Diagnostic value of genetic mutation analysis and mutation profiling of cell‐free DNA in intraocular fluid for vitreoretinal lymphoma

Chen, Xiaoqing; Hu, Yunwei; Su, Wenru; Yang, Shizhao; Wang, Xiaoxiao; Zhang, Ping; Hong, Xiaoyu; Liang, Chuqiao; Qian, Zenghui; Li, Ziqiang; Tao, Yong; Huang, Huiqiang; Liang, Dan

doi:10.1002/cac2.12344

Cited by 4 publications

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“…Liquid biopsy can use a small amount of fluid; the analysis involves modern technology: next generation sequencing (NGS), cell-free DNA (cfDNA), and circulating tumor DNA (ctDNA). In recent years, cfDNA sequencing from the aqueous humor, vitreous fluid, or cerebrospinal fluid (CSF) of VRL patients has been evaluated for identifying genomic mutations [32,[34][35][36][37][38][39] . The data reveal high sensitivity and specificity.…”

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confidence: 99%

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2024

Int J Ophthalmol

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Great discoveries and improvements invariably involvethe cooperation of many minds. -Alexander Graham Bell The hardest problems of pure and applied science can only be solved by the open collaboration of the worldwide scientific community. -Kenneth G Wilson O n December 9, 2023, I was privileged to be honored and participate in the Dr. Chi Chao Chan Symposium on Global Collaboration of Eye Research as the Global Eye Genetic Consortium (GEGC) session, which was held in the 16 th Congress of the Asia-Pacific Vitreo-Retina Society (APVRS) in Hong Kong. Along with my talk on "Global collaboration of eye research: personal experience", other prominent international speakers provided their own perspectives on opportunities for networking, collaboration,

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confidence: 99%

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2024

Int J Ophthalmol

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“…따라서 유리체망막 림프종 진단 과 연구에 최근 방수나 유리체에서 MYD88 돌연변이를 포함한 유전체 연구가 활발하다. 안 검체는 대게 소량만 얻을 수 있기 때문에 이러한 제한점을 극복하기 위해 cell-free DNA를 이용 한 유전체 분석도 활발히 연구되고 있다 [16]. [17].…”

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Mutational Profile of Vitreoretinal Lymphoma

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2023

J Retin

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Lymphomas are a heterogeneous group of malignancies with complex classification. Recent advances in the understanding of pathogenesis and clinical course of lymphomas were achieved through gene expression profiling studies, which changed the classification of lymphomas. Mutational profiling is especially useful in vitreoretinal lymphoma, which can masquerade as non-specific intraocular inflammation and present technical difficulties in cytological diagnosis. Primary vitreoretinal lymphoma is a subset of primary central nervous system lymphoma and mostly diffuse large B-cell lymphoma (DLBCL). Vitreoretinal DLBCL is characterized by a high frequency of MYD88 mutation among DLBCLs, which may be attributed to ocular immune privilege. The major hot-spot mutation is MYD88 L265P , which is detected in 69-87% of vitreoretinal lymphoma vitreous specimen. CD79B, CDKN2A, PIM1, IGLL5, BTG1, BTG2, TBL1XR1, and PTEN are other frequently reported altered genes in vitreoretinal lymphoma. Further genetic studies will advance the understanding and management of vitreoretinal lymphomas.

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