T1 Hypointense Research Articles

I saw the “sea anemone” sign: Puffy face of borderline ovarian tumors

The sea anemone sign is a radiologic sign seen on magnetic resonance imaging (MRI) studies that indicates the morphological development of serous borderline ovarian tumors (SBOTs), as papillary projections originating from the wall of the cystic lesion. The presence of T2 hypointense fibrous stroma in the center of the papilla is a helpful tip in the diagnosis of SBOTs. Those projections might also be assumed to have a frond-like appearance which can be seen as branching papillary projections, especially on T2-weighted imaging.The term “sea anemone” sign is described by Tanaka et al. who deemed it as a “hallmark” feature of surface SBOTs.

Breast Hemangiomas: Imaging Features With Histopathology Correlation.

Breast hemangiomas are rare benign vascular lesions. In a previously performed review of approximately 10,000 breast surgical pathology results, roughly 0.15% (15/~10 000) were hemangiomas. Hemangiomas are more frequent in women and have a documented age distribution of 1.5 to 82 years. They are most often subcutaneous or subdermal and anterior to the anterior mammary fascia but may rarely be seen in the pectoralis muscles or chest wall. On imaging, breast hemangiomas typically present as oval or round masses, often measuring less than 2.5 cm, with circumscribed or mostly circumscribed, focally microlobulated margins, equal or high density on mammography, and variable echogenicity on US. Calcifications, including phleboliths, can be seen. Color Doppler US often shows hypovascularity or avascularity. MRI appearance can vary, although hemangiomas are generally T2 hyperintense and T1 hypointense with variable enhancement. Pathologic findings vary by subtype, which include perilobular, capillary, cavernous, and venous hemangiomas. If core biopsy pathology results are benign, without atypia, and concordant with imaging and clinical findings, surgical excision is not routinely indicated. Because of histopathologic overlap with well-differentiated or low-grade angiosarcomas, surgical excision may be necessary for definitive diagnosis. Findings that are more common with angiosarcomas include size greater than 2 cm, hypervascularity on Doppler US, irregular shape, and invasive growth pattern.

Brain magnetic resonance imaging and computed tomography findings in cats and dogs with central nervous system cryptococcosis in Australia: 23 cases (2009-2020).

To describe the imaging findings in Australian cats and dogs with CNS cryptococcosis. 23 cases (10 cats; 13 dogs) with CNS cryptococcosis and brain MRI or CT studies available to review. Retrospective, multi-institutional case series. Brain MRI or CT studies were reviewed by a board-certified radiologist. Imaging findings were described and the differences between cats and dogs explored. Morphologic features were consistent with extra-axial lesions in all (n = 13) dogs and either intra-axial (5/10) or extra-axial (4/10) lesions in cats, with 1 cat having no detectable lesions in low-field brain MRI scans. Meningeal abnormalities were most common, followed by forebrain and cerebellar lesions. Intracranial MRI lesions were typically T2 hyperintense and T1 hypo- to isointense. Four cases had T2 hypointense lesions affecting the brain, sinonasal cavity, or regional lymph nodes. Intracranial CT lesions were mostly soft tissue attenuating. Contrast enhancement was present in all cases with contrast series available, with ring enhancement shown only in cats. Osteolysis was more common in dogs than cats, particularly affecting the cribriform plate. All 13 dogs and many (6/10) cats had at least 1 lesion affecting sinonasal or contiguous tissues, and locoregional lymphadenomegaly was common (7/10 cats; 11/13 dogs). Imaging lesions in cryptococcal meningoencephalitis were extra-axial in dogs but could be intra-axial or extra-axial in cats. Careful examination for extracranial lesions (sinonasal, retrobulbar, facial soft tissue, tympanic bullae, or locoregional lymph nodes) is important to provide alternative safe biopsy sites. T2 hypointense lesions, while rare, should prompt consideration of cryptococcosis.

High-Grade Astrocytoma with Piloid Features: A Dual Institutional Review of Imaging Findings of a Novel Entity.

