Weiss L M, Hu E, Wood G S, Moulds C, Cleary M L, Warnke R, Sklar J
N Engl J Med. 1985 Aug 29;313(9):539-44. doi: 10.1056/NEJM198508293130903.
Histologic diagnosis of mycosis fungoides may be difficult, especially in lymph nodes that show changes frequently associated with chronic skin disease. As an alternative approach to diagnosis, we have analyzed the configuration of DNA for the beta T-cell receptor genes in biopsy tissues from 14 patients with mycosis fungoides. Clonal rearrangements of these genes were found in each specimen tht contained histologically unambiguous mycosis fungoides. Clonal rearrangements were also found in seven of nine lymph nodes removed from patients with mycosis fungoides and considered histologically to contain only benign lymphadenopathy. Matching rearrangements of beta T-cell receptor genes were detected in benign lymph nodes and histologically involved tissues when paired specimens were available from the same cases. Our findings provide molecular evidence for the clonal T-cell origin of mycosis fungoides and indicate the high incidence of extracutaneous disease in patients with palpable lymphadenopathy. In addition, this study demonstrates that the detection of rearranged T-cell receptor genes can be a sensitive and practical method for the diagnosis and characterization of T-cell neoplasms.
蕈样肉芽肿的组织学诊断可能具有挑战性，尤其是在那些显示出常与慢性皮肤病相关变化的淋巴结中。作为一种替代诊断方法，我们分析了14例蕈样肉芽肿患者活检组织中β T细胞受体基因的DNA构型。在每个组织学上明确诊断为蕈样肉芽肿的标本中均发现了这些基因的克隆重排。在9例蕈样肉芽肿患者切除的淋巴结中，有7例被认为组织学上仅含有良性淋巴结病，但也发现了克隆重排。当从同一病例获得配对标本时，在良性淋巴结和组织学受累组织中检测到β T细胞受体基因的匹配重排。我们的研究结果为蕈样肉芽肿的克隆性T细胞起源提供了分子证据，并表明有可触及淋巴结病的患者皮肤外疾病的高发生率。此外，本研究表明，检测重排的T细胞受体基因可以成为诊断和鉴定T细胞肿瘤的一种敏感且实用的方法。
