Sander Birgitta, Wallblom Ann, Ekroth Andrea, Porwit Anna, Kimby Eva
Department of Laboratory Medicine, Division of Pathology, Karolinska Institutet and Karolinska University Hospital Huddinge, Stockholm, Sweden.
Leuk Lymphoma. 2007 Jul;48(7):1344-52. doi: 10.1080/10428190701402903.
Mantle cell lymphoma is a clinically heterogeneous disease, where further elucidation of pathogenetic mechanisms and better prognostic information is required. We evaluated genetic aberrations by interphase FISH on tissue sections or cytological material in 38 samples from 30 MCL patients, including 5 cases with cyclin D1 3'UTR low, which previously has been associated to unfavourable prognosis. The findings have been related to proliferation and clinical outcome. All but one of MCL showed t(11:14) translocation and in 22/30 samples taken at diagnosis or first relapse, one or several cytogenetic changes were detected; 11 deletions of ATM, 13 p53 deletions, 8 numerical c-myc-aberrations and 6 delp16. All but one MCL with low cyclin D1 3'UTR had additional cytogenetic changes, however no particular genetic change was strictly associated with this MCL variant. One fourth of MCL had none of the investigated additional aberrations and these tumours were in general less proliferative and some of these patients had a very long survival.
套细胞淋巴瘤是一种临床异质性疾病，需要进一步阐明其发病机制并获取更好的预后信息。我们通过间期荧光原位杂交技术（FISH）对30例套细胞淋巴瘤（MCL）患者的38份组织切片或细胞学样本进行了基因畸变评估，其中包括5例细胞周期蛋白D1 3'非翻译区（3'UTR）低表达的病例，该情况此前被认为与不良预后相关。研究结果与增殖情况及临床结局相关。除1例患者外，所有MCL均显示t(11;14)易位，在诊断或首次复发时采集的22/30份样本中，检测到一种或几种细胞遗传学改变；11例ATM缺失、13例p53缺失、8例c-myc数量畸变以及6例16p缺失。除1例细胞周期蛋白D1 3'UTR低表达的MCL外，其他病例均有额外的细胞遗传学改变，然而没有特定的基因改变与这种MCL变异型严格相关。四分之一的MCL没有所研究的其他畸变，这些肿瘤总体增殖性较低，其中一些患者生存期很长。