High-grade astrocytoma with piloid features (HGAP) is a recently identified brain tumor characterized by a distinct DNA methylation profile. Predominantly located in the posterior fossa of adults, HGAP is notably prevalent in individuals with neurofibromatosis type 1. We present an image-centric review of HGAP and explore the association between HGAP and neurofibromatosis type 1. Data were collected from 8 HGAP patients treated at two tertiary care institutions between January 2020 and October 2023. Demographic details, clinical records, management, and tumor molecular profiles were analyzed. Tumor characteristics, including location and imaging features on MR imaging, were reviewed. Clinical or imaging features suggestive of neurofibromatosis 1 or the presence of NF1 gene alteration were documented. The mean age at presentation was 45.5 years (male/female = 5:3). Tumors were midline, localized in the posterior fossa (n = 4), diencephalic/thalamic (n = 2), and spinal cord (n = 2). HGAP lesions were T1 hypointense, T2-hyperintense, mostly without diffusion restriction, predominantly peripheral irregular enhancement with central necrosis (n = 3) followed by mixed heterogeneous enhancement (n = 2). Two NF1 mutation carriers showed signs of neurofibromatosis type 1 before HGAP diagnosis, with one diagnosed during HGAP evaluation, strengthening the HGAP-NF1 link, particularly in patients with posterior fossa masses. All tumors were IDH1 wild-type, often with ATRX, CDKN2A/B, and NF1 gene alteration. Six patients underwent surgical resection followed by adjuvant chemoradiation. Six patients were alive, and two died during the last follow-up. Histone H3 mutations were not detected in our cohort, such as the common H3K27M typically seen in diffuse midline gliomas, linked to aggressive clinical behavior and poor prognosis. HGAP lesions may involve the brain or spine and tend to be midline or paramedian in location. Underlying neurofibromatosis type 1 diagnosis or imaging findings are important diagnostic cues.

A novel MRI-based diagnostic model for predicting placenta accreta spectrum

Objective To develop and evaluate a diagnostic model based on MRI signs for predicting placenta accreta spectrum.Materials and Methods A total of 155 pregnant women were included in this study, randomly divided into 104 cases in the training set and 51 cases in the validation set. There were 93 Non-PAS cases, and 62 cases in the PAS group. The training set included 62 Non-PAS cases and 42 PAS cases. Clinical factors and MRI signs were collected for univariate analysis. Then, binary logistic regression analysis was used to develop independent diagnostic models with clinical relevant risk factors or MRI signs, as well as those combining clinical risk factors and MRI signs. The ROC curve analysis was used to evaluate the diagnostic performance of each diagnostic model. Finally, the validation was performed with the validation set.Results In the training set, four clinical factors (gestity, parity, uterine surgery history, placental position) and 11 MRI features (T2-dark bands, placental bulge, T2 hypointense interface loss, myometrial thinning, bladder wall interruption, focal exophytic mass, abnormal placental bed vascularization, placental heterogeneity, asymmetric placental thickening/shape, placental ischemic infarction, abnormal intraplacental vascularity) were considered as risk factors for PAS. The AUC of the clinical diagnostic model, MRI diagnostic model, and clinical + MRI model of PAS were 0.779, 0.854, and 0.874, respectively. In the validation set, the AUC of the clinical diagnostic model, MRI diagnostic model, and clinical + MRI model of PAS were 0.655, 0.728, and 0.735, respectively.Conclusion Diagnosis model based on MRI features in this study can well predict placenta accreta spectrum.

T1 hypointense brain lesions in NMOSD and its relevance with disability: a single institution cross-sectional study

BackgroundT1 hypointense lesions are considered a surrogate marker of tissue destruction. Although there is a shortage of evidence about T1 hypointense brain lesions, black holes, in patients with Neuromyelitis Optica Spectrum Disorder (NMOSD), the clinical significance of these lesions is not well determined.ObjectivesThe impact of T1 hypointense brain lesions on the clinical status and the disability level of patients with NMOSD was sought in this study.MethodsA total of 83 patients with the final diagnosis of NMOSD were recruited.Aquaporin-4 measures were collected. The expanded disability status scale (EDSS) and MRI studies were also extracted.T1 hypointense and T2/FLAIR hyperintense lesions were investigated. The correlation of MRI findings, AQP-4, and EDSS was assessed.ResultsT1 hypointense brain lesions were detected in 22 patients. Mean ± SD EDSS was 3.7 ± 1.5 and significantly higher in patients with brain T1 hypointense lesions than those without them (p-value = 0.01). Noticeably, patients with more than four T1 hypointense lesions had EDSS scores ≥ 4. The presence of T2/FLAIR hyperintense brain lesions correlated with EDSS (3.6 ± 1.6 vs 2.3 ± 1.7; p-value = 0.01). EDSS was similar between those with and without positive AQP-4 (2.7 ± 1.6 vs. 3.2 ± 1.7; p-value = 0.17). Also, positive AQP-4 was not more prevalent in patients with T1 hypointense brain lesions than those without them (50.9 vs 45.4%; p-value = 0.8).ConclusionWe demonstrated that the presence of the brain T1-hypointense lesions corresponds to a higher disability level in NMOSD.

