Broccoli Alessandro, Bertuzzi Clara, Fiorentino Michelangelo, Morigi Alice, Stefoni Vittorio, Agostinelli Claudio, Argnani Lisa, Cavo Michele, Zinzani Pier Luigi
Institute of Hematology "L. e A. Seràgnoli", University of Bologna, Bologna, Italy.
Hematopathology Unit, Institute of Hematology "L. e A. Seràgnoli", University of Bologna, Bologna, Italy.
Onco Targets Ther. 2019 Jun 20;12:4807-4812. doi: 10.2147/OTT.S202061. eCollection 2019.
Hairy cell leukemia (HCL) is an uncommon B-cell chronic lymphoproliferative disorder whose pathogenesis and recurrence are strictly dependent on the presence of the BRAF V600E mutant. A 65-year-old male presented a monomorphic epitheliotropic intestinal T-cell lymphoma (formerly enteropathy-associated T-cell lymphoma, type II) with HCL not responding to first-line induction with cladribine. The intestinal lymphoma bears the BRAF V600E mutant, which is the molecular hallmark of HCL, being implicated in its pathogenesis. The case is of interest, as it provides the first description of a V600E-positive intestinal T-cell lymphoma, along with immunohistochemical and molecular demonstration, occurring in concomitance with HCL. A novel digital PCR-base method for HCL disease assessment is also suggested.
毛细胞白血病（HCL）是一种罕见的B细胞慢性淋巴细胞增殖性疾病，其发病机制和复发严格依赖于BRAF V600E突变体的存在。一名65岁男性患有单形性亲上皮性肠道T细胞淋巴瘤（以前称为II型肠病相关T细胞淋巴瘤），其HCL对一线克拉屈滨诱导治疗无反应。肠道淋巴瘤携带BRAF V600E突变体，这是HCL的分子标志，与其发病机制有关。该病例很有意思，因为它首次描述了V600E阳性肠道T细胞淋巴瘤，并伴有免疫组织化学和分子学证据，且与HCL同时发生。还提出了一种用于HCL疾病评估的基于数字PCR的新方法。
