Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia
Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia
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DOI：
10.1023/a:1008393002748
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发表时间：
2000-04-01
影响因子：
50.5
通讯作者：
San Miguel, JF
中科院分区：
文献类型：
--
作者：
Hernández, JM;del Cañizo, MC;San Miguel, JF
背景：非典型慢性髓系白血病（aCML）是一种罕见的慢性骨髓增殖性疾病，其特征是白细胞增多，缺乏费城染色体或BCR-ABL重排，以及明显的髓系发育不良。一些病例有绝对的单核细胞增多，但可以通过循环中未成熟粒细胞的较高百分比（约15%）与慢性髓细胞白血病（CMML）区分。患者和方法：在11例根据FAB建议诊断为aCML的患者中，我们分析了最相关的临床、血液学和细胞遗传学特征。结果：中位年龄为65岁（16-84岁）。除一例外，所有病例在诊断时均有白细胞增多（白细胞中位数为36 × 10(9)/l）， 55%有中度贫血，36%有血小板减少症。大多数病例有明显的发育不良，特别是粒细胞谱系（82%的病例），所有病例均表现为骨髓红色发育不全。11例患者中有9例存在细胞遗传学异常。3例患者出现8三体，其他克隆性染色体异常包括5q、13q、17p、12q、11q缺失以及t(6;8)（p23;q22）易位。荧光原位杂交（FISH）研究未能证实ETV-6基因的参与。诊断后的中位生存时间仅为14个月（范围3-56个月）。结论：aCML是一种罕见的疾病，以白细胞增多、颗粒增生异常、BM红细胞发育不全、染色体虽不复发、异常、预后差为特征。
Background: Atypical chronic myeloid leukemia (aCML) is an infrequent chronic myeloproliferative disorder characterized by leukocytosis, absence of Philadelphia chromosome or BCR-ABL rearrangement, and marked myeloid dysplasia. Some cases have an absolute monocytosis but can be distinguished from chronic myelomonocytic leukemia (CMML) by the presence of a higher percentage (> 15%) of circulating immature granulocytes.Patients and methods: In a series of 11 patients with a diagnosis of aCML according to the FAB proposals we have analyzed the most relevant clinical, hematological and cytogenetic characteristics.Results: The median age was 65 years (16-84). All but one case showed, at time of diagnosis, leukocytosis (median WBC was 36 x 10(9)/l), 55% had moderate anemia and 36% had thrombocytopenia. Most cases had marked dysplasia, particularly in the granulocytic lineage (82% of the cases), and all cases showed bone marrow red hypoplasia. Cytogenetic abnormalities were present in 9 out of the 11 patients. Trisomy 8 was observed in three cases and other clonal chromosomal abnormalities included deletions of 5q, 13q, 17p, 12q, and 11q as well as a t(6;8)(p23;q22) translocation. Fluorescence in situhybridization (FISH) studies failed to demonstrate ETV-6 gene involvement. The median survival time from diagnosis was only 14 months (range 3-56 months).Conclusions: These data suggest that aCML is a rare disease which is characterized by leukocytosis, with dysgranulopoiesis, BM erythroid hypoplasia, chromosomal, though not recurrent, abnormalities and poor prognosis.