Isolated del(5q) in myeloid malignancies: Clinicopathologic and molecular features in 143 consecutive patients
Isolated del(5q) in myeloid malignancies: Clinicopathologic and molecular features in 143 consecutive patients
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DOI：
10.1002/ajh.21984
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发表时间：
2011-05-01
影响因子：
12.8
通讯作者：
Tefferi, Ayalew
中科院分区：
文献类型：
--
作者：
Patnaik, Mrinal M.;Lasho, Terra L.;Tefferi, Ayalew
使用世界卫生组织（WHO）标准确定了1989年至2009年期间观察到的143例骨髓肿瘤和孤立性del（5 q）的连续患者（中位年龄73岁; 90例女性）。我们以前曾报道过88例（61%）符合WHO定义的“骨髓增生异常综合征（MDS）伴孤立性del（5 q）”标准的患者。剩下的55名患者被归类为患有“其他”MDS变体（n = 29; 20%）、急性髓性白血病（AML; n = 14; 10%）或骨髓增生性肿瘤（MPN; n = 12; 8%）。在138例患者中可获得DNA，突变筛查显示20例JAK 2，6例IDH，3例MPL突变; JAK 2和MPL突变主要见于MPN或“具有孤立del（5 q缺失的MD”，而IDH突变常见于其他MDS变体。143例患者队列的总体中位生存期为35个月，19例（相似于13%）病例记录了白血病转化（LT）。“MDS伴孤立del（5 q del）”预后最好，中位生存期为66个月，LT率接近6%。其他髓系肿瘤亚组的生存率很低，无论具体的形态学诊断。多变量分析表明，较高的白细胞计数和骨髓和循环原始细胞百分比是生存期缩短的独立预测因素。前两个参数和IDH突变的存在预测较低的无白血病生存率。目前的研究验证了将“伴有孤立del（5 q）的MDS”作为一个单独的WHO亚类的预后相关性，并在与孤立del（5 q）相关的髓系肿瘤中鉴定了白细胞增多、较高的原始细胞计数和IDH突变是有害的。Am.血液学杂志86：393-398，2011. (C)2011 Wiley-Liss，Inc.
World Health Organization (WHO) criteria were used to identify 143 consecutive patients (median age 73 years; 90 females) with myeloid neoplasms and isolated del(5q) seen between 1989 and 2009. We have previously reported on 88 (61%) of these patients who met criteria for WHO defined "myelodysplastic syndromes (MDS) with isolated del(5q).'' The remaining 55 patients were classified as having "other'' MDS variants (n = 29; 20%), acute myeloid leukemia (AML; n = 14; 10%), or myeloproliferative neoplasms (MPN; n = 12; 8%). DNA was available in 138 patients and mutation screening revealed 20 cases with JAK2, 6 with IDH, and 3 with MPL mutations; JAK2 and MPL mutations were seen mostly in MPN or "MD with isolated del(5q)'' whereas IDH mutations were frequent in other MDS variants. Overall median survival for the 143 patient cohort was 35 months and leukemic transformation (LT) was documented in 19 (similar to 13%) cases. "MDS with isolated del(5q)'' had the best prognosis with median survival of 66 months and LT rate of similar to 6%. Survival was poor among the other myeloid neoplasm subgroups regardless of specific morphologic diagnosis. Multivariable analysis identified higher leukocyte count and percentage of bone marrow and circulating blasts as independent predictors of shortened survival. The first two parameters and the presence of IDH mutations predicted inferior leukemia-free survival. The current study validates the prognostic relevance of considering "MDS with isolated del(5q)'' as a separate WHO subcategory and identifies leukocytosis, higher blast count, and IDH mutations as being prognostically detrimental, in myeloid neoplasms associated with isolated del(5q). Am. J. Hematol. 86:393-398, 2011. (C) 2011 Wiley-Liss, Inc.