Open AccessMutation profiles of diffuse large B‐cell lymphoma transformation of splenic B‐cell lymphoma/leukemia, unclassifiable on whole‐exome sequencing
Author(s) -
Kurosawa Shuhei,
Toya Takashi,
Sadato Daichi,
Hishima Tsunekazu,
Hirama Chizuko,
Najima Yuho,
Kobayashi Takeshi,
Haraguchi Kyoko,
Okuyama Yoshiki,
Oboki Keisuke,
Harada Hironori,
Sakamaki Hisashi,
Ohashi Kazuteru,
Harada Yuka,
Doki Noriko
Publication year - 2021
Publication title -
ejhaem
Language(s) - English
Resource type - Journals
ISSN - 2688-6146
DOI - 10.1002/jha2.315
Subject(s) - lymphoma , diffuse large b cell lymphoma , exome sequencing , transformation (genetics) , exome , leukemia , b cell lymphoma , mutation , medicine , cancer research , pathology , biology , gene , genetics , immunology
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.