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淋巴结细针穿刺抽吸物中淋巴瘤的复发性染色体异常

Recurrent chromosomal abnormalities in lymphomas in fine needle aspirates of lymph node.

作者信息

Trcić Ruzica Lasan, Sustercić Dunja, Kuspilić Maja, Jelić-Puskarić Biljana, Fabijanić Iris, Kardum-Skelin Ika

机构信息

Cytogenetic Laboratory, Department of Pediatrics, Zagreb University Hospital Center, Zagreb, Croatia.

出版信息

Coll Antropol. 2010 Jun;34(2):387-93.

Abstract

The detection of specific chromosomal abnormalities is important in the diagnostic workup of aggressive lymphomas, giving its impact on the treatment strategies and prognosis. This has been accomplished by using the fluorescent in situ hybridisation method (FISH) performed on fine needle aspiration (FNA) specimens what is attractive in the diagnosis of lymphoma in the comparation with other methods for collecting samples. The cytogenetic analyses were performed in series of 80 patients with lymphoma (43 women and 37 men, median age 48, range 3-90 years). In our series 89.0% (71) of the specimens yield sufficient numbers of analysable metaphases, comprising 63 non-Hodgkin lymphomas (NHL) and 8 examples of Hodgkin disease (HD). Among 71 successful karyotyped specimens 58 (82.0%) showed clonal karyotypic abnormalities. Numerical changes in 4, structural changes in 20 and both and numerical with structural changes in 30 of 54 NHL cases. Trisomies 3, 7, 8, 12, 18, X and monosomies 1 were most common numerical abnormalities. The NHL cases were typically characterised by structural rather than numerical aberrations with chromosome arms 1p/q, 3p/q, 6q, 11q, 17p and 14q most frequently involved. The expected translocation (14;18) (q32;q21) in 8 and t(8;14) (q24;q34) in 6 cases, both translocations at the same time in three cases, complex rearrangement with chromosome 8, 14, and 18, namely t(8;14;18) (q24;q32;q21) in one case, t(11;14) (q13;q32) in three and one case with translocation 14q32 with chromosome 3q27, 6q and 14q32 were found. In 28 of 54 (52%) NHL cases t(14;v) was present. Four abnormal clones detected in Hodgkin disease were typically consisted of a small percentage of metaphases. The use of FISH method enable the detection of loss or gain of genetic material and reveal rearrangements unsuspected by conventional cytogenetics in 34 (48.0%) cases.

摘要

特定染色体异常的检测在侵袭性淋巴瘤的诊断检查中很重要,因为其对治疗策略和预后有影响。这是通过对细针穿刺(FNA)标本进行荧光原位杂交方法(FISH)来实现的,与其他采集样本的方法相比,该方法在淋巴瘤诊断中颇具吸引力。对80例淋巴瘤患者(43名女性和37名男性,中位年龄48岁,年龄范围3 - 90岁)进行了细胞遗传学分析。在我们的研究系列中,89.0%(71例)标本产生了足够数量的可分析中期分裂相,其中包括63例非霍奇金淋巴瘤(NHL)和8例霍奇金病(HD)。在71例成功进行核型分析的标本中,58例(82.0%)显示出克隆性核型异常。54例NHL病例中,4例有数量变化,20例有结构变化,30例既有数量变化又有结构变化。三体3、7、8、12、18、X以及单体1是最常见的数量异常。NHL病例的典型特征是结构畸变而非数量畸变,1p/q、3p/q、6q、11q、17p和14q染色体臂最常受累。8例出现预期的易位(14;18)(q32;q21),6例出现t(8;14)(q24;q34),3例同时出现这两种易位,1例出现涉及染色体8、14和18的复杂重排,即t(8;14;18)(q24;q32;q21),3例出现t(11;14)(q13;q32),1例出现14q32与染色体3q27、6q和14q32的易位。54例NHL病例中有28例(52%)存在t(14;v)。在霍奇金病中检测到的4个异常克隆通常由一小部分中期分裂相组成。FISH方法的使用能够检测到遗传物质的缺失或增加,并在34例(48.0%)病例中揭示出传统细胞遗传学未怀疑到的重排。

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