title: High frequency of MYD88 mutations in vitreoretinal B-cell lymphoma: a valuable tool to improve diagnostic yield of vitreous aspirates.
abstract: Vitreoretinal diffuse large B-cell lymphoma is a rare disorder, occurring as primary ocular disease or as secondary involvement by primary central nervous system lymphoma. It is usually diagnosed by cytologic, immunocytochemical, and molecular examination of vitreous aspirates. However, distinguishing vitreoretinal diffuse large B-cell lymphoma from uveitis remains difficult, and clonality analysis may be either unsuccessful or misleading. Diffuse large B-cell lymphoma arising in immune-privileged sites (eg, the central nervous system) shows a high frequency of MYD88 mutations. Therefore, we retrospectively assessed the frequency of MYD88 mutations in vitreoretinal lymphoma (VRL) and their diagnostic potential in 75 vitrectomy samples of 69 patients, and validated our results in a separate cohort (n = 21). MYD88 mutations were identified in 20 of 29 (69%) clinically, histologically, and molecularly confirmed VRL, including 6 cases of the test cohort initially diagnosed as reactive (3/6) or suspicious (3/6) for lymphoma. MYD88 mutations, especially L265P, are very frequent in VRL and their detection significantly improves the diagnostic yield of vitrectomy specimens.
authors.affiliation: Institute of Pathology and Neuropathology and.
authors.forename: Irina
authors.initials: I
authors.lastname: Bonzheim
authors.affiliation: Institute of Pathology and Neuropathology and.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giese
authors.affiliation: Centre of Ophthalmology, University Hospital Tübingen, Tübingen, Germany;
authors.forename: Christoph
authors.initials: C
authors.lastname: Deuter
authors.affiliation: Centre of Ophthalmology, University Hospital Tübingen, Tübingen, Germany;
authors.forename: Daniela
authors.initials: D
authors.lastname: Süsskind
authors.affiliation: Centre of Ophthalmology, University Hospital Tübingen, Tübingen, Germany;
authors.forename: Manfred
authors.initials: M
authors.lastname: Zierhut
authors.affiliation: Department of Ophthalmology, Knappschaftkrankenhaus Saar, Sulzbach, Germany; and.
authors.forename: Maria
authors.initials: M
authors.lastname: Waizel
authors.affiliation: Department of Ophthalmology, Knappschaftkrankenhaus Saar, Sulzbach, Germany; and.
authors.forename: Peter
authors.initials: P
authors.lastname: Szurman
authors.affiliation: Institute of Pathology and Neuropathology and.
authors.forename: Birgit
authors.initials: B
authors.lastname: Federmann
authors.affiliation: Institute of Pathology and Neuropathology and.
authors.forename: Janine
authors.initials: J
authors.lastname: Schmidt
authors.affiliation: Institute of Pathology and Neuropathology and.
authors.forename: Leticia
authors.initials: L
authors.lastname: Quintanilla-Martinez
authors.affiliation: Department of Molecular & Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, Liverpool, United Kingdom.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Coupland
authors.affiliation: Centre of Ophthalmology, University Hospital Tübingen, Tübingen, Germany;
authors.forename: Karl Ulrich
authors.initials: KU
authors.lastname: Bartz-Schmidt
authors.affiliation: Institute of Pathology and Neuropathology and.
authors.forename: Falko
authors.initials: F
authors.lastname: Fend
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics; D001707:Biopsy, Needle; D015331:Cohort Studies; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D005787:Gene Frequency; D006801:Humans; D016393:Lymphoma, B-Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics*; D012160:Retina / Q000473:pathology*; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D014821:Vitrectomy / Q000379:methods; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88