| 대한안과학회 학술대회 발표 연제 초록 |
| 포도막 F-003 |
| 유리체망막 림프종의 전장엑솜분석 |
연세대학교 의과대학 안과학교실(1) 연세대학교 의과대학 진단검사의학교실(2) |
| 이준원(1), 김보람(2), 이현아(2), 최종락(2), 이성철(1), 이승태(2), 이승규(1) |
목적 : To investigate the mutational signatures of vitreoretinal lymphoma (VRL) for the facilitation of diagnosis, management, and development of targeted therapies. 방법 : Vitreous samples from nine patients with VRL and from four patients with intermediate and posterior uveitis were obtained consecutively between June 2018 and April 2019 at Yonsei medical center. All vitreous samples were collected by pars-plana vitrectomy before chemotherapy was initiated. All samples on which whole exome sequencing (WES) was performed had also been examined using standard cytology, interleukin assays, and immunoglobulin clonality assays. WES was performed using the Twist Human Core Exome Kit (Twist bioscience) and NovaSeq system (Illumina). 결과 : The MYD88 mutation was identified in all VRL patients (9/9; 100%), including 7 (77.8%) patients with MYD88 L265P mutation. All of these mutations were located in the Toll/IL-1 receptor (TIR) domain of MYD88. Followed by MYD88, PIM1 (8/9; 88.9%), and IGLL5 (8/9; 88.9%) mutations were also frequently identified. The CD79B mutation was identified in 2 (22.2%) patients. VRL shared mutational profiles with primary CNS lymphoma (PCNSL) more so than it did with systemic diffuse large B cell lymphoma (DLBCL). However, the frequencies of the mutations showed distinguishing features. 결론 : WES of VRL identified a high frequency of MYD88 mutations, and a mutation profile resembling that of PCNSL. These findings illustrate the diagnostic value of WES and offer new perspectives for managing VRL through drug sensitivity prediction and development of targeted therapies. |