Department of Pathology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229-3900, United States.
Exp Mol Pathol. 2013 Feb;94(1):98-102. doi: 10.1016/j.yexmp.2012.10.003. Epub 2012 Oct 10.
We previously hypothesized that cytogenetic abnormalities precede morphological abnormalities in developing malignant conditions. In this context we evaluated additional cases to further confirm that hypothesis. We report on 2 additional cases in which clonal cytogenetic abnormalities were observed in otherwise morphologically normal samples. Case 1 is a bone marrow from a 73 year old male with transformed follicular lymphoma (FL), while case 2 is a lymph node from a 53-year-old with lymphadenopathy, both referred to the cytogenetics laboratory for evaluation. A 73-year-old male presented with an enlarging left inguinal mass surrounding and obliterating the left iliac vein. A tissue core biopsy of the mass revealed recurrent high grade FL with diffuse large B-cell lymphoma (DLBCL). Examination of a random bone marrow biopsy of the adjacent left posterior iliac crest showed only mild hypercellularity (50%) and no evidence of malignancy, and the results were confirmed by flow cytometry. Cytogenetic evaluation revealed an interstitial deletion, del (9)(q13q32). In case 2, morphologically the lymph node showed extensive paracortical hyperplasia with numerous eosinophils and no clear indication of a neoplastic process with no abnormal lymphoid population observed by flow. PCR studies for TCR gamma and IgH gene rearrangements were negative for clonality. Chromosome analysis demonstrated 47,XY,+add(1)(p22),t(3;14)(q27;q11.2)[13]/46,XY[7]. FISH studies showed a BCL6 gene rearrangement but no TCRAD rearrangement. A subsequent inguinal lymph node biopsy showed DLBCL. These cases along with the other cases in the literature provide further evidence of genetic abnormalities preceding morphological abnormalities in developing malignant conditions.
我们之前假设细胞遗传学异常先于发育恶性疾病的形态学异常。在这种情况下，我们评估了额外的病例，以进一步证实这一假设。我们报告了另外 2 例病例，在这些病例中，在形态学正常的样本中观察到克隆细胞遗传学异常。病例 1 是一名 73 岁男性的骨髓，患有转化滤泡性淋巴瘤（FL），而病例 2 是一名 53 岁男性的淋巴结，均因细胞遗传学评估而转至细胞遗传学实验室。一名 73 岁男性因左腹股沟肿块增大，环绕并阻塞左髂静脉而就诊。对肿块的组织芯活检显示复发性高级别 FL 伴弥漫性大 B 细胞淋巴瘤（DLBCL）。对相邻左髂后嵴的随机骨髓活检检查显示仅轻度细胞增多（50%），无恶性肿瘤证据，流式细胞术结果证实了这一点。细胞遗传学评估显示 9q13q32 染色体间缺失，del（9）（q13q32）。在病例 2 中，淋巴结形态学上表现为广泛的皮质旁增生，伴有大量嗜酸性粒细胞，未见明确的肿瘤过程，流式细胞术未观察到异常淋巴细胞群。TCR gamma 和 IgH 基因重排的 PCR 研究排除了克隆性。染色体分析显示 47,XY,+add(1)(p22),t(3;14)(q27;q11.2)[13]/46,XY[7]。FISH 研究显示 BCL6 基因重排，但无 TCRAD 重排。随后的腹股沟淋巴结活检显示为 DLBCL。这些病例以及文献中的其他病例进一步证明了遗传异常先于发育恶性疾病的形态学异常。
