Gindina T L, Mamaev N N, Zubaĭdullina S R, Kondakova E V
Ter Arkh. 2010;82(11):63-7.
To discuss the specific features of the cytogenetics and clinical manifestations of acute lymphoblastic leukemias (ALL) with balanced and unbalanced translocations (1;19)(q23; p13).
Bone marrow cells with differential staining of chromosomes into G-segments underwent cytogenetic study that was added by fluorescence in situ hybridization in 2 cases. The karyotypes of 3 patients with ALL previously untreated at 5, 18, and 23 years of age were studied.
Balanced translocations (1;19)(q23; p13) were found in 2 of the examinees while unbalanced translocation was noted in 1 case. Modal chromosomal classes were 46, 47, and 55-65 if the cells had additional structural (+1q, 6q-, etc.) and numerical chromosomal abnormalities (nonrandom trisomies and tetrasomies of chromosomes of different pairs).
Translocation (1;19)(q23; p13) is characteristic for patients of different age groups, mainly for those with pre-B cell ALL. It is commonly concurrent with other karyotypic changes, namely, 6q deletion, 1q trisomy, and high hyperdiploidy.
探讨具有平衡易位和不平衡易位(1;19)(q23;p13)的急性淋巴细胞白血病(ALL)的细胞遗传学特征及临床表现。
对经染色体G显带差异染色的骨髓细胞进行细胞遗传学研究,并对2例患者加做荧光原位杂交。研究了3例年龄分别为5岁、18岁和23岁且未经治疗的ALL患者的核型。
2例受检者发现平衡易位(1;19)(q23;p13),1例发现不平衡易位。如果细胞存在额外的结构异常(+1q、6q-等)和数目异常(不同对染色体的非随机三体和四体),核型类别为46、47和55 - 65。
易位(1;19)(q23;p13)在不同年龄组患者中具有特征性,主要见于前B细胞ALL患者。它常与其他核型改变同时出现,即6q缺失、1q三体和高超二倍体。