Mertens F, Johansson B, Heim S, Kristoffersson U, Mandahl N, Turesson I, Malm C, Othzén A, Bartram C R, Catovsky D
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Leukemia. 1990 Feb;4(2):117-20.
Trisomy 14 was the sole karyotypic anomaly in three patients with Ph1-negative chronic myeloid leukemia, and the only abnormality in one of three clones in a fourth case. The hematologic features were partly myeloproliferative, partly myelodysplastic, and included myeloid hyperplasia, neutrophilia without basophilia, a relatively high number of immature granulocyte precursors in the peripheral blood, and monocytosis in three and dysgranulopoiesis in two of the patients. These data, in combination with the patients' high age at diagnosis, their short survival, and the lack of rearrangements of the major breakpoint cluster region (M-bcr) in the two cases where cells were available for molecular analysis, indicate that all four patients suffered from atypical chronic myeloid leukemia (aCML). We suggest that trisomy 14 may be a characteristic karyotypic abnormality in this hematologic disorder.
14三体是3例Ph1阴性慢性髓性白血病患者唯一的核型异常，也是第4例患者三个克隆之一中的唯一异常。血液学特征部分为骨髓增殖性，部分为骨髓发育异常，包括骨髓增生、无嗜碱性粒细胞增多的中性粒细胞增多、外周血中相对较多的未成熟粒细胞前体，3例患者有单核细胞增多，2例患者有粒细胞生成异常。这些数据，再加上患者诊断时年龄较大、生存期短以及在可进行分子分析的2例病例中主要断裂点簇区域（M-bcr）无重排，表明所有4例患者均患有非典型慢性髓性白血病（aCML）。我们认为14三体可能是这种血液系统疾病的特征性核型异常。
