Mutation profiles of diffuse large B-cell lymphoma transformation of splenic B-cell lymphoma/leukemia, unclassifiable on whole-exome sequencing.

Abstract

A 58-year-old male was diagnosed with splenic B-cell lymphoma/leukemia, unclassifiable (SPLL-U). The lymphoma transformed into diffuse large B-cell lymphoma (DLBCL), and multidrug chemotherapy and autologous stem cell transplantation achieved complete remission. Two years later, the lymphoma relapsed as SPLL-U. Serial whole-exome sequencing indicated that the mutation profiles were similar between the onset and relapsed samples while those in DLBCL were partially distinctive, which was in line with the clinical course. Hierarchical clustering revealed that an IGLL5 mutation was the founder mutation proceeding the development of the diseases and suggested that KRAS and other mutations might contribute to the transformation.

• Authors: Shuhei Kurosawa, Takashi Toya, Daichi Sadato, Tsunekazu Hishima, Chizuko Hirama, Yuho Najima, Takeshi Kobayashi, Kyoko Haraguchi, Yoshiki Okuyama, Keisuke Oboki, Hironori Harada, Hisashi Sakamaki, Kazuteru Ohashi, Yuka Harada, Noriko Doki
• Journal: EJHaem (EJHaem) Vol. 2 Issue 4 Pg. 854-860 (Nov 2021) ISSN: 2688-6146 [Electronic] United States
• PMID: 35845190 (Publication Type: Case Reports)
• Copyright: © 2021 The Authors. eJHaem published by British Society for Haematology and John Wiley & Sons Ltd.