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多发性骨髓瘤中的1号染色体异常。

Chromosome 1 abnormalities in multiple myeloma.

作者信息

Marzin Youna, Jamet Déborah, Douet-Guilbert Nathalie, Morel Frédéric, Le Bris Marie-Josée, Morice Patrick, Abgrall Jean-François, Berthou Christian, De Braekeleer Marc

机构信息

Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

出版信息

Anticancer Res. 2006 Mar-Apr;26(2A):953-9.

PMID:16619492
Abstract

Multiple myeloma (MM) is a malignancy of the terminally-differentiated B cells and accounts for 10% of all hematological malignancies. Chromosome 1 aberrations are frequently described, the short arm being preferentially involved in deletions and the long arm in gains. The abnormalities were identified in the bone marrow of 37 MM patients by conventional cytogenetics. Fluorescence in situ hybridization (FISH) was used to confirm the presence of the abnormalities and to better characterize them. Chromosome 1 abnormalities were grouped into 4 categories: balanced translocations, deletions, amplifications and jumping translocations (JT). Breakpoints involved in balanced translocations were randomly distributed. The smallest region of overlap for deletions was 1p11 --> 1p21 (present in 27% of the patients) and for gains 1q31 --> 1qter (present in 54% of the patients). The whole long arm was found to be the donor segment for the majority of patients with JT, the most frequent recipients being chromosomes 16 and 19. Our results share some similarities with those obtained for 143 published patients studied by FISH. Band 1p21 was found to be frequently deleted, leading to the assumption that a 1p deletion could lead to hemizygosity of at least 1 tumor suppressor gene. Two regions of 1q showed preferential gains: q12 to q22 and q31 to q42; these amplifications could induce the overexpression of 1 or more oncogenes. In conclusion, our results confirm that chromosome 1 abnormalities play an important role in the pathogenesis of multiple myeloma.

摘要

多发性骨髓瘤(MM)是终末分化B细胞的恶性肿瘤,占所有血液系统恶性肿瘤的10%。1号染色体畸变经常被报道,其中短臂优先发生缺失,长臂则优先发生增益。通过传统细胞遗传学方法在37例MM患者的骨髓中发现了这些异常。荧光原位杂交(FISH)用于确认异常的存在并对其进行更好的特征描述。1号染色体异常分为4类:平衡易位、缺失、扩增和跳跃易位(JT)。平衡易位涉及的断点随机分布。缺失的最小重叠区域为1p11→1p21(27%的患者存在),增益的最小重叠区域为1q31→1qter(5

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