Petronilho Sara, Poullot Elsa, Andre Axel, Robe Cyrielle, Nouhoum Sako, Fataccioli Virginie, Quintela José Miguel, Claudel Alexis, Brière Josette, Lechapt Emmanuele, Lemonnier François, Henrique Rui, de Leval Laurence, Gaulard Philippe
Department of Pathology, University Hospital Henri Mondor, AP-HP, Créteil, France.
Department of Hematology and Immunology, University Hospital Henri Mondor.
Am J Surg Pathol. 2025 Mar 1;49(3):273-283. doi: 10.1097/PAS.0000000000002345. Epub 2025 Jan 6.
Lymphomas of T-follicular helper origin (T-follicular helper-cell lymphoma [TFHL]) are often accompanied by an expansion of B-immunoblasts, occasionally with Hodgkin/Reed-Sternberg-like (HRS-like) cells, making the differential diagnosis with classic Hodgkin lymphoma (CHL) difficult. We compared the morphologic, immunophenotypic, and molecular features of 15 TFHL and 12 CHL samples and discussed 4 challenging cases of uncertain diagnosis. Compared with CHL, TFHL disclosed more frequent sparing of subcortical sinuses, high-endothelium venule proliferation, dendritic cell meshwork expansion, T-cell atypia, and aberrant T-cell immunophenotype. HRS-like and HRS cells were CD30+, often CD15+ and EBV infected. There was a variable loss of B-cell markers in both diseases, with an expression of CD20, CD79a, CD19, or OCT-2 more frequently preserved in HRS-like cells of TFHL. The T-cell infiltrate was predominantly CD4+/CD8-, with expression of at least 2 TFH-markers in all TFHL and 75% of CHL. The most useful TFH marker was CD10 (positive in 86% TFHL and no CHL). Twelve/15 TFHL contained CD30+ neoplastic TFH cells, whereas CD30 expression was mostly restricted to HRS cells in CHL. We detected monoclonal TR rearrangements in 75% of TFHL and no CHL; and monoclonal IG rearrangements in 23% of TFHL and 42% of CHL. All TFHL had TET2 mutations; 13/14 presented RHOA mutations, 3 accompanied by DNMT3A and 1 DNMT3A + IDH2 mutations. Three CHL had TET2 mutations, likely attributable to clonal hematopoiesis. Our study further underlines that HRS(-like) cells are not pathognomonic of CHL. Since no single pathologic criterion distinguishes TFHL and CHL, an integrative approach ideally comprising molecular investigations is fundamental.
T滤泡辅助细胞起源的淋巴瘤(T滤泡辅助细胞淋巴瘤[TFHL])常伴有B免疫母细胞增多,偶尔可见霍奇金/里德-斯腾伯格样(HRS样)细胞,这使得与经典霍奇金淋巴瘤(CHL)的鉴别诊断变得困难。我们比较了15例TFHL和12例CHL样本的形态学、免疫表型和分子特征,并讨论了4例诊断不确定的具有挑战性的病例。与CHL相比,TFHL的皮质下窦较少受累、高内皮微静脉增生、树突状细胞网络扩张、T细胞异型性及异常T细胞免疫表型更为常见。HRS样细胞和HRS细胞CD30阳性,常CD15阳性且感染EBV。两种疾病中B细胞标志物均有不同程度缺失,TFHL的HRS样细胞中CD20、CD79a、CD19或OCT-2的表达更常保留。T细胞浸润以CD4+/CD8-为主,所有TFHL和75%的CHL中至少有2种TFH标志物表达。最有用的TFH标志物是CD10(86%的TFHL阳性而CHL均为阴性)。15例TFHL中有12例含有CD30阳性的肿瘤性TFH细胞,而CHL中CD30表达大多局限于HRS细胞。我们在75%的TFHL中检测到单克隆TR重排而CHL均未检测到;23%的TFHL和42%的CHL中检测到单克隆IG重排。所有TFHL均有TET2突变;14例中有13例存在RHOA突变,3例伴有DNMT3A突变,1例伴有DNMT3A+IDH2突变。3例CHL有TET2突变,可能归因于克隆性造血。我们的研究进一步强调HRS(样)细胞并非CHL所特有。由于没有单一的病理标准能区分TFHL和CHL,理想情况下采用包括分子检测在内的综合方法至关重要。