Feng B Z, Lei J L, Lin Z X, Shao Z H, Wang Q
Institute of Hematology and Blood Disease, Hospital Chinese Academy of Medical Sciences, Tianjin.
Yi Chuan Xue Bao. 1998 Apr;25(2):103-11.
After studying of familial leukemias, Myelodysplastic Syndrome (MDS) and aplastic anemia (AA), we observed and analysed bone marrow (BM) cells hematologically and molecular-cytogenetically in 36 persons who are first degree relatives (FDRs) of patients with acute leukemias (AL), MDS and AA. The peripheral blood (PB) lymphocyte chromosome fragility sensitive to folic acid and unstability was also analysed in 18 FDRs. The abnormal BM megakaryocystic/erythroid cellularity and the rearrangement of c-erbB were found in 66%-86.1% of parents and siblings of patients. The associations of dysplastic megakaryopoiesis, including the presence of lymphoid small megakaryocytes, with the chromosomal monosomy or/and the rearrangement/amplification of C-erbB, were found in a few parents and siblings. These results were consistent with those of MDS, Fanconi Anemia (FA) and AL. The normal karyotype and SCD positive of BM cells and PB lymphocytes, and PB lymphocyte chromosomal fragility and unstability were found in most of patients' parents, while familial chromosomal monosomy of BM cells and PB lymphocyte chromosomal fragility were found in parents and siblings of familial leukemia patients. Based on the studies of a large family with 7 cases of acute erythroleukamia and relative myeloleukemias in three consecutive generations and a family with 3 CAA and 1 AML, the rearrangement of c-erbB might be inherited. The rearrangement/amplification of c-erbB and its PCR detected results could be the indicators of gene diagnosis of preleukemia and might be useful in genetic conselling of leukemias. The common origin of AL, MDS and AA was discussed.
在对家族性白血病、骨髓增生异常综合征（MDS）和再生障碍性贫血（AA）进行研究后，我们对36名急性白血病（AL）、MDS和AA患者的一级亲属（FDR）的骨髓（BM）细胞进行了血液学和分子细胞遗传学观察与分析。还对18名FDR的外周血（PB）淋巴细胞对叶酸敏感的染色体脆性和不稳定性进行了分析。在患者的66%-86.1%的父母和兄弟姐妹中发现了异常的骨髓巨核细胞囊肿/红细胞生成以及c-erbB重排。在少数父母和兄弟姐妹中发现了发育异常的巨核细胞生成，包括淋巴样小巨核细胞的存在，与染色体单体性或/和c-erbB重排/扩增之间的关联。这些结果与MDS、范可尼贫血（FA）和AL的结果一致。在大多数患者父母中发现骨髓细胞和外周血淋巴细胞的核型正常及SCD阳性，而在家族性白血病患者的父母和兄弟姐妹中发现骨髓细胞的家族性染色体单体性和外周血淋巴细胞染色体脆性。基于对一个有7例急性红白血病及三代相关骨髓白血病的大家庭和一个有3例CAA和1例AML的家庭的研究，c-erbB重排可能是可遗传的。c-erbB的重排/扩增及其PCR检测结果可能是白血病前期基因诊断的指标，对白血病的遗传咨询可能有用。本文还讨论了AL、MDS和AA的共同起源。
