Ol'shanskaia Iu V, Mikhaĭlova E A, Domracheva E V, Udovichenko A I, Davidian Iu R, Vodinskaia L A, Zakharova A V, Kokhno A V, Kaplanskaia I B, Tikhonova L Iu, Tsvetaeva N V, Parovichnikova E N, Savchenko V G
Ter Arkh. 2006;78(7):31-4, 36-7.
To estimate detectability and characteristic features of chromosomal aberrations in bone marrow cells of patients with aplastic anemia (AA).
The trial covered 155 AA patients admitted to the Hematological Research Center in 1987-2002. Cytogenetic study by G-differential staining was performed in 58 patients with AA and 5 patients with AA transforming into myelodysplastic syndrome (MDS) or acute leukemia (AL). Cytogenetic and morphological specimens of the latter's bone marrow were studied retrospectively using fluorescent in situ hybridization (FISH) with DNA probes for detection of monosomia 7 and deletion 7q.
Clonal chromosomal aberrations were detected in 4 out of 28 patients. Further examinations revealed no aberrations. Clonal diseases developed in 7 (4.5%) of 155 patients. In 2 patients the disease transformed into paroxysmal nocturnal hemoglobinuria, 5 (3.2%) patients developed variants of MDS and AL. Monosomia 7 or deletion 7q were diagnosed in 3 cases of MDS/AL. In retrospective study of bone marrow specimens of patients with transformation in MDS/AL with monosomia 7, FISH recognized a small elevation over control values in 2 cases.
Stable clonal chromosomal aberrations are not characteristic of AA. Some AA patients with subsequent MDS/AL may have minor neoplastic clone in the disease onset.
评估再生障碍性贫血（AA）患者骨髓细胞中染色体畸变的可检测性及特征。
该试验纳入了1987 - 2002年收治于血液学研究中心的155例AA患者。对58例AA患者以及5例由AA转变为骨髓增生异常综合征（MDS）或急性白血病（AL）的患者进行了G显带细胞遗传学研究。使用针对7号单体和7q缺失检测的DNA探针，通过荧光原位杂交（FISH）对后者的骨髓细胞遗传学和形态学标本进行回顾性研究。
28例患者中有4例检测到克隆性染色体畸变。进一步检查未发现其他畸变。155例患者中有7例（4.5%）发生了克隆性疾病。2例患者疾病转变为阵发性夜间血红蛋白尿，5例（3.2%）患者发展为MDS和AL的变异型。3例MDS/AL患者诊断为7号单体或7q缺失。在对伴有7号单体且转变为MDS/AL患者的骨髓标本进行回顾性研究时，FISH检测发现2例患者的值略高于对照值。
稳定的克隆性染色体畸变并非AA的特征。一些后续发展为MDS/AL的AA患者在疾病初发时可能存在微小的肿瘤克隆。
