Rubnitz J E, Camitta B M, Mahmoud H, Raimondi S C, Carroll A J, Borowitz M J, Shuster J J, Link M P, Pullen D J, Downing J R, Behm F G, Pui C H
Department of Hematology/Oncology, St. Jude Children's Research Hospital, the University of Tennessee College of Medicine, Memphis 38105-2794, USA.
J Clin Oncol. 1999 Jan;17(1):191-6. doi: 10.1200/JCO.1999.17.1.191.
To determine the molecular characteristics, clinical features, and treatment outcomes of children with acute lymphoblastic leukemia (ALL) and the t(11;19)(q23,p13.3) translocation.
A retrospective analysis of leukemic cell karyotypes obtained from patients with new diagnoses of ALL who were treated at St. Jude Children's Research Hospital or by the Pediatric Oncology Group was performed to identify cases with the t(11;19)(q23;p13.3) translocation. Molecular analyses were performed on these cases to determine the status of the MLL gene and the presence of the MLL-ENL fusion transcript.
Among 3,578 patients with ALL and successful cytogenetic analysis, we identified 35 patients with the t(11;19)(q23;p13.3) translocation: 13 infants and 11 older children had B-precursor leukemia, whereas 11 patients had a T-cell phenotype. Although all of the cases examined had MLL rearrangements and MLL-ENL fusion transcripts, outcome varied according to age and immunophenotype. Among B-precursor cases, only two of the 13 infants remain in complete remission, compared with six of the 11 older children. Most strikingly, no relapses have occurred among B-precursor patients 1 to 9 years of age or among T-cell patients.
Although MLL gene rearrangements are generally associated with a dismal outcome in ALL, two distinct subsets with MLL-ENL fusions have an excellent prognosis. Our results suggest that patients with this genetic abnormality who have T-cell ALL or are 1 to 9 years of age should not be considered candidates for hematopoietic stem-cell transplantation during their first remission.
确定患有急性淋巴细胞白血病（ALL）且有t(11;19)(q23,p13.3)易位的儿童的分子特征、临床特征及治疗结果。
对在圣裘德儿童研究医院或由儿科肿瘤协作组治疗的初诊ALL患者的白血病细胞染色体核型进行回顾性分析，以确定有t(11;19)(q23;p13.3)易位的病例。对这些病例进行分子分析，以确定MLL基因状态及MLL-ENL融合转录本的存在情况。
在3578例ALL且细胞遗传学分析成功的患者中，我们确定了35例有t(11;19)(q23;p13.3)易位的患者：13例婴儿和11例大龄儿童患有B前体白血病，而11例患者具有T细胞表型。尽管所有检测病例均有MLL重排及MLL-ENL融合转录本，但结果因年龄和免疫表型而异。在B前体病例中，13例婴儿中只有2例仍处于完全缓解状态，而11例大龄儿童中有6例。最显著的是，1至9岁的B前体患者或T细胞患者均未发生复发。
尽管MLL基因重排在ALL中通常与不良预后相关，但两个具有MLL-ENL融合的不同亚组预后极佳。我们的结果表明，患有这种基因异常且为T细胞ALL或年龄在1至9岁的患者在首次缓解期不应被视为造血干细胞移植的候选者。