Diffusion basis spectrum imaging and diffusion tensor imaging predict persistent black hole formation in multiple sclerosis

Background and objectivesDiffusion basis spectrum imaging (DBSI) extracts multiple anisotropic and isotropic diffusion tensors, providing greater histopathologic specificity than diffusion tensor imaging (DTI). Persistent black holes (PBH) represent areas of severe tissue damage in multiple sclerosis (MS), and a high PBH burden is associated with worse MS disability. This study evaluated the ability of DBSI and DTI to predict which acute contrast-enhancing lesions (CELs) would persist as T1 hypointensities (i.e. PBHs) 12 months later. We expected that a higher radial diffusivity (RD), representing demyelination, and higher DBSI-derived isotropic non-restricted fraction, representing edema and increased extracellular space, of the acute CEL would increase the likelihood of future PBH development. MethodsIn this prospective cohort study, relapsing MS patients with ≥1 CEL(s) underwent monthly MRI scans for 4 to 6 months until gadolinium resolution. DBSI and DTI metrics were quantified when the CEL was most conspicuous during the monthly scans. To determine whether the CEL became a PBH, a follow-up MRI was performed at least 12 months after the final monthly scan. ResultsThe cohort included 20 MS participants (median age 33 years; 13 women) with 164 CELs. Of these, 59 (36 %) CELs evolved into PBHs. At Gd-max, DTI RD and AD of all CELs increased, and both metrics were significantly elevated for CELs which became PBHs, as compared to non-black holes (NBHs). DTI RD above 0.74 conferred an odds ratio (OR) of 7.76 (CI 3.77–15.98) for a CEL becoming a PBH (AUC 0.80, CI 0.73–0.87); DTI axial diffusivity (AD) above 1.22 conferred an OR of 7.32 (CI 3.38–15.86) for becoming a PBH (AUC 0.75, CI 0.66–0.83). DBSI RD and AD did not predict PBH development in a multivariable model. At Gd-max, DBSI restricted fraction decreased and DBSI non-restricted fraction increased in all CELs, and both metrics were significantly different for CELs which became PBHs, as compared to NBHs. A CEL with a DBSI non-restricted fraction above 0.45 had an OR of 4.77 (CI 2.35–9.66) for becoming a PBH (AUC 0.74, CI 0.66–0.81); a CEL with a DBSI restricted fraction below 0.07 had an OR of 9.58 (CI 4.59–20.02) for becoming a PBH (AUC 0.80, 0.72–0.87). ConclusionOur findings suggest that greater degree of edema/extracellular space in a CEL is a predictor of tissue destruction, as evidenced by PBH evolution.

Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson's disease.

Wilson's disease (WD) is associated with a variety of movement disorders and progressive neurological dysfunction. The aim of this study was to correlate baseline brain magnetic resonance imaging (MRI) features with clinical phenotype and long-term outcomes in chronically treated WD patients. Patients were retrospectively selected from an institutional database. Two experienced neuroradiologists reviewed baseline brain MRI. Functional assessment was performed using the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) scale, and disease severity was classified using the Global Assessment Scale for Wilson's Disease (GASWD). Of 27 patients selected, 14 were female (51.9%), with a mean (standard deviation [SD]) age at onset of 19.5 (7.1) years. Neurological symptoms developed in 22 patients (81.5%), with hyperkinetic symptoms being the most common (70.4%). Baseline brain MRI showed abnormal findings in 18 cases (66.7%), including T2 hyperintensities in 59.3% and atrophy in 29.6%. After a mean (SD) follow-up of 20.9 (11.0) years, WD patients had a mean score of 19.2 (10.2) on WHODAS 2.0 and 6.4 (5.7) on GASWD. The presence of hyperkinetic symptoms correlated with putaminal T2 hyperintensities (p = 0.003), putaminal T2 hypointensities (p = 0.009), and mesencephalic T2 hyperintensities (p = 0.009). Increased functional disability was associated with brain atrophy (p = 0.007), diffusion abnormalities (p = 0.013), and burden of T2 hyperintensities (p = 0.002). A stepwise regression model identified atrophy as a predictor of increased WHODAS 2.0 (p = 0.023) and GASWD (p = 0.007) scores. Atrophy and, to a lesser extent, deep T2 hyperintensity are associated with functional disability and disease severity in long-term follow-up of WD patients.

