B-ALL With t(5;14)(q31;q32); IGH-IL3 Rearrangement and Eosinophilia: A Comprehensive Analysis of a Peculiar IGH-Rearranged B-ALL
B-ALL With t(5;14)(q31;q32); IGH-IL3 Rearrangement and Eosinophilia: A Comprehensive Analysis of a Peculiar IGH-Rearranged B-ALL
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DOI：
10.3389/fonc.2019.01374
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发表时间：
2019-12-10
影响因子：
4.7
通讯作者：
Baruchel, Andre
中科院分区：
文献类型：
--
作者：
Fournier, Benjamin;Balducci, Estelle;Baruchel, Andre
背景：t（5;14）（q31;q32）相关的B细胞急性淋巴细胞白血病; IGH-IL 3是嗜酸性粒细胞增多症的特殊原因。14 q32上的IGH增强子与5 q31上的IL 3基因并置，导致白细胞介素-3过量产生并在血液中释放成熟的嗜酸性粒细胞。文献中的临床、生物学和结局数据极其缺乏。除嗜酸性粒细胞增多症外，这些患者无相关共同特征。然而，在世界卫生组织的分类中，它已被列为一个单独的实体。病例介绍：回顾性入组了8例采用法国或奥地利方案治疗的t（5;14）（q31;q32）患者。在7例中进行了阵列比较基因组杂交、多重连接依赖探针扩增或基因组PCR搜索IKZF 1缺失。还分析了通过详尽检索文献发现的16例患者。对于这24例患者，诊断时的中位年龄为14.3岁，男性占优势（男女比例= 5）。与嗜酸性粒细胞相关的症状很常见（神经系统26%，血栓栓塞26%或肺部50%）。中位白色血细胞计数较高（72 x 10（9）/L），并与嗜酸性粒细胞增多相关（中位值：32 x 10（9）/L）。外周原始细胞以低水平存在或不存在（中位数：0 x 10（9）/L;范围：0-37 x 10（9）/L）。骨髓形态学以低原始细胞浸润为特征（中位数：42%）。我们在7名可分析患者中发现了5名IKZF 1缺失。14名患者的结局数据可用（中位随访时间：28个月）：8名死亡，6名存活，完全缓解。其中一些特征与其他IGH重排B细胞急性淋巴细胞白血病患者的特征一致：发病年龄小，男性，原始细胞计数低，IKZF 1缺失发生率高，预后中等。结论：基于共同的流行病学和生物学特征，t（5;14）（q31;q32）B细胞急性淋巴细胞白血病是IGH重排的B细胞急性淋巴细胞白血病的一个特殊子集，具有中等预后和与嗜酸性粒细胞增多相关的特殊临床特征。
Background: B-cell acute lymphoblastic leukemia associated with t(5;14)(q31;q32); IGH-IL3 is an exceptional cause of eosinophilia. The IGH enhancer on 14q32 is juxtaposed to the IL3 gene on 5q31, leading to interleukin-3 overproduction and release of mature eosinophils in the blood. Clinical, biological and outcome data are extremely scarce in the literature. Except for eosinophilia, no relevant common feature has been highlighted in these patients. However, it has been classified as a distinct entity in the World Health Organization classification. Cases Presentation: Eight patients with t(5;14)(q31;q32) treated by French or Austrian protocols were retrospectively enrolled. Array comparative genomic hybridization, multiplex ligation-dependent probe amplification or genomic PCR search for IKZF1 deletion were performed in 7. Sixteen patients found through an exhaustive search in the literature were also analyzed. For those 24 patients, median age at diagnosis is 14.3 years with a male predominance (male to female ratio = 5). Eosinophilia-related symptoms are common (neurologic in 26%, thromboembolic in 26% or pulmonary in 50%). Median white blood cells count is high (72 x 10(9)/L) and linked to eosinophilia (median: 32 x 10(9)/L). Peripheral blasts are present at a low level or absent (median: 0 x 10(9)/L; range: 0-37 x 10(9)/L). Bone marrow morphology is marked by a low blast infiltration (median: 42%). We found an IKZF1 deletion in 5 out of 7 analyzable patients Outcome data are available for 14 patients (median follow-up: 28 months): 8 died and 6 are alive in complete remission. Some of these features are concordant with those seen in patients with other IGH-rearranged B-cell acute lymphoblastic leukemias: young age at onset, male sex, low blast count, high incidence of IKZF1 deletion and intermediate prognosis. Conclusion: Based on shared epidemiological and biological features, B-cell acute lymphoblastic leukemia with t(5;14)(q31;q32) is a peculiar subset of IGH-rearranged B-cell acute lymphoblastic leukemia with an intermediate prognosis and particular clinical features related to eosinophilia.