Table 1

Clinicopathologic data of VRL patients from test cohort

Age (y)SexInitial diagnosisCommentsMYD88 statusB-cell clonalityCellularity
VRL with CNS involvement        
 1A 71 DLBCL  p.L265P mono 
 1B   DLBCL  p.L265P poly 
 2 55 DLBCL  WT mono 
 3A 58 DLBCL  WT mono 
 3B   DLBCL  WT mono — 
 4 77 DLBCL  WT oligo 
 5A 82 Reactive  WT* NE 
 5B   DLBCL  p.P258L c.772 C>T mono 
 6A 62 Reactive DLBCL diagnosed in CNS biopsy, history of breast cancer p.L265P poly 
 6B   Reactive  p.L265P poly 
 6C   Reactive  p.L265P poly NE 
 7 57 Reactive History of Hodgkin lymphoma p.L265P poly 
 8 45 Suspicious for lymphoma  p.L265P mono 
Primary VRL without CNS involvement        
 9 70 DLBCL  p.L265P mono 
 10 76 DLBCL  p.L265P mono 
 11 49 DLBCL  p.L265P NE 
 12 72 DLBCL  p.L265P mono 
 13 72 DLBCL  p.L265P mono 
 14 72 DLBCL  WT mono 
 15 44 Suspicious for lymphoma DLBCL diagnosed in choroid biopsy WT mono 
 16 80 Suspicious for lymphoma DLBCL diagnosed in choroid biopsy WT mono 
 17 85 Suspicious for lymphoma  p.L265P mono 
 18 86 Reactive  p.L265P NE 
Secondary VRL without CNS involvement        
 19 72 DLBCL Testicular DLBCL 10 y previously p.L265P mono 
 20 73 Intraocular involvement by MZL MZL of the conjunctiva WT mono 
 21 53 Suspicious for lymphoma Testicular DLBCL 2 y previously p.L265P mono 
Age (y)SexInitial diagnosisCommentsMYD88 statusB-cell clonalityCellularity
VRL with CNS involvement        
 1A 71 DLBCL  p.L265P mono 
 1B   DLBCL  p.L265P poly 
 2 55 DLBCL  WT mono 
 3A 58 DLBCL  WT mono 
 3B   DLBCL  WT mono — 
 4 77 DLBCL  WT oligo 
 5A 82 Reactive  WT* NE 
 5B   DLBCL  p.P258L c.772 C>T mono 
 6A 62 Reactive DLBCL diagnosed in CNS biopsy, history of breast cancer p.L265P poly 
 6B   Reactive  p.L265P poly 
 6C   Reactive  p.L265P poly NE 
 7 57 Reactive History of Hodgkin lymphoma p.L265P poly 
 8 45 Suspicious for lymphoma  p.L265P mono 
Primary VRL without CNS involvement        
 9 70 DLBCL  p.L265P mono 
 10 76 DLBCL  p.L265P mono 
 11 49 DLBCL  p.L265P NE 
 12 72 DLBCL  p.L265P mono 
 13 72 DLBCL  p.L265P mono 
 14 72 DLBCL  WT mono 
 15 44 Suspicious for lymphoma DLBCL diagnosed in choroid biopsy WT mono 
 16 80 Suspicious for lymphoma DLBCL diagnosed in choroid biopsy WT mono 
 17 85 Suspicious for lymphoma  p.L265P mono 
 18 86 Reactive  p.L265P NE 
Secondary VRL without CNS involvement        
 19 72 DLBCL Testicular DLBCL 10 y previously p.L265P mono 
 20 73 Intraocular involvement by MZL MZL of the conjunctiva WT mono 
 21 53 Suspicious for lymphoma Testicular DLBCL 2 y previously p.L265P mono 

CNS, central nervous system; DLBCL, diffuse large B-cell lymphoma; mono, monoclonal; MZL, extranodal marginal zone B-cell lymphoma; NE, not evaluable; oligo, oligoclonal; poly, polyclonal; VRL, vitreoretinal lymphoma; WT, wild type.

A and B denote vitreous samples obtained at different time points.

Cellularity: 1, low; 2, medium; 3, high.

*

This sample was WT for the L265P mutation and also showed WT sequence for MYD88 exons 3 and 4, probably because of low tumor cell content.

The primary testicular lymphomas of both patients showed the presence of MYD88 L265P mutation.

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