Don Michelle D, Casiano Carlos, Wang Huan-You, Gorbounov Mikhail, Song Wei, Ball Edward D
Division of Laboratory and Genomic Medicine Department of Pathology University of California San Diego, 3855 Health Sciences Drive Room 3074, La Jolla, San Diego 92093, CA, USA.
Department of Pathology Loma Linda University Health, 11370 Anderson St, Suite 2950, Loma Linda 92354, CA, USA.
Case Rep Hematol. 2024 Aug 31;2024:7913296. doi: 10.1155/2024/7913296. eCollection 2024.
Richter transformation (RT) is a rare sequelae of chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). The clonal relationship of the RT to the underlined CLL/SLL is an important prognostic factor as clonally related RT has a worse prognosis than that of clonally unrelated RT. The development of more than one RT in the same patient is exceedingly rare and prior reports have shown cases consisting of RT to diffuse large B-cell lymphoma (DLBCL) and a subsequent or synchronous Hodgkin lymphoma. Here, we present a rare case of RT first to a clonally unrelated DLBCL and subsequently a clonally related DLBCL. Additionally, we retrospectively conducted next-generation sequencing studies of both RT's and found different mutational landscapes, including more clinically aggressive mutations identified in the clonally related RT. To our knowledge, this is the first reported case of clonally related and clonally unrelated RT, both of which are DLBCL, in the same patient.
里氏转化（RT）是慢性淋巴细胞白血病（CLL）/小淋巴细胞淋巴瘤（SLL）的一种罕见后遗症。RT与基础CLL/SLL的克隆关系是一个重要的预后因素，因为克隆相关的RT比克隆无关的RT预后更差。同一患者出现不止一次RT极为罕见，先前的报告显示有病例先是转化为弥漫性大B细胞淋巴瘤（DLBCL），随后或同时出现霍奇金淋巴瘤。在此，我们报告一例罕见病例，先是转化为克隆无关的DLBCL，随后又转化为克隆相关的DLBCL。此外，我们对两个RT进行了回顾性二代测序研究，发现了不同的突变图谱，包括在克隆相关的RT中发现的更多具有临床侵袭性的突变。据我们所知，这是首例在同一患者中报告的克隆相关和克隆无关的RT均为DLBCL的病例。
