Page 157 - Haematologica Vol. 107 - September 2022

ARTICLE - Use of aqueous humor in VRL management
X. Wang et al.
nome, hg19, using the Burrows-Wheeler Aligner. The Ge- nome Analysis Toolkit (GATK 3.4.0) was used to perform local realignment around indels and base quality score re- calibration. Picard was used to remove polymerase chain reaction duplicates. VarScan2 was used to detect single- nucleotide variants and insertion/deletion mutations. A mutant allele frequency cutoff of 1% was used for tissue samples and 0.3% for cfDNA samples. ADTEx was used to identify copy number variations with a normal human DNA sample, NA18535. A cutoff log2 ratio was set at ±0.6 for copy number changes (corresponding to a 1.5-fold copy number gain and 0.65-fold copy number loss).
Results
Overview of the patients with vitreoretinal lymphoma
As shown in Table 1, a total of 15 VRL patients were en- rolled in this study with a median age of 56 years (range, 38-68 years). Almost all patients (14/15) had binocular disease. Vitreous involvement was more frequent than
Table 1. Patients’ characteristics.
Characteristics
VRL
PCNSL
Total number
15
23
Age in years, median (range)
56 (38-68)
58 (28-83)
Sex, N (%) Male
Female
8 (53.3) 7 (46.7)
11 (47.8) 12 (52.2)
Location, N (%) Vitreous Subretinal
11* (73.3) 8* (53.3)
- -
Subtype, N (%) Primary VRL (%)
No brain involvement
Subsequent brain involvement Synchronous VRL and PCNSL
13 (86.7) 11 (84.6) 2 (15.4) 2 (13.3)
- -
Treatment, N (%)
Systemic treatment with ibrutinib Local ocular treatment
7 (46.7) 8 (53.3)
17 (73.9) 6 (26.1)
*Four patients had both vitreous and subretinal involvement. VRL: vitreoretinal lymphoma; PCNSL: primary central nervous system lymphoma.
A
B
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Figure 1. Overview of the patients’ char- acteristics and study design. (A) The availability of samples from all enrolled patients, as well as ibrutinib treatment information are shown as indicated in the legend. The molecular features of the most prevalent gene alterations detected in baseline samples are also provided. (B) An illustration of sampling aqueous humor, vitreous fluid, and cerebrospinal fluid is shown on the left. The four aims of this study are listed on the right. ID: identity; VRL: vitreoretinal lymphoma; PCNSL: primary central nervous system lymphoma; AH: aqueous humor; VF: vit- reous fluid; CSF: cerebrospinal fluid; NGS: next-generation sequencing.