|
KMID : 1039420220560020092
|
|
Journal of Pathology and Translational Medicine
2022 Volume.56 No. 2 p.92 ~ p.96
|
|
|
An unusual case of microsatellite instability?high/deficient mismatch repair (MSI-H/dMMR) diffuse large B-cell lymphoma revealed by targeted gene sequencing
|
|
Han Bo-Gyeong
Kim Se-Hui
Koh Ji-Won
Bae Jeong-Mo
Yun Hong-Seok
Jeon Yoon-Kyung
|
|
|
Abstract
|
|
|
|
Microsatellite instability-high/deficient mismatch repair (MSI-H/dMMR) status has been approved as a tissue-agnostic biomarker for immune checkpoint inhibitor therapy in patients with solid tumors. We report the case of an MSI-H/dMMR diffuse large B-cell lymphoma (DLBCL) identified by targeted gene sequencing (TGS). A 90-year-old female who presented with vaginal bleeding and a large mass in the upper vagina was diagnosed with germinal center-B-cell-like DLBCL, which recurred at the uterine cervix at 9 months after chemotherapy. Based on TGS of 121 lymphoma-related genes and the LymphGen algorithm, the tumor was classified genetically as DLBCL of EZB subtype. Mutations in multiple genes, including frequent frameshift mutations, were detected by TGS and further suggested MSI. The MSI-H/dMMR and loss of MLH1 and PMS2 expression were determined in MSI-fragment analysis, MSI real-time polymerase chain reaction, and immunohistochemical tests. This case demonstrates the potential diagnostic and therapeutic utility of lymphoma panel sequencing for DLBCL with MSI-H/dMMR.
|
|
|
KEYWORD
|
|
|
Diffuse large B-cell lymphoma, Microsatellite instability, Deficient mismatch repair, Targeted gene sequencing
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|