Sasaki K, Sugaya M, Fujita H, Takeuchi K, Torii H, Asahina A, Tamaki K
Departments of Dermatology and Faculty of Medicine, University of Tokyo, Bunkyo-Ku, Tokyo 113-8655, Japan.
Br J Dermatol. 2004 Jun;150(6):1202-7. doi: 10.1111/j.1365-2133.2004.05987.x.
Anaplastic lymphoma kinase (ALK) is frequently observed in systemic anaplastic large cell lymphoma (ALCL), mostly in childhood or adolescence, but only rarely in primary cutaneous cases. We report a case of primary cutaneous ALCL (pcALCL) with cytoplasmic ALK expression. A 54-year-old woman with an ulcerative tumour on her forehead was admitted to our hospital. Histologically, there was an infiltrate consisting of atypical large lymphocytes and small lymphocytes in the dermis and fat tissue. Southern blot analysis showed monoclonal T-cell receptor Cbeta1 gene rearrangement. Atypical large lymphocytes were positive for CD30, CD4 and CD25, and negative for CD3 and CD79a. They were also positive for ALK only in the cytoplasm, and neurophosmin (NPM)-ALK fusion transcript was not detected by reverse transcription-polymerase chain reaction. This suggested that the translocation partner of the ALK gene in this case was different from NPM (variant translocation). The tumour on the forehead resolved in 1 month after biopsy. Nodular lesions recurred on the right knee, and were histologically identical with the forehead lesion. Our case suggests the existence of a subgroup with variant ALK translocation in pcALCL; examining NPM-ALK translocation in each case with ALK expression should be useful to characterize the disease further.
间变性淋巴瘤激酶（ALK）在系统性间变性大细胞淋巴瘤（ALCL）中经常被观察到，多见于儿童或青少年，但在原发性皮肤病例中极为罕见。我们报告一例原发性皮肤ALCL（pcALCL）伴有细胞质ALK表达的病例。一名前额有溃疡性肿瘤的54岁女性入住我院。组织学检查显示，真皮和脂肪组织中有由非典型大淋巴细胞和小淋巴细胞组成的浸润。Southern印迹分析显示单克隆T细胞受体Cβ1基因重排。非典型大淋巴细胞CD30、CD4和CD25呈阳性，CD3和CD79a呈阴性。它们仅在细胞质中ALK呈阳性，逆转录-聚合酶链反应未检测到神经磷酸酶（NPM）-ALK融合转录本。这表明该病例中ALK基因的易位伴侣与NPM不同（变异易位）。前额肿瘤在活检后1个月消退。右膝出现结节性病变，组织学与前额病变相同。我们的病例提示在pcALCL中存在ALK变异易位的亚组；对每例ALK表达病例检测NPM-ALK易位对于进一步明确该疾病特征可能有用。
