Follicular lymphoma with trisomy 18 exhibiting loss of BCL-2 expression on transformation to a large cell lymphoma
Follicular lymphoma with trisomy 18 exhibiting loss of BCL-2 expression on transformation to a large cell lymphoma
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18 三体性滤泡性淋巴瘤在转化为大细胞淋巴瘤时表现出 BCL-2 表达缺失
DOI：
10.1136/jcp.2006.043034
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发表时间：
2006
影响因子：
3.4
通讯作者：
J. Samol
中科院分区：
文献类型：
--
作者：
N. Masir;R. Ventura;Margaret Jones;T. Marafioti;D. Mason;J. Samol
滤泡性淋巴瘤中BCL-2的过度表达通常由t（14;18）染色体易位引起。不携带t（14;18）易位但BCL-2蛋白阳性的滤泡性淋巴瘤可能有其他细胞遗传学异常，包括BCL-2扩增、涉及IGK/IGL位点的相互易位1和18.2，3三体
滤泡性淋巴瘤转化为弥漫性大B细胞淋巴瘤通常与较差的预后相关。4，5然而，文献中尚未对BCL-2阳性滤泡性淋巴瘤转化为弥漫性大B细胞淋巴瘤的BCL-2基因和蛋白状态进行广泛研究。
我们描述了一个滤泡性淋巴瘤携带三体18（没有涉及BCL-2基因座易位的证据），与BCL-2蛋白强表达。然而，同一活检样本包含一个弥漫性大B细胞淋巴瘤区域，其中BCL-2蛋白缺失，尽管保留了相同的遗传异常。据我们所知，还没有其他报告的BCL-2蛋白表达在滤泡性淋巴瘤，但不再是可检测的转化后。
一位女性病人提出了一个局部扩大颏下淋巴结。在她的血细胞计数和分期检查中未检测到显著异常。
切除活组织检查显示一个扩大和消失的淋巴结。从形态学和表型可以鉴别出三个彼此相邻的不同区域（图1A、B）。一个区域包含典型滤泡性淋巴瘤，其中肿瘤性滤泡包含中心细胞与少量中心母细胞的混合物，与2级滤泡性淋巴瘤一致。第二个区域显示出较大的卵泡，但分界不太清楚，尽管它们的细胞组成与第一个区域相似。第三个较小的肿瘤区域由弥漫性...
Over-expression of BCL-2 in follicular lymphoma is commonly caused by a t(14;18) chromosomal translocation. Follicular lymphomas that do not carry the t(14;18) translocation but are positive for BCL-2 protein may have other cytogenetic abnormalities, including BCL-2 amplification, reciprocal translocations involving the IGK/IGL loci1 and trisomy 18.2,3
Transformation of follicular lymphoma to diffuse large B cell lymphoma is generally associated with a poorer prognosis.4,5 However, there have been no extensive studies in the literature of the BCL-2 gene and protein status in transformed diffuse large B cell lymphoma arising from BCL-2-positive follicular lymphoma.
We describe a case of follicular lymphoma carrying trisomy 18 (without evidence of translocations involving the BCL-2 locus), associated with strong BCL-2 protein expression. However, the same biopsy sample contained an area of diffuse large B cell lymphoma in which BCL-2 protein was absent despite retaining the same genetic abnormality. As far as we know, there have been no other reports of BCL-2 protein that is expressed in follicular lymphoma but that ceases to be detectable after transformation.
A female patient presented with a localised enlargement of a submental lymph node. No significant abnormalities were detected in her blood count and in the staging investigations.
Excision biopsy revealed an enlarged and effaced lymph node. Three distinct areas, lying adjacent to each other (fig 1A,B), could be identified from their morphology and phenotype. One area comprised a classical follicular lymphoma, where the neoplastic follicles contained an admixture of centrocytes with smaller numbers of centroblasts, consistent with a grade 2 follicular lymphoma. The second area showed larger follicles that were less clearly demarcated, although their cellular composition resembled that seen in the first area. A third smaller area of the tumour consisted of diffuse …