P-49 Unexpected spontaneous evolution of a symptomatic Rathke's cleft cyst

Abstract Introduction Rathke's cleft cysts (RCCs) are relatively rare sellar and suprasellar lesions that arise from remnants of Rathke's pouch, an embryonic precursor to the anterior pituitary gland. These cysts are often found incidentally during neuroimaging studies for unrelated issues. Despite their non-neoplastic nature, RCCs can lead to a spectrum of clinical manifestations due to their potential to compress surrounding structures, including the pituitary gland, optic chiasm, and adjacent neurovascular structures. However, the majority of Rathke's cysts will remain asymptomatic and typically do not necessitate any medical intervention. Instances of spontaneous regression of these cysts are infrequent, and cases of regression occurring after a recurrence are exceptionally rare. Clinical Case The patient is a 57-year-old individual with a medical history of well-controlled type 2 diabetes and high blood pressure. Additionally, the patient had a history of right ocular trauma in 1989 resulting in a decrease of visual acuity. The patient presented with persistent chronic headaches, leading to the detection of a Rathke's cleft cyst as revealed by a pituitary MRI showing a cystic structure measuring 15×11 mm in the sellar region. The cyst displayed a predominant left-sided lateralization and was characterized by T1 hypointensity as well as T2 hyperintensity. No enhancement was observed on post-gadolinium contrast injection. The cyst exerted a mass effect on the optic chiasm. Hypophyseal axis assessment revealed intact function. Notably, the patient exhibited significant visual field impairment in the right eye, marked by loss of the superior, nasal, and inferior fields, while the right visual field remained unaffected. The patient was managed conservatively based on the rationale that the visual disturbances were attributed to the ocular trauma and not linked to the RCC. Follow-up hypothalamo-hypophysial MRI conducted in April 2023 demonstrated complete spontaneous regression of the Rathke's cleft cyst, with an improvement of his chronic headache. Conclusion The natural history of RCCs is multifaceted leading to heterogenous outcomes ranging from volume progression with hormonal deficiencies and/or visual disturbances to stability over time to even spontaneous involution. The precise mechanism underlying the latter remains unclear. One possible explanation could involve disruptions in the equilibrium between the secretion and absorption of the cystic fluid, or even the potential occurrence of cyst rupture. The potential for involution or stability of the cyst is influenced by the cyst size. The likelihood of spontaneous involution advocates for a conservative strategy in cases of symptomatic RCCs where headaches are the sole presenting symptom.

Central intra-lesional iron deposits as a possible novel imaging marker at 7 Tesla MRI in Susac Syndrome - an exploratory study.

Susac syndrome (SuS) is a rare autoimmune disease that leads to hearing impairment, visual field deficits, and encephalopathy due to an occlusion of precapillary arterioles in the brain, retina, and inner ear. Given the potentially disastrous outcome and difficulties in distinguishing SuS from its differential diagnoses, such as multiple sclerosis (MS), our exploratory study aimed at identifying potential new SuS-specific neuroimaging markers. Seven patients with a definite diagnosis of SuS underwent magnetic resonance imaging (MRI) at 7 Tesla (7T), including T2* weighted and quantitative susceptibility mapping (QSM) sequences. T2 weighted hyperintense lesions were analyzed with regard to number, volume, localization, central vein sign, T1 hypointensity, and focal iron deposits in the center of SuS lesions ("iron dots"). Seven T MRI datasets from the same institute, comprising 75 patients with, among others, MS, served as controls. The "iron dot" sign was present in 71.4% (5/7) of the SuS patients, compared to 0% in our control cohort. Thus, sensitivity was 71.4% and specificity 100%. A central vein sign was only incidentally detected. We are the first to demonstrate this type of "iron dot" lesions on highly resolving 7T T2*w and QSM images in vivo as a promising neuroimaging marker of SuS, corroborating previous histopathological ex vivo findings.

