Unilateral panuveitis secondary to JAK2 mutation-associated lymphoproliferative disease Journal Article

   


Authors: Li, Y.; Grommes, C.; Deobhakta, A.; Diaz, M.
Article Title: Unilateral panuveitis secondary to JAK2 mutation-associated lymphoproliferative disease
Abstract: A woman in her 70s experienced painless vision loss in the right eye for 1 month. Acute retinal necrosis-induced panuveitis was the referral diagnosis. With dense vitreous haze, a vitrectomy was performed for vitreous biopsy followed by multimodal imaging. Vitreous biopsy yielded negative PCR results for herpes viruses and only inflammatory cells. Post-vitrectomy imaging showed involuted but pervasive pigmentary foci in the outer retina and the retinal pigment epithelium. Concurrently, peripheral blood showed pancytosis with giant platelets and a Janus kinase 2 (JAK2) mutation, which prompted a haematological evaluation. CT and MRI revealed a right frontal lobe intra-axial mass, diagnosed as diffuse large B cell lymphoma (DLBCL). Subsequently, bone marrow aspirate confirmed the pathogenic V617F JAK2 mutation. Following chemotherapy, the patient achieved lymphoma regression and uveitic quiescence. This is the first case report of acute unilateral panuveitis in a patient with JAK2 mutation and DLBCL but without evidence of intraocular involvement. © BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Keywords: genetics; mutation; janus kinase 2; case report; retina; lymphoma, large b-cell, diffuse; ophthalmology; uveitis; jak2 protein, human; diffuse large b cell lymphoma; vitrectomy; humans; human; female; panuveitis
Journal Title: BMJ Case Reports
Volume: 15
Issue: 12
ISSN: 1757-790X
Publisher: BMJ Publishing Group Ltd.  
Date Published: 2022-12-01
Start Page: e253572
Language: English
DOI: 10.1136/bcr-2022-253572
PUBMED: 36593595
PROVIDER: scopus
PMCID: PMC9723887
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85145491546&doi=10.1136%2fbcr-2022-253572&partnerID=40&md5=e141f6f5ca16bc46fb07d246350b2ecc
Notes: Article -- Export Date: 1 February 2023 -- Source: Scopus
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MSK Authors
  1. Christian Grommes
    150 Grommes
  2. Maria Diaz Ordonez
    16 Diaz Ordonez
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