Genetic analysis of splenic lymphoma with villous lymphocytes: a Groupe Français d'Hématologie Cellulaire (GFHC) study
Genetic analysis of splenic lymphoma with villous lymphocytes: a Groupe Français d'Hématologie Cellulaire (GFHC) study
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DOI：
10.1046/j.1365-2141.1998.00764.x
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发表时间：
1998-06
影响因子：
6.5
通讯作者：
X. Troussard;L. Mauvieux;I. Radford‐Weiss;K. Rack;F. Valensi;R. Garand;M. Vekemans;G. Flandrin;E. Macintyre
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文献类型：
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作者：
X. Troussard;L. Mauvieux;I. Radford‐Weiss;K. Rack;F. Valensi;R. Garand;M. Vekemans;G. Flandrin;E. Macintyre
为了描述脾淋巴瘤伴绒毛淋巴细胞（SLVL）的遗传多样性，我们对76例主要根据形态学标准诊断的病例进行了CCND 1表达和BCL 1-IgH PCR重排的细胞遗传学和分子分析。在19/44例（43%）病例中检测到细胞遗传学异常，包括16/25例（64%）绝对淋巴细胞增多症病例。异常包括染色体14 q32（9/19，47%），主要是t（11;14）（q13;q32）（5/19，26%），染色体3（26%），主要是3q，染色体17 p（26%）和三体12（3/19，16%），因此提示致病多样性。CCND 1在8/30例（27%）病例中表达，包括所有t（11;14）病例、5/10例（50%）CD 5阳性病例和3/20例（15%）CD 5阴性病例。3例CCND 1阳性SLVL表现出与套细胞淋巴瘤（MCL）相似的免疫表型特征，但大多数在CD 5阴性或CD 23阳性方面存在差异。BCL 1-IgH重排仅见于1/62例（2%）病例，而t（11;14）病例中无一例，这表明FISH断裂点与BCL 1/MTC的着丝粒和端粒均相同，表明如果t（11;14）SLVL中存在基因组簇集，则其与MCL不同。虽然CCND 1表达的SLVL更常见的是淋巴细胞增多，但它们并没有表现出比阴性对照更积极的临床过程，这表明在没有其他标准的情况下，CCND 1表达或t（11;14）的检测不足以改变诊断分类。
In order to characterize the genetic diversity in splenic lymphoma with villous lymphocytes (SLVL), we have undertaken cytogenetic and molecular analyses of CCND1 expression and BCL1‐IgH PCR rearrangement in 76 cases diagnosed predominantly on morphological criteria. Cytogenetic abnormalities were detected in 19/44 (43%) of cases, including in 16/25 (64%) of cases with an absolute lymphocytosis. Abnormalities included those involving chromosome 14q32 (9/19, 47%), predominantly t(11;14)(q13;q32) (5/19, 26%), chromosome 3 (26%), predominantly 3q, chromosome 17p (26%) and trisomy 12 (3/19, 16%) and were thus suggestive of pathogenetic diversity. CCND1 was expressed in 8/30 (27%) cases, including in all t(11;14) cases, 5/10 (50%) CD5‐positive cases and also in 3/20 (15%) CD5‐negative cases. Three CCND1‐positive SLVL demonstrated immunophenotypic features similar to mantle cell lymphoma (MCL) but the majority differed in their CD5 negativity or CD23 positivity. BCL1‐IgH rearrangement was only seen in 1/62 (2%) of cases overall and in none of the t(11;14) cases, which demonstrated FISH breakpoints both centromeric and telomeric to the BCL1/MTC, suggesting that, if genomic clustering exists in t(11;14) SLVL, it differs from MCL. Although CCND1 expressing SLVL more commonly had marked lymphocytosis, they did not demonstrate a more aggressive clinical course than their negative counterparts, demonstrating that the detection of CCND1 expression or of a t(11;14) should not suffice to alter diagnostic classification in the absence of other criteria.