Assessment of PSR as a Novel Parameter in Perfusion Imaging for CNS Tumor Characterization: An Observational Study

Introduction: Magnetic resonance imaging (MRI) has emerged as the primary modality for diagnosing and evaluating central nervous system (CNS) tumors, transitioning from structural to functional assessment. Advanced MRI techniques, including MR spectroscopy and perfusion imaging, offer insights into functional, metabolic, and hemodynamic changes in addition to structural abnormalities. The study aims to assess the role of PSR (Post-Contrast Signal Recovery) alongside rCBV (Relative Cerebral Blood Volume) and rPSR (Relative Percentage of Signal Recovery) in differentiating grade IV glioma, solitary brain metastasis, and primary CNS lymphoma. Materials and Methods: An observational study was conducted on 38 patients with lymphoma, metastases, and grade IV glioma, utilizing DSC (Dynamic Susceptibility-Weighted Contrast-Enhanced) perfusion imaging and histopathology reports. Sociodemographic, clinical, and MRI parameters were collected. PSR measurements were obtained from perfusion maps using dedicated software. Statistical analysis was performed using SPSS version 27.0. Results: Among the study population, the mean age was 54.16±12.47, with male predominance (63.2%). Conventional imaging characteristics revealed significant differences, including T2 hypo intensity in lymphoma and FLAIR hyperintensity in all gliomas. Perfusion parameters showed higher rCBV in metastases and grade IV glioma compared to lymphoma, whereas PSR and rPSR were higher in lymphoma. PSR and rPSR effectively differentiated among the tumor types (p<0.001). Conclusion: Our study underscores the critical role of advanced MRI techniques, particularly DSC perfusion imaging, in differentiating between grade IV gliomas, solitary brain metastases, and primary CNS lymphomas. PSR emerges as a valuable parameter alongside rCBV and rPSR, demonstrating potential for accurate tumor characterization.

Placenta Accreta Spectrum on MRI

Placenta accreta spectrum (PAS) refers to a range of abnormally adhesive and penetrative placental tissues in the myometrium. It is critical to diagnose PAS before delivery, as maternal morbidity/mortality can occur due to life-threatening hemorrhage. Ultrasound has traditionally been the first-line imaging modality for the diagnosis of PAS; however MRI is a useful supplemental modality in the workup and is a valuable tool in cases where ultrasound is limited or equivocal. It is also indicated in further assessment of PAS in cases with a positive ultrasound diagnosis. There are three main categories of MRI findings of PAS, all of which involve disruption of the normal anatomic appearance of the placenta/myometrium and include gross morphologic signs (placental bulge, bladder wall interruption, exophytic mass, rolled-up placental edge, and placental protrusion into the cervix), interface signs (myometrial thinning, loss of T2 hypointense interface, abnormal vascularization of the placental bed, and placental infarction), and architecture signs (T2 dark bands, abnormal intraplacental vascularity, and placental heterogeneity). It is important for radiologists to be aware of these signs, and potential MRI imaging pitfalls to avoid false diagnosis. Numerous studies are currently being conducted to improve the diagnosis of PAS on imaging, including investigations looking at dynamic contrast gadolinium enhancement and machine learning.

NaGdF4-based magnetic resonance nanoprobes for qualitative inflammation imaging in glioma: Hot or cold?

