a Department of Hematology and Oncology , Washington Cancer Institute Medstar Washington Hospital Center , Washington , D.C , U.S.A.
b Department of Medicine , MedStar Georgetown University Hospital , Washington , D.C , U.S.A.
Leuk Lymphoma. 2019 Apr;60(4):971-979. doi: 10.1080/10428194.2018.1516878. Epub 2019 Jan 11.
Richter transformation (RT) is a progression from chronic lymphocytic leukemia (CLL) to a more aggressive lymphoma, most often diffuse large B-cell lymphoma (DLBCL). Due to the rarity of the disease, data regarding the molecular profile and cell of origin (COO) of RT is limited. We performed immunohistochemistry analysis for COO determination and next-generation sequencing for gene mutation analysis in 11 RT patients. Seventy-nine percent of our patients were classified as non-GCB phenotype. Of the 57 unique mutations identified, the three most commonly mutated genes were TP53, TET2, and CREBBP. Neither TET2 nor CREBBP has been previously described in RT. Our analysis provides additional information to help guide further investigation of both the diagnosis and treatment of this complex and heterogeneous disease.
里希特转化（RT）是从慢性淋巴细胞白血病（CLL）向侵袭性更强的淋巴瘤的进展，最常见的是弥漫性大 B 细胞淋巴瘤（DLBCL）。由于该疾病罕见，关于 RT 的分子谱和细胞起源（COO）的数据有限。我们对 11 例 RT 患者进行了 COO 测定的免疫组织化学分析和基因突变分析的下一代测序。我们的患者中有 79%被归类为非 GCB 表型。在确定的 57 个独特突变中，最常突变的三个基因为 TP53、TET2 和 CREBBP。TET2 和 CREBBP 以前都没有在 RT 中描述过。我们的分析提供了更多信息，有助于进一步指导对这一复杂和异质性疾病的诊断和治疗的研究。
