Department of Pathology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230036, China.
Intelligent Pathology Institute, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230036, China.
Histopathology. 2023 Jul;83(1):137-142. doi: 10.1111/his.14919. Epub 2023 Apr 18.
Nodal T follicular helper (TFH) cell lymphoma (nTFHL) is a rare type of clinically aggressive T cell lymphoma. With this lymphoma type, Epstein-Barr virus (EBV) infection is frequently detected in non-neoplastic B lymphocytes, but not yet identified in neoplastic T cells. We report two cases of nTFHL showing a classic morphology and immunoprofile, with EBV-encoded small RNAs (EBER) in-situ hybridisation positivity in neoplastic TFH cells.
Clonal T cell receptor (TR) gene rearrangement was detected in both cases. Whole exome sequencing identified TET2, RHOA p. G17V, as well as gene mutations unique to each case. Microdissection analysis showed EBER positivity in tumour cells and in background non-neoplastic T lymphocytes.
These two immunocompetent cases of nTFHL with EBV-positive tumour cells exhibit the featured gene mutation profile and poor prognosis of this disease. This novel finding of EBV positivity in our cases expands the currently recognised spectrum of EBV-positive nodal T cell lymphomas to include rare cases of nTFHL.
滤泡辅助性 T 细胞淋巴瘤（nTFHL）是一种罕见的侵袭性 T 细胞淋巴瘤。在这种淋巴瘤类型中，EB 病毒（EBV）经常在非肿瘤性 B 淋巴细胞中检测到，但尚未在肿瘤性 T 细胞中鉴定到。我们报告了两例表现出典型形态和免疫表型的 nTFHL 病例，肿瘤性 TFH 细胞中 EBV 编码的小 RNA（EBER）原位杂交阳性。
两种情况下均检测到克隆性 T 细胞受体（TR）基因重排。全外显子组测序鉴定出 TET2、RHOA p. G17V 以及每个病例特有的基因突变。微切割分析显示肿瘤细胞和背景非肿瘤性 T 淋巴细胞中 EBER 阳性。
这两例免疫功能正常的 nTFHL 伴 EBV 阳性肿瘤细胞具有该病特征性的基因突变谱和不良预后。我们的病例中 EBV 阳性的这一新发现将目前公认的 EBV 阳性结内 T 细胞淋巴瘤谱扩展到包括罕见的 nTFHL 病例。
