Schlegelberger B, Himmler A, Gödde E, Grote W, Feller A C, Lennert K
Department of Human Genetics, University of Kiel, Germany.
Blood. 1994 Jan 15;83(2):505-11.
Cytogenetic studies on lymph node and skin biopsy specimens and peripheral blood in 104 patients with peripheral T-cell lymphomas (PTL) were compared with histopathologic diagnoses made according to the updated Kiel classification. Low-grade lymphomas presented normal metaphases more frequently than high-grade ones (P < .0001). This difference remained significant if cases with greater than 10% and greater than 50% normal metaphases in unstimulated cultures and in cultures stimulated by different mitogens were compared. On the other hand, high-grade lymphomas more often showed aberrant clones (P < .05), triploid to tetraploid clones (P < .0001), and complex clones with more than four chromosome changes (P < .01). Low-grade PTL showed consistent cytogenetic features. Clones with both inv(14)(q11q32.1) and trisomy 8q, mostly caused by i(8q)(q10), were found in all cases of T-cell chronic lymphocytic leukemia (T-CLL) and T-cell prolymphocytic leukemia (T-PLL). Trisomy 3 was observed only in angioimmunoblastic lymphadenopathy with dysproteinemia (AILD)-type PTL, T-zone lymphoma, and lymphoepithelioid lymphoma. Moreover, the proportion of normal metaphases in these PTL was higher than in the other low-grade PTL (P < .01). On the contrary, T-CLL, T-PLL, and cutaneous T-cell lymphomas (CTCL) showed complex clones (P < .0001), duplications in 6p (P < .01), deletions in 6q (P < .01), trisomy 8q (P < .00001), inv(14) (P < .00001), and monosomy 13 or changes of 13q14 (P < .001) more frequently than the other low-grade PTL. Trisomy 5 and + X predominated in AILD-type PTL. A cytogenetic feature characteristic of AILD-type PTL and CTCL was unrelated clones, which were found in 15% of AILD-type PTL and 17% of CTCL. The only chromosome aberration restricted to a certain high-grade PTL was t(2;5)(p23;q35) in large-cell anaplastic lymphoma. Deletions in 6q, total or partial trisomies of 7q, and monosomy 13 or changes of 13q14 turned out to be significantly more frequent in high-grade than in low-grade lymphomas (P < .01, P < .01, and P < .05, respectively). In summary, the cytogenetic findings in our series of 104 PTL enabled us to distinguish not only between low-grade and high-grade lymphomas but also between various entities of PTL. Thus, the cytogenetic findings paralleled the histopathologic diagnoses made according to the updated Kiel classification.
对104例外周T细胞淋巴瘤（PTL）患者的淋巴结、皮肤活检标本及外周血进行细胞遗传学研究，并与根据更新后的 Kiel 分类法做出的组织病理学诊断进行比较。低级别淋巴瘤出现正常中期分裂相的频率高于高级别淋巴瘤（P <.0001）。如果比较未刺激培养物以及由不同有丝分裂原刺激的培养物中正常中期分裂相大于10%和大于50%的病例，这种差异仍然显著。另一方面，高级别淋巴瘤更常出现异常克隆（P <.05）、三倍体至四倍体克隆（P <.0001）以及具有四个以上染色体变化的复杂克隆（P <.01）。低级别PTL表现出一致的细胞遗传学特征。在所有T细胞慢性淋巴细胞白血病（T-CLL）和T细胞幼淋巴细胞白血病（T-PLL）病例中均发现了同时具有inv(14)(q11q32.1)和8q三体的克隆，大多由i(8q)(q10)引起。仅在伴有蛋白异常血症的血管免疫母细胞性淋巴结病（AILD）型PTL、T区淋巴瘤和淋巴上皮样淋巴瘤中观察到3号染色体三体。此外，这些PTL中正常中期分裂相的比例高于其他低级别PTL（P <.01）。相反，T-CLL、T-PLL和皮肤T细胞淋巴瘤（CTCL）比其他低级别PTL更常出现复杂克隆（P <.0001）、6p重复（P <.01）、6q缺失（P <.）、8q三体（P <.00001）、inv(14)（P <.00001）以及13号染色体单体或13q14改变（P <.001）。5号染色体三体和 +X在AILD型PTL中占主导。AILD型PTL和CTCL的一个细胞遗传学特征是无关克隆，在15%的AILD型PTL和17%的CTCL中发现。唯一局限于某一高级别PTL的染色体畸变是大细胞间变性淋巴瘤中的t(2;5)(p23;q35)。6q缺失、7q的全部或部分三体以及13号染色体单体或13q14改变在高级别淋巴瘤中比在低级别淋巴瘤中明显更常见（分别为P <.01、P <.01和P <.05）。总之，我们这组104例PTL的细胞遗传学研究结果不仅使我们能够区分低级别和高级别淋巴瘤，还能区分PTL的不同实体。因此，细胞遗传学研究结果与根据更新后的 Kiel 分类法做出的组织病理学诊断结果相符。
