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Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring

Authors
 Seonghee Choi  ;  Saeam Shin  ;  Seung-Tae Lee  ;  Junwon Lee  ;  Jihei Sara Lee  ;  Borahm Kim  ;  Christopher Seungkyu Lee 
Citation
 OCULAR IMMUNOLOGY AND INFLAMMATION, Vol.29(3) : 485-489, 2021-09 
Journal Title
OCULAR IMMUNOLOGY AND INFLAMMATION
ISSN
 0927-3948 
Issue Date
2021-09
MeSH
Antimetabolites, Antineoplastic / therapeutic use ; Aqueous Humor / metabolism* ; DNA Mutational Analysis ; Female ; Gene Expression Regulation, Neoplastic / physiology* ; Humans ; Intraocular Lymphoma / drug therapy ; Intraocular Lymphoma / genetics* ; Intraocular Lymphoma / pathology ; Intravitreal Injections ; Methotrexate / therapeutic use ; Middle Aged ; Mutation, Missense / genetics* ; Myeloid Differentiation Factor 88 / genetics* ; Retinal Neoplasms / drug therapy ; Retinal Neoplasms / genetics* ; Retinal Neoplasms / pathology
Keywords
MYD88 L265P mutation ; Vitreoretinal lymphoma ; intravitreal methotrexate ; posterior uveitis ; primary central nervous system lymphoma
Abstract
Purpose: To report a case of a patient whose MYD88 mutation disappeared from the aqueous humor following treatment with intravitreal methotrexate.

Methods: A retrospective review of clinical, histopathological and imaging records.

Results: A 49-year-old woman presented with bilateral primary vitreoretinal lymphoma confirmed by molecular and next-generation sequencing studies on vitreous biopsy samples. Initially, the MYD88 L265P mutation was detected in aqueous samples of both eyes. Serial testing for MYD88 L265P mutations performed on aqueous samples collected at the time of the weekly intravitreal methotrexate injections showed the mutation ceased to be detected after four weekly injections in the non-vitrectomized right eye and after two weekly injections in the vitrectomized left eye. Clinical improvement accompanied the negativization of the mutation in both eyes.

Conclusion: We present a case that demonstrates the possible utilization of serial testing for the MYD88 L265P mutation as a tool for monitoring disease course in vitreoretinal lymphoma.
Full Text
https://www.tandfonline.com/doi/full/10.1080/09273948.2020.1802488
DOI
10.1080/09273948.2020.1802488
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Bo Ram(김보람)
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Lee, Christopher Seungkyu(이승규) ORCID logo https://orcid.org/0000-0001-5054-9470
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Jun Won(이준원) ORCID logo https://orcid.org/0000-0003-0543-7132
Lee, Jihei Sara(이지혜)
Choi, Seonghee(최성희)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/187678
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