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存在11q23/MLL基因重排的儿童急性骨髓性白血病的新预后亚组：一项国际性回顾性研究的结果
Novel prognostic subgroups in childhood 11q23/MLL-rearranged acute myeloid leukemia: results of an international retrospective study
Balgobind BV, Raimondi SC, Harbott J  2010/9/13 18:02:13 
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Blood, 2009,
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Abstract
Translocations involving chromosome 11q23 frequently occur in pediatric acute myeloid leukemia (AML) and are associated with poor prognosis. In most cases, the MLL gene is involved, and more than 50 translocation partners have been described. Clinical outcome data of the 11q23-rearranged subgroups are scarce because most 11q23 series are too small for meaningful analysis of subgroups, although some studies suggest that patients with t(9;11)(p22;q23) have a more favorable prognosis. We retrospectively collected outcome data of 756 children with 11q23- or MLL-rearranged AML from 11 collaborative groups to identify differences in outcome based on translocation partners. All karyotypes were centrally reviewed before assigning patients to subgroups. The event-free survival of 11q23/MLL-rearranged pediatric AML at 5years from diagnosis was 44%(± 5%), with large differences across subgroups (11%±5% to 92%±5%). Multivariate analysis identified the following subgroups as independent prognostic predictors: t(1;11)(q21;q23) (hazard ratio [HR]=0.1, P=.004); t(6; 11)(q27;q23) (HR=2.2, P<.001); t(10; 11)(p12;q23) (HR=1.5, P=.005); and t(10;11)(p11.2;q23) (HR=2.5, P=.005). We could not confirm the favorable prognosis of the t(9;11)(p22;q23) subgroup. We identified large differences in outcome within 11q23/MLL-rearranged pediatric AML and novel subgroups based on translocation partners that independently predict clinical outcome. Screening for these translocation partners is needed for accurate treatment stratification at diagnosis.
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疾病资源中心  疾病资源中心
病例分析 <span class="ModTitle_Intro_Right" id="EPMI_Home_MedicalCases_Intro_div" onclick="javascript:window.location='http://www.elseviermed.cn/tabid/127/Default.aspx'" onmouseover="javascript:document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.cursor='pointer';document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.textDecoration='underline';" onmouseout="javascript:document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.textDecoration='none';">[栏目介绍]</span>  病例分析 [栏目介绍]
甲状腺功能亢进合并黄疸

 王燕燕 王曙

上海交通大学附属瑞金医院内分泌科

患者，女，69岁。2009年1月无明显诱因下出现乏力，当时程度较轻，未予以重视。2009年3月患者乏力症状加重，尿色逐渐加深，大便习惯改变，颜色变淡。4月18日入我院感染科治疗，诉轻度头晕、心慌，体重减轻10kg。无肝区疼痛，无发热，无腹痛、腹泻、腹胀、里急后重，无恶性、呕吐等。入院半月前于外院就诊，查肝功能：ALT 601IU/L，AST 785IU/L，TBIL 97.7umol/L，白蛋白 41g/L，甲状腺功能：游离T3 30.6pmol/L，游离T4 51.9pmol/L，心电图示快速房颤。
 

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