Background: We compared the immunoglobulin (IG) heavy chain (IGH) leader and FR1 primer sets to measure clone sizes and detect immunoglobulin heavy chain variable (IGHV) region somatic hypermutations (SHMs) in Korean patients with chronic lymphocytic leukemia (CLL). We also analyzed IGH and immunoglobulin kappa (IGK) to identify Korean-specific IGs in CLL. Methods: Next-generation sequencing (NGS)–based gene rearrangements and IGHV SHMs were assessed in 40 patients using IGH leader, IGH FR1, and IGK primers. Flow cytometry, karyotyping, interphase FISH, and NGS-based variant analyses were performed for 165 genes. Results: Clonal IGH and IGK rearrangements were detected in 100.0% and 97.5% of patients, respectively. Clonal size was generally smaller per NGS than per flow cytometry, particularly when using the IGH leader (median: 52.5%) versus the IGH FR1 primer set (73.2%). IGHV SHMs occurred in approximately 70% of patients; 10% showed primer set discrepancies. The incidence of IGHV SHMs was low in patients at high risk (i.e., with TP53 abnormalities; complex karyotypes; and ATM, NOTCH1, SF3B1, or BIRC3 variants). IGHV3 was the most common IGHV (58.3%), and IGHV4-34 was most frequently identified (14.6%). IGHV1 and IGHV1-69 usage differed significantly between Koreans and westerners. IGHJ4 was the most common IGHJ (56.3%). A single IGKV–IGKJ gene rearrangement was most frequently observed (18.9%), whereas intron-KDE was the most common rearrangement (30.6%). Conclusions NGS may underestimate CLL clonal size, particularly when using the IGH leader primer set. IGHV SHMs were inversely associated with negative prognostic factors.Our data suggest ethnic differences in CLL pathogenesis.

Purpose: We describe the clinical features of patients with rhinogenic optic neuropathy caused by paranasal sinus disease. Methods: Nine patients (11 eyes) diagnosed with rhinogenic optic neuropathy were retrospectively reviewed. All exhibited sphenoid or posterior ethmoid sinus lesions on magnetic resonance imaging and corresponding visual acuity or visual field defects. Patients with other causes of optic neuropathy were excluded. We recorded symptoms and symptom durations, best-corrected visual acuity, relative afferent pupillary defects, color vision test results, fundus morphology, optical coherence tomographic data, and visual field test results before and after endoscopic sinus surgery. Results: The involved sinuses were the sphenoid alone (five eyes), posterior ethmoid alone (two eyes), and both (four eyes). The underlying sinus pathologies included six eyes with sinusitis and three with mucoceles. The best-corrected visual acuity exceeded 20/40 for nine eyes, the color vision test results were normal for all eyes, and relative afferent pupillary defects were noted in three eyes of unilaterally affected patients. The Humphrey visual field test revealed paracentral scotomas (three eyes, 27.3%), nasal defects related to the vertical meridian (three eyes, 27.3%), arcuate defects (two eyes, 18.2%), and a horizontal altitudinal defect (one eye, 9.1%). Six patients underwent endoscopic sinus surgery. Three patients who underwent early interventions (within 4 weeks of onset) experienced full visual recovery. Conclusions In patients with suspected optic neuropathy, a paranasal sinus lesion adjacent to the optic canal should be considered. Prompt diagnosis and early intervention (endoscopic sinus surgery) are recommended for patients with rhinogenic optic neuropathy to reduce the incidences of visual loss and visual field defects.

Purpose: We describe the clinical features of patients with rhinogenic optic neuropathy caused by paranasal sinus disease. Methods: Nine patients (11 eyes) diagnosed with rhinogenic optic neuropathy were retrospectively reviewed. All exhibited sphenoid or posterior ethmoid sinus lesions on magnetic resonance imaging and corresponding visual acuity or visual field defects. Patients with other causes of optic neuropathy were excluded. We recorded symptoms and symptom durations, best-corrected visual acuity, relative afferent pupillary defects, color vision test results, fundus morphology, optical coherence tomographic data, and visual field test results before and after endoscopic sinus surgery. Results: The involved sinuses were the sphenoid alone (five eyes), posterior ethmoid alone (two eyes), and both (four eyes). The underlying sinus pathologies included six eyes with sinusitis and three with mucoceles. The best-corrected visual acuity exceeded 20/40 for nine eyes, the color vision test results were normal for all eyes, and relative afferent pupillary defects were noted in three eyes of unilaterally affected patients. The Humphrey visual field test revealed paracentral scotomas (three eyes, 27.3%), nasal defects related to the vertical meridian (three eyes, 27.3%), arcuate defects (two eyes, 18.2%), and a horizontal altitudinal defect (one eye, 9.1%). Six patients underwent endoscopic sinus surgery. Three patients who underwent early interventions (within 4 weeks of onset) experienced full visual recovery. Conclusions In patients with suspected optic neuropathy, a paranasal sinus lesion adjacent to the optic canal should be considered. Prompt diagnosis and early intervention (endoscopic sinus surgery) are recommended for patients with rhinogenic optic neuropathy to reduce the incidences of visual loss and visual field defects.