原发性皮肤间变性大细胞淋巴瘤T细胞γ受体、IgH基因重排

Gene rearrangement in T-cell receptor γ and immunoglobulin heavy chain for primarycutaneous anaplastic large cell lymphoma

目的:探讨原发性皮肤间变性大细胞淋巴瘤(C-ALCL)临床病理特点和基因诊断方法。方法:对6例C-ALCL的临床表现、病理形态学和免疫组化染色进行观察,并用PCR方法对石蜡标本进行T细胞γ受体(TCRγ)和重链免疫球蛋白(IgH)基因重排检测。结果:临床起病以孤立性结节多见,病情进展缓慢,个别可自行消退。5例患者经治疗病情稳定,1例死于淋巴结及肝脏转移。镜下以75%以上CD30+间变性大细胞弥漫浸润真皮及皮下脂肪组织为特点,多数瘤细胞表达T细胞免疫表型。5例标本TCRγ基因重排阳性。结论:C-ALCL是少见的原发皮肤的低度恶性T细胞性淋巴瘤,预后较好。综合临床表现、组织病理改变、免疫组化及基因重排检测有助于本病的正确诊断。

Objective: To explore the clinicopathological features of primary cutaneous anaplastic large cell lymphoma(C-ALCL) and the significance of genetic analysis in the diagnosis. Methods: Clinical manifestations, histopathology, immunochemistry and colonal gene rearrangement by PCR were studied in 6 cases of C-ALCL. Results: Patients often presented with solitary nodule, which developed slowly with an occasional spontaneous regression. Five patients were alive with no disease evidence after the therapy, while one died of involvement of her lymph nodes and the liver. The lymphoma was characterized by a dermal and subcutaneous infiltrate of atypical large cells. More than 75% of the neoplastic cells were positive for CD30 and most expressed T-cell immunophenotype. Colonal TCRγ gene rearrangement was detected in 5 cases. Conclusion: Among the cutaneous lymphomas, C-ALCL is a rare entity of low-grade malignancy with generally favorable outcome. All available clinical, histologic, immunophenotypical and rearrangement studies should be considered in order to establish the correct diagnosis.