Gemma N W, Lovell M A, Bringelsen K A, Williams M E
Department of Internal Medicine, University of Virginia School of Medicine, Charlottesville 22908.
Leukemia. 1992 Dec;6(12):1305-9.
A 10-year-old girl was diagnosed with lymphoblastic lymphoma; staging evaluation revealed a large mediastinal mass and normal peripheral blood and bone marrow morphology. Tumor cell immunologic marker analysis and Southern blot gene rearrangement studies demonstrated a T-cell lineage. She achieved a complete remission following multi-agent chemotherapy; however, 19 months following initial diagnosis while on maintenance therapy, she presented with typical acute lymphoblastic leukemia (ALL). The bone marrow was replaced by lymphoblasts, though the mediastinum was normal and there was no peripheral lymphadenopathy. Repeat immunophenotypic and genotypic studies demonstrated a precursor B-cell ALL lineage without expression of the T-cell surface antigens present on the original neoplasm. Repeat genotypic analysis showed immunoglobulin heavy and light chain gene rearrangements without the T-cell receptor gamma and beta gene rearrangements noted in the original lymphoblastic lymphoma. The complete alteration of lineage in these lymphoblastic processes suggests the de novo occurrence of a second neoplasm or, alternatively, an ALL relapse from a lineage-uncommitted neoplastic lymphoid progenitor cell.
一名10岁女孩被诊断为淋巴细胞性淋巴瘤；分期评估显示有一个大的纵隔肿块，外周血和骨髓形态正常。肿瘤细胞免疫标志物分析和Southern印迹基因重排研究证实为T细胞谱系。她在多药化疗后实现了完全缓解；然而，在初次诊断19个月后接受维持治疗时，她出现了典型的急性淋巴细胞白血病（ALL）。骨髓被原始淋巴细胞取代，尽管纵隔正常且无外周淋巴结病。重复的免疫表型和基因分型研究显示为前体B细胞ALL谱系，且不存在原始肿瘤中存在的T细胞表面抗原表达。重复的基因分型分析显示有免疫球蛋白重链和轻链基因重排，而原始淋巴细胞性淋巴瘤中所见的T细胞受体γ和β基因重排未出现。这些淋巴细胞过程中谱系的完全改变提示第二种肿瘤的新发，或者是来自未分化的肿瘤性淋巴祖细胞的ALL复发。
