Institute of Pathology, Department of Laboratory Medicine and Pathology, Lausanne University Hospital and Lausanne University, Rue du Bugnon 25, CH-1011, Lausanne, Switzerland.
Service of Haematology, Department of Oncology, Lausanne University Hospital and Lausanne University, Lausanne, Switzerland.
Virchows Arch. 2022 Oct;481(4):653-657. doi: 10.1007/s00428-022-03309-4. Epub 2022 Apr 2.
DUSP22 gene rearrangements are recurrent in systemic and cutaneous ALK-negative anaplastic large cell lymphomas, rarely encountered in other cutaneous CD30+ lymphoproliferations, and typically absent in other peripheral T-cell lymphomas. We report the case of a 51-year-old woman, with longstanding celiac disease and a rapidly enlarging leg ulcer, due to a DUSP22-rearranged CD30+ T-cell lymphoproliferation. Subsequent history revealed an intestinal enteropathy-associated T-cell lymphoma (EATL). Identical monoclonal TR gene rearrangements and mutations in STAT3 and JAK1 typical of EATL were present in the cutaneous and intestinal lesions. No DUSP22 rearrangement was detected in the patient's intestinal tumour, nor in 15 additional EATLs tested. These findings indicate that DUSP22 rearrangements are not entirely specific of ALCLs, may rarely occur as a secondary aberration in EATL, and expand the differential diagnosis of DUSP22-rearranged cutaneous CD30+ lymphoproliferative disorders.
DUSP22 基因重排在系统性和皮肤性 ALK 阴性间变性大细胞淋巴瘤中频繁出现，在其他皮肤性 CD30+淋巴增生性疾病中很少见，并且通常不存在于其他外周 T 细胞淋巴瘤中。我们报告了一例 51 岁女性病例，患有长期的乳糜泻和迅速扩大的腿部溃疡，其原因是 DUSP22 重排的 CD30+ T 细胞淋巴增生。随后的病史显示为肠病相关 T 细胞淋巴瘤（EATL）。在皮肤和肠道病变中存在相同的单克隆 TR 基因重排以及 EATL 中典型的 STAT3 和 JAK1 突变。在患者的肠道肿瘤中以及在 15 例额外的 EATL 检测中均未检测到 DUSP22 重排。这些发现表明 DUSP22 重排并非完全特异于间变性大细胞淋巴瘤，在 EATL 中可能很少作为继发性异常出现，并扩展了 DUSP22 重排的皮肤性 CD30+淋巴增生性疾病的鉴别诊断。
