Chromosome pattern in juvenile chronic myelogenous leukemia, myelodysplastic syndrome, and acute leukemia associated with neurofibromatosis.
Chromosome pattern in juvenile chronic myelogenous leukemia, myelodysplastic syndrome, and acute leukemia associated with neurofibromatosis.
复制标题
青少年慢性粒细胞白血病、骨髓增生异常综合征和与神经纤维瘤病相关的急性白血病的染色体模式。
作者：
Y. Kaneko;N. Maseki;M. Sakurai;A. Shibuya;T. Shinohara;T. Fujimoto;H. Kanno;A. Nishikawa
我们研究了4例神经纤维瘤病（NF）白血病患者骨髓细胞的染色体。1例儿童慢性粒细胞白血病（JCML）慢性期患者的二倍体核型正常。当白血病发展到加速期时，她的细胞带有46，XX，-7，+der（7）t（3;7）（q21;p22）;这些异常导致部分7 p缺失。在另一个患有JCML的患者中，处于加速期的BM细胞具有45，XY，-7。化疗后骨髓中7号单体异常细胞消失，但在化疗后期又出现。另一名患者发生难治性贫血，伴有转化中的原始细胞过多（RAEB-T），其细胞具有46，XX，-6，+r（6）（p23？q21？）;这些异常导致部分6p和6 q缺失。另一名ANLL患者的细胞为45，XX，-7。我们的研究结果和对其他9例患者数据的回顾表明，慢性期NF伴JCML患者的BM细胞没有显微镜可检测到的染色体变化，当JCML演变为加速期或急变期时，出现染色体缺失的细胞。因此，某些染色体如6号、7号等的全部或部分缺失，可能是朝着JCML细胞进化或NF患者中新发急性白血病发展的重要一步。
We studied chromosomes of BM cells from four neurofibromatosis (NF) patients with leukemia. One patient had a normal diploid karyotype in the chronic phase of juvenile chronic myelogenous leukemia (JCML). When the the leukemia evolved into the accelerated phase, she had cells with 46,XX,-7,+der(7)t(3;7)(q21;p22); the abnormalities resulted in a partial 7p deletion. In another patient with JCML, BM cells in the accelerated phase had 45,XY,-7. The abnormal cells with monosomy 7 disappeared from the BM after chemotherapy but reappeared later in the course. Another patient developed refractory anemia with excess of blasts in transformation (RAEB-T) and had cells with 46,XX,-6,+r(6)(p23?q21?); the abnormalities resulted in partial 6p and 6q deletions. The other patient with ANLL had cells with 45,XX,-7. Our findings and review of data on nine other patients suggest that BM cells of NF patients with JCML in chronic phase have no microscopically detectable chromosome changes and that cells with chromosomal deletion emerge when JCML evolve into the accelerated or blast phase. Thus, deletion of the whole or part of certain chromosomes, such as chromosomes 6, 7, etc., may be an important step towards the evolution of JCML cells or the development of de novo acute leukemias in NF patients.