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多发性骨髓瘤中的der(16)t(1;16)(q10;p10):一种新的非随机异常,常与伯基特型易位相关。

Der(16)t(1;16)(q10;p10) in multiple myeloma: a new non-random abnormality that is frequently associated with Burkitt's-type translocations.

作者信息

Mugneret F, Sidaner I, Favre B, Manone L, Maynadié M, Caillot D, Solary E

机构信息

Laboratory of Cytogenetics, Faculty of Medicine, C.H.U. Le Bocage, Dijon, France.

出版信息

Leukemia. 1995 Feb;9(2):277-81.

PMID:7869764
Abstract

Aneuploidy is a frequent feature in multiple myeloma. Cytogenetic analyses have shown that a 14q+ chromosome resulting from either a t(8;14)(q24;q32) or a t(11;14)(q13;q32) was the most consistent abnormality but no specific chromosomal aberration has been identified in this disease. Bone marrow cells from 121 consecutive patients with multiple myeloma were analyzed cytogenetically by standard banding techniques including RHG, GTG and CBG banding. Cells were cultured for 24-96 h in the presence or in the absence of interleukin-6. Clonal abnormalities were detected in 41 of the 121 patients (34%). A der(16)t(1;16)(q10;p10) abnormality was identified in nine of these 41 patients (22%). Der(16) was identified at diagnosis in five patients, during disease progression in two additional patients, and at the time of a relapse in the two last cases. The t(1;15)(q10;p10) translocation was always unbalanced, resulting in a monosomy 16q in all cases. The CBG banding did not demonstrate dicentric chromosomes and the whole chromosome painting confirmed the der(16). A large number of other chromosomal abnormalities were associated with der(16), including chromosomal rearrangements involving the 8q24 band in five cases. Four of these five cases were Burkitt's-type translocations. This observation suggests that der(16)t(1;16)(q10;p10) could be one of the most frequent chromosomal abnormalities that can be identified in multiple myeloma cells.

摘要

非整倍体是多发性骨髓瘤的常见特征。细胞遗传学分析表明,由t(8;14)(q24;q32)或t(11;14)(q13;q32)导致的14q+染色体是最一致的异常情况,但在该疾病中尚未发现特定的染色体畸变。采用包括RHG、GTG和CBG显带在内的标准显带技术对121例连续的多发性骨髓瘤患者的骨髓细胞进行了细胞遗传学分析。细胞在有或无白细胞介素-6的情况下培养24 - 96小时。在121例患者中的41例(34%)检测到克隆性异常。在这41例患者中的9例(22%)发现了der(16)t(1;16)(q10;p10)异常。在5例患者诊断时发现了der(16),另外2例在疾病进展过程中发现,最后2例在复发时发现。t(1;15)(q10;p10)易位总是不平衡的,在所有病例中导致16q单体。CBG显带未显示双着丝粒染色体,全染色体涂染证实了der(16)。大量其他染色体异常与der(16)相关,包括5例涉及8q24带的染色体重排。这5例中的4例是伯基特型易位。该观察结果表明,der(16)t(1;16)(q10;p10)可能是在多发性骨髓瘤细胞中能够识别的最常见的染色体异常之一。

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