Cuneo A, Gretel Carli M, Piva N, Fagioli F, Vandenberghe E, Dal Cin P, Castoldi G, Van Den Berghe H
Istituto di Ematologia, Università di Ferrara, Italy.
Haematologica. 1991 May-Jun;76(3):235-7.
Results of sequential chromosome and cytologic studies in a patient with erythroleukemia (EL) by FAB criteria are described here. Major karyotype aberrations (MAKA) as well as normal karyotypes were detected at presentation, when the patient showed erythroid hyperplasia with moderate leftward shift of erythropoiesis and trilineage myelodysplasia, a picture suggestive of multilineage involvement. Following conventional induction therapy, the patient entered a myelodysplastic phase (MDS) with the features of refractory anemia with excess of blasts and subsequently relapsed with classical EL with maturation arrest of erythroblasts. Chromosome studies revealed a 46, XY karyotype in the MDS phase and only MAKA at leukemia relapse. These findings provide further evidence of a multistep cytogenetic and clinicopathological evolution of EL. Concomitant cytogenetic and morphologic studies in this patient seem to suggest the presence of chromosomally abnormal erythroblasts and confirm the existence of a association between MAKA and maturation arrest of erythroblasts.
本文描述了一名符合FAB标准的红白血病（EL）患者的连续染色体和细胞学研究结果。在初诊时检测到主要核型异常（MAKA）以及正常核型，此时患者表现为红系增生，伴有中度的红细胞生成左移和三系骨髓发育异常，提示多系受累。经过传统诱导治疗后，患者进入骨髓增生异常阶段（MDS），具有难治性贫血伴原始细胞增多的特征，随后复发为典型的EL，伴有成红细胞成熟停滞。染色体研究显示在MDS阶段核型为46, XY，在白血病复发时仅检测到MAKA。这些发现为EL的多步骤细胞遗传学和临床病理演变提供了进一步证据。该患者的细胞遗传学和形态学同步研究似乎提示存在染色体异常的成红细胞，并证实MAKA与成红细胞成熟停滞之间存在关联。
