Mahmoud H H, Ridge S A, Behm F G, Pui C H, Ford A M, Raimondi S C, Greaves M F
Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, TN 38101.
Med Pediatr Oncol. 1995 Feb;24(2):77-81. doi: 10.1002/mpo.2950240203.
We report detailed immunological, cytogenetic and molecular evidence for complete identity of the leukemic cell populations in monozygotic female twins with concordant leukemia diagnosed at two months of age. Both infants had early pre-B acute lymphoblastic leukemia with the (11;19)(q23;p13) chromosomal translocation. A common clonal origin of leukemia in these infants was suggested by the finding of identical oligoclonal heavy chain immunoglobulin gene rearrangements. Leukemic cell DNA was examined for 11q23 rearrangements by Southern blotting and restriction fragments of identical size were found in the two cases, in contrast to the diversity of rearrangements observed in other unrelated and nontwinned control infants with t(11;19)(q23;p13). Similar restriction fragments were absent in blood mononuclear DNA from both parents, liver tissue from one twin and remission bone marrow of the other, indicating that the 11q23 rearrangement was acquired and not inherited as a chromosomal abnormality or polymorphism. These findings provide a definitive evidence for intrauterine single cell origin, with twin to twin transmission, of concordant leukemia in this infant twin pair.
我们报告了详细的免疫学、细胞遗传学和分子学证据，证明了一对同卵双胞胎女性在两个月大时被诊断出患一致白血病，其白血病细胞群体完全相同。两名婴儿均患有早期前B细胞急性淋巴细胞白血病，并伴有(11;19)(q23;p13)染色体易位。在这两名婴儿中发现了相同的寡克隆重链免疫球蛋白基因重排，提示白血病起源于共同的克隆。通过Southern印迹法检测白血病细胞DNA的11q23重排，发现两例中存在大小相同的限制性片段，这与在其他患有t(11;19)(q23;p13)的无关非双胞胎对照婴儿中观察到的重排多样性形成对比。在双亲的血液单核细胞DNA、其中一名双胞胎的肝脏组织以及另一名双胞胎的缓解期骨髓中均未发现类似的限制性片段，这表明11q23重排是后天获得的，而非作为染色体异常或多态性遗传而来。这些发现为这对婴儿双胞胎中一致白血病的宫内单细胞起源及双胞胎间传播提供了确凿证据。
