Hernández J M, del Cañizo M C, Cuneo A, García J L, Gutiérrez N C, González M, Castoldi G, San Miguel J F
Department of Hematology, Hospital Universitario and Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, Spain.
Ann Oncol. 2000 Apr;11(4):441-4. doi: 10.1023/a:1008393002748.
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.
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.
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 situ hybridization (FISH) studies failed to demonstrate ETV-6 gene involvement. The median survival time from diagnosis was only 14 months (range 3-56 months).
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.
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，其特征为白细胞增多、无费城染色体或BCR-ABL重排以及明显的髓系发育异常。部分病例存在绝对单核细胞增多，但可通过循环中未成熟粒细胞比例较高（>15%）与慢性粒-单核细胞白血病（CMML）相鉴别。
在一组根据FAB标准诊断为aCML的11例患者中，我们分析了其最相关的临床、血液学和细胞遗传学特征。
中位年龄为65岁（16 - 84岁）。除1例患者外，所有病例在诊断时均表现为白细胞增多（中位白细胞计数为36×10⁹/L），55%有中度贫血，36%有血小板减少。多数病例有明显的发育异常，尤其是粒细胞系（82%的病例），所有病例均显示骨髓红系增生低下。11例患者中有9例存在细胞遗传学异常。3例观察到8号染色体三体，其他克隆性染色体异常包括5q、13q、17p、12q和11q缺失以及t(6;8)(p23;q22)易位。荧光原位杂交（FISH）研究未显示ETV-6基因受累。从诊断开始的中位生存时间仅为14个月（范围3 - 56个月）。
这些数据表明，aCML是一种罕见疾病，其特征为白细胞增多、粒细胞生成异常、骨髓红系增生低下、染色体异常（虽不具有重复性）以及预后不良。