The ‘cold’ or ‘hot’ inflammatory status of glioblastoma (GBM) is closely related to the responsiveness of immunotherapy. Tumor-associated macrophages (TAMs) are the most abundant tumor infiltrating immune cells in the tumor microenvironment (TME) of GBM, which can be classified as pro- (M1-like) and anti-inflammatory (M2-like) phenotype. M1-like TAMs present in large amount in ‘hot’ TME and indicate better immunotherapeutic outcome, which secrete myeloperoxidase (MPO) to promote inflammation in host defense. Herein, magnetic resonance imaging (MRI) based Tyr-ANG-NaGdF4 nanoprobes, named as TAGs, with surface modification of ANG to target glioma and phenolic hydroxyl to sense MPO were developed, aiming to noninvasively visualize the ‘hot’ or ‘cold’ TME inflammatory status of GBM based on MRI. Rat C6 gliomas, which were histologically confirmed as MPO-enriched ‘hot’ TME, showed patchy hypointense T1 signal within the tumor after intravenous administration of TAGs, ascribing to the MPO responsive assembly of the nanoprobes which led to the T1 signal reverse. On the contrary, mouse GL261 gliomas, which was histologically confirmed as MPO-rare ‘cold’ TME, presented moderate hyperintensity in T1-weighted MRI. Therefore, the MPO responsive nanoprobes present potential means to monitor the TME inflammatory status for GBM patients thus guide clinical treatment.

Non-lesional white matter in relapsing-remitting multiple sclerosis assessed by multicomponent T2 relaxation.

The purpose of the study is to investigate, by T2 relaxation, non-lesional white matter (WM) in relapsing-remitting (RR) multiple sclerosis (MS). Twenty stable RR MS patients underwent 1.5T Magnetic Resonance Imaging (MRI) with 3D Fluid-Attenuated Inversion-Recovery (FLAIR), 3D-T1-weighted, and T2-relaxation multi-echo sequences. The Lesion Segmentation Tool processed FLAIR images to identify focal lesions (FLs), whereas T1 images were segmented to identify WM and FL sub-volumes with T1 hypo-intensity. Non-lesional WM was obtained as the segmented WM, excluding FL volumes. The multi-echo sequence allowed decomposition into myelin water, intra-extracellular water, and free water (Fw), which were evaluated on the segmented non-lesional WM. Correlation analysis was performed between the non-lesional WM relaxation parameters and Expanded Disability Status Scale (EDSS), disease duration, patient age, and T1 hypo-intense FL volumes. The T1 hypo-intense FL volumes correlated with EDSS. On the non-lesional WM, the median Fw correlated with EDSS, disease duration, age, and T1 hypo-intense FL volumes. Bivariate EDSS correlation of FL volumes and WM T2-relaxation parameters did not improve significance. T2 relaxation allowed identifying subtle WM alterations, which significantly correlated with EDSS, disease duration, and age but do not seem to be EDSS-predictors independent from FL sub-volumes in stable RR patients. Particularly, the increase in the Fw component is suggestive of an uninvestigated prodromal phenomenon in brain degeneration.

The kidney imaging surveillance scoring system (KISSS): using qualitative MRI features to predict growth rate of renal tumors in patients with von-Hippel Lindau (VHL) syndrome.

To determine the reliability of an MRI-based qualitative kidney imaging surveillance scoring system (KISSS) and assess which imaging features predict growth rate (GR) of renal tumors in patients with VHL. We identified 55 patients with VHL with 128 renal tumors who underwent intervention from 2015 to 2020 at the National Cancer Institute. All patients had 2 preoperative MRIs at least 3 months apart. Two fellowship-trained radiologists scored each tumor on location and MR-sequence-specific imaging parameters from the earlier MRI. Weighted kappa was used to determine the degree of agreement between radiologists for each parameter. GR was calculated as the difference in maximum tumor dimension over time (cm/year). Differences in mean growth rate (MGR) within categories of each imaging variable were assessed by ANOVA. Apart from tumor margin and renal sinus, reliability was at least moderate (K>0.40) for imaging parameters. Median initial tumor size was 2.1 cm, with average follow-up of 1.2 years. Tumor MGR was 0.42 cm/year. T2 hypointense, mixed/predominantly solid, and high restricted diffusion tumors grew faster. When comparing different combinations of these variables, the model with the lowest mean error among both radiologists utilized only solid/cystic and restricted diffusion features. We demonstrate a novel MR-based scoring system (KISSS) that has good precision with minimal training and can be applied to other qualitative radiology studies. A subset of imaging variables (T2 intensity; restricted diffusion; and solid/cystic) were independently associated with growth rate in VHL renal tumors, with the combination of the latter two most optimal. Additional validation, including in sporadic RCC population, is warranted.

