Taniwaki M, Horiike S, Inazawa J, Nishida K, Misawa S, Takino T, Abe T
Jpn J Clin Oncol. 1987 Jun;17(2):141-50.
Cytogenetic studies were performed on a group of 32 patients with myelodysplastic syndrome (MDS). Five patients had refractory anemia (RA), four RA with ring sideroblasts (RARS), nine RA with excess blasts (RAEB), eight RAEB 'in transformation' (RAEB-T), three chronic myelomonocytic leukemia (CMML) and three secondary MDS (SMDS). Two patients in the SMDS group had been treated with alkylating agents for lung cancer and polycythemia vera, respectively. The other had been exposed to thorotrast. Chromosome analyses were performed with Q and G bandings on bone marrow cells incubated for 24 hr. A clonal chromosomal abnormality was observed in the marrow cells from 19 of the 32 patients (59%). Chromosomal abnormalities of nos. 5 and/or 7 were found in five patients, and were probably specific for RAEB-T and SMDS. Among the twelve patients with solely abnormal metaphases (AA), eight (67%) progressed to acute leukemia, a higher proportion than the three from the 13 patients (23%) with solely normal metaphases (NN) (P less than 0.05). One of the seven patients (14%) with both normal and abnormal metaphases (AN) developed acute leukemia (AA v. AN, P less than 0.03). In only two of the 12 patients who progressed to acute leukemia (17%), was complete remission achieved. The median survival time was only 4.0 months for patients with karyotype AA compared with 18.0 months for AN and 24.0 months for NN (AA v. AN, P less than 0.05, AA v. NN, P less than 0.05). The absence of cytogenetically normal cells indicated a poor prognosis with frequent progression to acute leukemia which is resistant to chemotherapy. Progression to acute leukemia depended not only on chromosomal abnormalities but also on morphological subtype classified according to French-American-British co-operative group criteria. Morphological findings and karyotype combined gave a good indication of the outcome for patients with MDS.
对一组32例骨髓增生异常综合征（MDS）患者进行了细胞遗传学研究。5例为难治性贫血（RA），4例为环形铁粒幼细胞性难治性贫血（RARS），9例为原始细胞增多的难治性贫血（RAEB），8例为转化中的RAEB（RAEB-T），3例为慢性粒单核细胞白血病（CMML），3例为继发性MDS（SMDS）。SMDS组中有2例患者分别因肺癌和真性红细胞增多症接受过烷化剂治疗。另一例曾接触过钍造影剂。对培养24小时的骨髓细胞进行Q带和G带染色体分析。32例患者中有19例（59%）的骨髓细胞中观察到克隆性染色体异常。5例患者发现有5号和/或7号染色体异常，这可能是RAEB-T和SMDS所特有的。在12例仅中期相异常（AA）的患者中，8例（67%）进展为急性白血病，这一比例高于13例仅中期相正常（NN）的患者中的3例（23%）（P<0.05）。7例中期相正常和异常并存（AN）的患者中有1例（14%）发生急性白血病（AA与AN相比，P<0.03）。进展为急性白血病的12例患者中只有2例（17%）获得完全缓解。核型为AA的患者中位生存时间仅为4.0个月，而AN为18.0个月，NN为24.0个月（AA与AN相比，P<0.05，AA与NN相比，P<0.05）。细胞遗传学上正常细胞的缺乏表明预后不良，常进展为对化疗耐药的急性白血病。进展为急性白血病不仅取决于染色体异常，还取决于根据法美英协作组标准分类的形态学亚型。形态学发现和核型相结合能很好地提示MDS患者的预后。
