Ott G, Katzenberger T, Siebert R, DeCoteau J F, Fletcher J A, Knoll J H, Kalla J, Rosenwald A, Ott M M, Weber-Matthiesen K, Kadin M E, Müller-Hermelink H K
Institute of Pathology, University of Würzburg, Germany.
Genes Chromosomes Cancer. 1998 Jun;22(2):114-21. doi: 10.1002/(sici)1098-2264(199806)22:2<114::aid-gcc5>3.0.co;2-#.
To determine the significance of the t(2;5)(p23;q35) translocation in nodal and extranodal anaplastic large cell lymphoma (ALCL), we performed cytogenetic, molecular genetic, and immunohistochemical analyses of tumor tissues from 11 patients with CD30+ ALCL. Three of five patients with nodal ALCL had additional infiltration of the skin. Six patients had extranodal ALCL, two had primary intestinal ALCL, three had a primary cutaneous ALCL, and one had osseous ALCL. Cytogenetic investigation detected the t(2;5) in all patients with nodal ALCL but not extranodal ALCL. Tumor cells in t(2;5)+ lesions also stained immunohistochemically for p80NPM/ALK, whereas no staining for p80NPM/ALK was detected in extranodal ALCL. Two extranodal lesions had NPM/ALK fusion transcripts detected by nested reverse transcriptase-polymerase chain reaction. Fluorescence in situ hybridization analysis of these two lymphomas showed in one case a significant number (4%) of cells with a split hybridization signal, indicative of disruption of the NPM gene. Additional recurrent breakpoints observed in extranodal ALCL were 1p36, 6p25, and 8q24. Loss of genetic material occurred at 6q in one extranodal ALCL. Our results suggest that the t(2;5) more frequently plays a pathogenetic role in primary nodal than in extranodal ALCL and that this translocation may not be the primary event in some CD30+ ALCL.
为了确定t(2;5)(p23;q35)易位在淋巴结和结外间变性大细胞淋巴瘤（ALCL）中的意义，我们对11例CD30+ ALCL患者的肿瘤组织进行了细胞遗传学、分子遗传学和免疫组织化学分析。5例淋巴结ALCL患者中有3例伴有皮肤额外浸润。6例患者为结外ALCL，2例为原发性肠道ALCL，3例为原发性皮肤ALCL，1例为骨ALCL。细胞遗传学研究在所有淋巴结ALCL患者中均检测到t(2;5)，但在结外ALCL中未检测到。t(2;5)+病变中的肿瘤细胞免疫组织化学也显示p80NPM/ALK染色阳性，而在结外ALCL中未检测到p80NPM/ALK染色。通过巢式逆转录-聚合酶链反应在2例结外病变中检测到NPM/ALK融合转录本。对这2例淋巴瘤进行荧光原位杂交分析，其中1例显示有相当数量（4%）的细胞出现分裂杂交信号，提示NPM基因断裂。在结外ALCL中观察到的其他复发性断点为1p36、6p25和8q24。1例结外ALCL在6q处发生遗传物质缺失。我们的结果表明，t(2;5)在原发性淋巴结ALCL中比在结外ALCL中更常发挥致病作用，并且这种易位在某些CD30+ ALCL中可能不是主要事件。