SURG-36. CLINICO-RADIOLOGICAL PARAMETERS, MOLECULAR AND CHROMOSOMAL ALTERATIONS AFFECTING SURGICAL OUTCOME OF PETROCLIVAL MENINGIOMAS

Abstract Petroclival meningiomas were reviewed for correlation of extent of resection with clinico-radiological parameters and molecular/chromosomal alterations. 53 surgical procedures in 50 patients of petroclival meningioma were performed. Cavernous sinus and sellar extension were present in 37(69.8%) and 5(9.4%) respectively; contralateral extension in 10(20%). Modified anterior transpetrous rhomboid-MATRA (44=83.0%) was the most commonly used approach, followed by retrosigmoid (2=3.8%), and combined (7=13.2%) approaches. Hypointense tumors on T2-weighted MRI (OR:5.85;95%CI:1.70-20.41) and presence of brainstem edema (OR:4.53;95%CI:1.36-15.12) were found to be significant factors increasing the likelihood of subtotal resection-STR (p = 0.004 & p = 0.011 respectively). In the presence of both tumor T2-hypointensity and brainstem edema, there was significant increase in the likelihood of STR (p = 0.001;OR:25;95%CI:3.52-177.48). The most common cranial nerve to suffer new-onset deficit postoperatively was found to be VI nerve(19=35.8%) followed by V(9=16.9%) and VII(8=15.8%) nerves. On long-term follow-up, 38 patients had good outcome. Out of the 16 cases for which molecular analysis was performed, no specimen was found to have pTERT-C228T,C250T, AKT-1, E17K and SMO-L412F,W535L mutations. Eight (50.0%) cases showed H3K27me3 loss while 5 (31.25%) had hemizygous CDKN2A deletion. All(100%) patients harboring H3K27me3 loss and/or hemizygous CDKN2A deletion had cavernous sinus extension compared to 62.5% patients without H3K27me3 loss and 72.7% with hemizygous CDKN2A retention. Similarly, hemizygous CDKN2A deletion and H3K27me3 loss are associated with increase in the rate of brainstem edema from 27.3% to 60% and 25% to 50% respectively. Cases (n = 4) with both these alterations have 100% cavernous sinus extension and 75% chances of brainstem edema and lack of arachnoid plane. The MATRA is a versatile approach for petroclival meningiomas with good surgical outcome and acceptable complication rates. T2 hypointense tumor and brainstem edema on pre-operative imaging are significant predictors of STR. H3K27me3 loss and hemizygous CDKN2A deletion may be associated with cavernous sinus extension suggesting their role in tumor spread.

Magnetic Resonance Imaging–Aided SmartFlow Convection Delivery of DNX-2401: A Pilot, Prospective Case Series

The Combination Adenovirus+ Pembrolizumab to Trigger Immune Virus Effects (CAPTIVE) study is a phase II clinical trial testing the efficacy of a recombinant adenovirus DNX-2401 combined with the immune checkpoint inhibitor pembrolizumab. Here, we report the first patients in this study who underwent viral delivery through real-time magnetic resonance imaging (MRI) stereotaxis-guided SmartFlow convection delivery of DNX-2401. Patients who underwent real-time MRI-guided DNX-2401 delivery through the SmartFlow convection catheter were prospectively followed. Precise catheter placement was achieved in all patients treated, and no adverse events were noted. Average radial error from target was 0.9 mm. Average procedural time was 3 hours 16 minutes and was comparable to other convection-enhanced delivery techniques. In 2 patients, delivery of DNX-2401 was visualized as >1 cm maximal diameter of T1 hypointensity infusate on MRI obtained immediately after completion of viral infusion. These patients exhibited partial response based on Response Assessment in Neuro-Oncology assessment. The remaining patient showed <1 cm maximal diameter of infusate on immediate postinfusion MRI and showed disease progression on subsequent MRI. Our pilot case series supports compatibility of the SmartFlow system with oncolytic adenovirus delivery and provides the basis for future validation studies.

