Chen Y T, Godwin T A, Mouradian J A
Department of Pathology, New York Hospital-Cornell Medical Center, NY 10021.
Hum Pathol. 1991 Dec;22(12):1249-57. doi: 10.1016/0046-8177(91)90107-z.
One hundred fifty-two cases (155 specimens) of lymphoproliferative disorders were studied by immunohistochemistry and gene rearrangement analysis. Ninety-five of 96 B-cell lymphomas (99%) showed genotypic B-cell monoclonality. Of these, five cases had rearranged T-cell receptor (TCR) beta chain gene in addition to immunoglobulin heavy chain (IgH) and kappa light chain (Ig-K), one case had rearranged IgH and TCR-gamma chain but not Ig-K or TCR-beta, and two cases had only Ig-K rearrangement. One exceptional case in the B-cell lymphoma group had unrearranged, germline genotypes. In contrast, only 10 of 19 (53%) phenotypic T-cell lymphomas had rearranged TCR-beta, eight with concurrent TCR-gamma rearrangement. Of the remaining nine cases, six had germline configuration, two had rearranged Ig-K only, and one had both IgH and Ig-K rearrangement. This last case was reclassified as T-cell predominant, B-cell lymphoma. Thirteen of 16 cases of Hodgkin's disease had germline configuration; three cases had rearranged IgH and Ig-K, of which two were lymphocyte predominant with light chain monoclonality and one was a recurrence. Among 21 reactive lesions, 17 had germline configuration and four had rearranged IgH and Ig-K genes. Of these four cases, two were orbital lesions, one was a partially involved lymph node, and one developed a nodular lymphoma 9 months later. Our results indicate that almost all B-cell lymphomas have IgH and/or Ig-K rearrangement. In contrast, peripheral T-cell lymphomas have greater genotypic heterogeneity, and germline patterns for TCR genes are not uncommon. Reactive lesions and Hodgkin's disease tend to retain germline configuration, and any exception is often associated with an unusual clinical setting and/or histology. Genotypic analysis is thus most indicated in B-cell lymphomas with equivocal immunohistochemistry findings, T-cell lymphomas, and atypical cases of Hodgkin's disease and reactive lesions.
通过免疫组织化学和基因重排分析对152例（155个标本）淋巴增殖性疾病进行了研究。96例B细胞淋巴瘤中的95例（99%）显示出基因分型的B细胞单克隆性。其中，5例除免疫球蛋白重链（IgH）和κ轻链（Ig-K）外，T细胞受体（TCR）β链基因发生重排；1例IgH和TCR-γ链发生重排，但Ig-K或TCR-β未重排；2例仅Ig-K发生重排。B细胞淋巴瘤组中有1例特殊病例具有未重排的种系基因型。相比之下，19例表型T细胞淋巴瘤中只有10例（53%）TCR-β发生重排，8例同时伴有TCR-γ重排。其余9例中，6例为种系构型，2例仅Ig-K发生重排，1例IgH和Ig-K均发生重排。最后这例病例被重新分类为T细胞为主型B细胞淋巴瘤。16例霍奇金病中有13例为种系构型；3例IgH和Ig-K发生重排，其中2例为淋巴细胞为主型且有轻链单克隆性，1例为复发病例。在21例反应性病变中，17例为种系构型，4例IgH和Ig-K基因发生重排。这4例中，2例为眼眶病变，1例为部分受累淋巴结，1例在9个月后发展为结节性淋巴瘤。我们的结果表明，几乎所有B细胞淋巴瘤都有IgH和/或Ig-K重排。相比之下，外周T细胞淋巴瘤具有更大的基因分型异质性，TCR基因的种系模式并不罕见。反应性病变和霍奇金病倾向于保留种系构型，任何例外情况通常都与不寻常的临床情况和/或组织学有关。因此，基因分型分析最适用于免疫组织化学结果不明确的B细胞淋巴瘤、T细胞淋巴瘤以及霍奇金病和反应性病变的非典型病例。
