易位（3；21）是髓系干细胞疾病危象的特征。

Translocation (3;21) characterizes crises in myeloid stem cell disorders.

作者信息

Chen Z, Morgan R, Baer M R, Ligorsky R, Sandberg A A

机构信息

Cancer Center of Southwest Biomedical Research Institute, Scottsdale, Arizona 85251.

出版信息

Cancer Genet Cytogenet. 1991 Dec;57(2):153-9. doi: 10.1016/0165-4608(91)90146-l.

DOI:10.1016/0165-4608(91)90146-l

PMID:1756492

Abstract

Three patients, one with Philadelphia (Ph) chromosome positive chronic myelocytic leukemia (CML) and two with primary acquired myelodysplastic syndromes (MDS), have been identified to have a t(3;21)(q26;q22). In the patient with CML, the t(3;21) was detected only in the blast phase. The t(3;21) as the sole abnormality appeared at presentation of MDS [refractory anemia with excess blasts (RAEB)] in one patient and remained as such when progression to RAEB in transformation (RAEB-t) occurred. The other patient with MDS had the t(3;21), in addition to other changes, during the progression of the disease. Thus, t(3;21) may characterize myeloid crises of clonal hematopoietic stem cell disorders (HSCD) and indicates a poor prognosis. As a primary cytogenetic event it may be also involved in the genesis of myelodysplasia with subsequent leukemic transformation.

摘要

已确定3例患者存在t(3;21)(q26;q22)，其中1例为费城（Ph）染色体阳性慢性粒细胞白血病（CML），2例为原发性获得性骨髓增生异常综合征（MDS）。在CML患者中，t(3;21)仅在急变期被检测到。t(3;21)作为唯一异常出现在1例MDS患者（伴有过多原始细胞的难治性贫血，RAEB）初诊时，且在疾病进展为转化中的RAEB（RAEB-t）时仍保持如此。另1例MDS患者在疾病进展过程中，除其他变化外，也存在t(3;21)。因此，t(3;21)可能是克隆性造血干细胞疾病（HSCD）髓系危象的特征，提示预后不良。作为原发性细胞遗传学事件，它可能也参与了骨髓增生异常伴随后白血病转化的发生。