Li Lin, Gupta Shiphali, Bashir Tayyaba, Koduru Prasad R, Brody Judith, Allen Steven L
Department of Pathology, North Shore University Hospital and New York University School of Medicine, Manhasset, NY 11030, USA.
Cancer Genet Cytogenet. 2006 Oct 15;170(2):140-6. doi: 10.1016/j.cancergencyto.2006.05.015.
Follicular lymphoma (FL) is the most common indolent or low-grade non-Hodgkin lymphoma (NHL). Histologic transformation to high-grade lymphoma, generally to diffuse large B-cell lymphoma, occurs in 25-35% of cases. Although t(14;18), the cytogenetic hallmark of FL, has been found in approximately 85% of these cases, multiple secondary cytogenetic and molecular genetic changes underlie the transformation process. We report the case of a 58-year-old patient who presented with stage IVA, grade 2 FL that subsequently transformed to Burkitt lymphoma. Multiple chromosomal aberrations, including three novel translocations, were observed related to this transformation. Inversion (1)(p36.3q12) and t(3;14;18)(p23;q32;q21) occurred prior to transformation and may have contributed to the transformation process. A t(1;11)(q25;q13) was acquired simultaneously with t(8;22) and, in conjunction with other chromosomal abnormalities, coincided with an extremely aggressive clinical course. The frequent breakage of 1q observed in this case suggests that the region harbors important genomic signals for the transformation of FL.
滤泡性淋巴瘤(FL)是最常见的惰性或低级别非霍奇金淋巴瘤(NHL)。25% - 35%的病例会发生组织学转化为高级别淋巴瘤,通常是转化为弥漫性大B细胞淋巴瘤。尽管在大约85%的此类病例中发现了FL的细胞遗传学特征t(14;18),但多种继发性细胞遗传学和分子遗传学改变是转化过程的基础。我们报告了一例58岁患者,其最初表现为IV A期2级FL,随后转化为伯基特淋巴瘤。观察到与这种转化相关的多种染色体畸变,包括三种新的易位。倒位(1)(p36.3q12)和t(3;14;18)(p23;q32;q21)在转化之前出现,可能促成了转化过程。t(1;11)(q25;q13)与t(8;22)同时获得,并且与其他染色体异常一起,与极其侵袭性的临床病程相符。在该病例中观察到的1q频繁断裂表明该区域含有FL转化的重要基因组信号。