Provan A B, Majer R V, Smith A G, Wilkins B, Hodges E, Smith J L
Department of Haematology, Royal South Hants Hospital, Southampton.
J Clin Pathol. 1991 Apr;44(4):344-5. doi: 10.1136/jcp.44.4.344.
Morphological, immunophenotypic, and genetic analyses were carried out on peripheral blood, bone marrow, and pharyngeal biopsy material from a patient with chronic myelomonocytic leukaemia (CMML). Morphological analysis of bone marrow was diagnostic of CMML; immunophenotypic analysis of peripheral blood and bone marrow were negative for B and T cell antigens, and immunochemistry performed on the pharyngeal extramedullary infiltrate showed the presence of large monocytoid cells which stained positively for muramidase. Genotypic analysis, however, showed clonal rearrangement of the T cell receptor (TCR) delta chain gene, a marker of T cell or, less commonly, B cell lymphoid neoplasms. Other TCR genes, beta and gamma, were germline in all tissues examined. TCR delta is rearranged in precursor B cell and most T lymphoid neoplasms. A small proportion of cases (10%) of acute myeloid leukaemia (AML) also show rearrangement of the TCR delta gene. To date TCR delta rearrangement has not been described in CMML. The aberrant TCR delta rearrangement shown in this patient with CMML provides further evidence of the clonal nature of this disorder.
对一名慢性粒单核细胞白血病（CMML）患者的外周血、骨髓和咽活检材料进行了形态学、免疫表型和基因分析。骨髓的形态学分析诊断为CMML；外周血和骨髓的免疫表型分析显示B和T细胞抗原均为阴性，对咽部髓外浸润进行的免疫化学检查显示存在对溶菌酶呈阳性染色的大单核样细胞。然而，基因分析显示T细胞受体（TCR）δ链基因发生克隆重排，这是T细胞或较少见的B细胞淋巴瘤的标志物。在所有检测组织中，其他TCR基因β和γ均为种系状态。TCRδ在前体B细胞和大多数T淋巴细胞肿瘤中发生重排。一小部分（10%）急性髓细胞白血病（AML）病例也显示TCRδ基因重排。迄今为止，尚未在CMML中描述TCRδ重排。该CMML患者出现的异常TCRδ重排为这种疾病的克隆性质提供了进一步证据。
