Department of Pathology, B35, University of Liege, CHU Sart Tilman, Liege, Belgium,
Virchows Arch. 2014 Jun;464(6):735-41. doi: 10.1007/s00428-014-1560-3. Epub 2014 Mar 7.
Recurrent chromosomal translocations associated to peripheral T-cell lymphomas (PTCL) are rare. Here, we report a case of PTCL, not otherwise specified (NOS) with the karyotype 46,Y,add(X)(p22),t(6;14)(p25;q11) and FISH-proved breakpoints in the IRF4 and TCRAD loci, leading to juxtaposition of both genes. A 64-year-old male patient presented with mild cytopenias and massive splenomegaly. Splenectomy showed diffuse red pulp involvement by a pleomorphic medium- to large-cell T-cell lymphoma with a CD2+ CD3+ CD5- CD7- CD4+ CD8+/- CD30- TCRbeta-F1+ immunophenotype, an activated cytotoxic profile, and strong MUM1 expression. The clinical course was marked by disease progression in the bone marrow under treatment and death at 4 months. In contrast with two t(6;14)(p25;q11.2)-positive lymphomas previously reported to be cytotoxic PTCL, NOS with bone marrow and skin involvement, this case was manifested by massive splenomegaly, expanding the clinical spectrum of PTCLs harboring t(6;14)(p25;q11.2) and supporting consideration of this translocation as a marker of biological aggressiveness.
与外周 T 细胞淋巴瘤（PTCL）相关的复发性染色体易位较为罕见。在此，我们报告一例非特指型 PTCL（NOS）患者，其核型为 46,Y,add(X)(p22)，t(6;14)(p25;q11)，并且通过荧光原位杂交（FISH）证实了 IRF4 和 TCRAD 基因座的断裂点，导致这两个基因并列。一名 64 岁男性患者表现为轻度血细胞减少和巨大脾脏肿大。脾切除术显示弥漫性红髓累及一种多形性中等至大细胞 T 细胞淋巴瘤，具有 CD2+ CD3+ CD5- CD7- CD4+ CD8+/- CD30- TCRbeta-F1+免疫表型、激活的细胞毒性表型和强烈的 MUM1 表达。在治疗过程中骨髓疾病进展和 4 个月后死亡，其临床病程显著。与之前报道的两种具有 t(6;14)(p25;q11.2)阳性的细胞毒性 PTCL、NOS 伴骨髓和皮肤受累不同，本例表现为巨大脾脏肿大，扩大了携带 t(6;14)(p25;q11.2)的 PTCL 的临床谱，并支持将这种易位视为生物学侵袭性的标志物。
