Correlation between magnetic resonance imaging characteristics and BRAF alteration status in individuals with optic pathway/hypothalamic pilocytic astrocytomas

Background and purposeMost individuals with optic pathway/hypothalamic pilocytic astrocytoma (OPHPA) harbor either the BRAF V600E mutation or KIAA1549-BRAF fusion (K-B). This study aimed to investigate the imaging characteristics of OPHPA in relation to BRAF alteration status.Materials and methodsSeven cases of OPHPA harboring either the BRAF V600E mutation or K-B fusion were included in the study. Preoperative magnetic resonance imaging (MRI) was assessed for degree of T2 hyperintensity on T2-weighted images (T2WI) and the ratio of nonenhancing T2 or fluid-attenuated inversion recovery (FLAIR) hyperintense area to the contrast enhanced area (CE) on gadolinium-enhanced-T1 weighted images (T2/FLAIR-CE mismatch). The T2 signal intensity was normalized to cerebrospinal fluid (T2/CSF) for both the V600E and K-B group and compared. T2/FLAIR-CE mismatch was assessed by calculating the proportion of the tumor volume of nonenhancing high T2 signal intensity to the whole lesion (nonenhancing and enhancing components).ResultsFour and three cases of OPHPA harboring the BRAF V600E mutation and K-B, respectively, were analyzed. The T2/CSF value was higher in the K-B group than in the V600E group. Moreover, the V600E group had a larger T2/FLAIR-CE mismatch than the K-B group.ConclusionsThe BRAF alteration status in individuals with OPHPA was associated with preoperative MRI by focusing on T2 signal intensity and T2/FLAIR-CE mismatch. The BRAF V600E mutation was associated with a lower T2/CSF value and larger T2/FLAIR-CE mismatch, whereas K-B fusion was associated with a higher T2/CSF value and smaller T2/FLAIR-CE mismatch.     

Endovascular Treatment of Spinal Vascular Lesion in Japan: Japanese Registry of Neuroendovascular Therapy (JR-NET) and JR-NET2

A subgroup analysis of spinal vascular lesions in the Japanese Registry of Neuroendovascular Therapy (JR-NET) and JR-NET2, retrospective registry studies conducted in 2005–2009, was performed to understand the current status of treatment in Japan. Of 201 spinal lesions enrolled, 98 analyzable cases of spinal dural arteriovenous fistula (SDAVF), 43 of spinal perimedullary arteriovenous fistula (SPAVF), and 23 of spinal intramedullary arteriovenous malformation (SIAVM) were assessed. Treatment was radical in the majority (83.6%) of SDAVF, palliative in the majority (70.6%) of SIAVM, and radical and palliative in a similar number of cases of SPAVF. Total occlusion was achieved in 26 (54.2%) SDAVF cases, 9 (29.0%) SPAVF, and 4 (23.5%) SIAVM. Treatment-related complications occurred in 3 (3.1%) SDAVF cases, 7 (16.3%) SPAVF, and 1 (4.3%) SIAVM. Post-treatment neurological improvement was achieved in 49 (50.0%) of SDAVF cases, 15 (34.9%) SPAVF, and 5 (21.7%) SIAVM. The modified Rankin Scale (mRS) of 0, 1, or 2 on postoperative day 30, the primary endpoint, was achieved in 62 (63.3%) SDAVF cases, 26 (60.5%) SPAVF, and 12 (52.2%) SIAVM. The mRS of 0–2 on postoperative day 30 was correlated with pre-symptomatic mRS of 0–2 [P < 0.0001, odds ratio (OR): 42.88, 95% confidence interval (CI): 14.83–123.97] and postoperative neurological improvement (P = 0.046, OR: 2.57, 95% CI: 1.02–6.48). In Japan, endovascular treatment of spinal vascular lesions was administered safely. Good mRS on postoperative day 30 was highly correlated with good pre-symptomatic mRS, suggesting necessity of early diagnosis and treatment.     

Selective expansion of donor‐derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome

IPEX syndrome is a rare and fatal disorder caused by absence of regulatory T cells (Tregs) due to congenital mutations in the Forkhead box protein 3 gene. Here, we report a patient with IPEX syndrome treated with RIC followed by allogeneic BMT from an HLA‐matched sibling donor. We could achieve engraftment and regimen‐related toxicity was well tolerated. Although the patient was in mixed chimera and the ratio of donor cells in whole peripheral blood remained relatively low, selective and sustained expansion of Tregs determined as CD4+CD25+Foxp3+ cells was observed. Improvement in clinical symptoms was correlated with expansion of donor‐derived Tregs and disappearance of anti‐villin autoantibody, which was involved in the pathogenesis of gastrointestinal symptoms in IPEX syndrome. This clinical observation suggests that donor‐derived Tregs have selective growth advantage in patients with IPEX syndrome even in mixed chimera after allogeneic BMT and contribute to the control of clinical symptoms caused by the defect of Tregs.