자중남성환자19례、녀성환자2례,남성명현다우녀성.년령＞60세7례、50～59세7례、40～49세3례、40세이하부4례,중위년령58세.단순der(1;7)(q10;p10)이상환자13례(61.9%),반유부가염색체이상환자8례(38.1%).18례행SAP검측,16례(88.9%)유다형핵소거핵세포,기중10례(55.6%)유림파양소거핵세포;환자병정진전쾌,대치료반응차.결론 der(1;7)(q10;p10)다견우남성,취진년령대,구유독특적림상특정,예후차,der(1;7)(q10;p10)가작위판단예후적세포유전학지표.
Objective To investigate the clinical and laboratory characteristics of patients with various hematological malignancies harboring der( 1 ; 7 ) ( q10 ; p10). Methods Bone marrow samples were collected and undergone short-time unstimulated culture and R-banding, and karyotyped by conventional cytogenetic assay (CCA). Megalokaryocytes were detected by streptavidin-AKP (SAP). Retrospective analyses including the clinical and laboratory data were performed. Results Nineteen of the 21 patients were male.Most of the patients are of older age. Thirteen cases (61.9 % ) were der( 1 ;7) (q10 ; p10) without additional aberrations, 8 (38. 1%) patients had additional aberrations. Sixteen out of the 18 cases (88. 9%) who underwent SAP analysis had diminutive megalokaryocyte, and lymphoid megalokaryocyte was found in 10cases (55.6%). The der(1;7) patients manifested poor response to treatment. Conclusion The der(1;7)patients demonstrated distinct male predominance, older age at diagnosis, and some clinically distinctive features. These patients showed poor prognosis. The cytogenetic abnormality, i. e. , der ( 1 ; 7) (q10 ; p10),can be used as a prognostic indicator.