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sacsin. To provide new insight into the occurrence of SACS mutations in South India. Patients with three cardinal features of ARSACS-peripheral neuropathy, cerebellar ataxia, and pyramidal tract signs were included. Nine patients were clinically identified and genetically evaluated. Mutation screening of SACS by targeted sequencing of 40 recessive ataxia genes panel by next-generation sequencing was conducted. Additional investigations included magnetic resonance imaging (MRI), fundoscopy, optical coherence tomography (OCT) and nerve conduction studies (NCS). Functional disability was assessed by the Spinocerebellar Degeneration Functional Score. Two hundred and fifteen cerebellar ataxia patients were screened, and 9 patients with cerebellar ataxia with spasticity, peripheral neuropathy and MRI brain characteristics, consistent with a clinical diagnosis of ARSACS were identified, of which 7 patients were identified to have mutation in the SACS gene and are detailed hereafter. Age of presentation ranged from 20 to 55years (29.8 ± 11.9) with a mean disease duration of 12.7years (SD-7.65, range 5-22years). All except one had onset of symptoms in the form of an ataxic gait noticed before 20years of age. Additional features were subnormal intelligence (4/7), slow and hypometric saccades (1/7), seizures (1/7), kyphoscoliosis (1/7) and dysmorphic facies (1/7). SDFS was 3 in 5/7 patients signifying moderate disability with independent ambulation. MRI showed cerebellar atrophy with predominant atrophy of the superior vermis (7/7), horizontal linear T2 hypointensities in the pons(7/7), hyperintensities where lateral pons merges with the middle cerebellar peduncle (MCP) (7/7) well seen in fluid-attenuated inversion recovery (FLAIR) images, thickening of MCP (3/7), symmetric lateral thalamic hyperintensities (6/7), posterior fossa arachnoid cyst (4/7),thinning of posterior mid-body of corpus callosum (7/7), marginal mineralisation of the basal ganglia (7/7), bilateral parietal atrophy (7/7) and thinning of corticospinal tract on diffusion tensor imaging (DTI) (7/7). We identified pathogenic homozygous frameshift mutations in the SACS gene in six patients (including two siblings), while one patient had a heterozygous pathogenic deletion. This is the largest series of genetically confirmed ARSACS patients from India highlighting the clinical, ophthalmological, imaging and genetic features of this cohort.

A rare case of large retropharyngeal pre-vertebral chordoma presented as oropharyngeal swelling

Posterior oropharyngeal swelling can result from various pathologies, including chordomas. Chordoma is a notochordal remnant origin tumor. It is a rare bone and central nervous system tumor, especially in the cervical region. Chordoma is a tumor with properties such as slowly growing and frequently recur in most patients. This case report aims to comprehensively understand the clinical presentation and radiological features of a rare C2 retropharyngeal pre-vertebral chordoma. A 24-year-old male with a two-year history of dysphagia presented with progressively worsening symptoms, including dyspnea, dysphonia, and weight loss. On examination, a large mass was observed in the posterior oropharynx. Radiologically, a large soft tissue mass involves the C2 vertebral body, extending into the pre-vertebral soft tissue and compromising the airway. The mass appears hypointense in T1 weighted images, heterogeneously hyperintense in T2, and shows heterogeneous contrast enhancement. The chordoma was confirmed through histopathological analysis, showing characteristic physaliferous cells within a myxoid stroma. Posterior oropharyngeal masses require prompt and accurate evaluation. Radiological evaluation is crucial in identifying the tumor's origin, extent, and vascularity, aiding in diagnosis and treatment planning. Surgical resection is the primary treatment, but chordomas have a high recurrence rate even after complete removal. Radiotherapy can improve survival and reduce recurrence. This case highlights the importance of multidisciplinary collaboration in providing individualized care for rare chordoma presentations.

Haemorrhagic pituitary adenoma

Intra tumoral haemorrhage occurs frequently in pituitary macro adenomas. It can either manifest as pituitary apoplexy [1], a life threatening condition with sudden onset of headaches, nausea and vomiting; or as a silent recent or old haemorrhage. In the latter, like in our case, MR imaging is best to delineate these haemorrhagic changes. In fact, typical features are T1 and T2 hyperintensity (Figure 1A &amp; 1B), persisting in fat saturated sequences (Figure 1C) with peripheral enhancement (Figure 1D). Usually a subsequent cystic change occurs, responsible for a fluid-fluid level (Figure 1E). Among the differential diagnosis of supra sellar masses, cystic craniopharyngiomas typically have calcifications although better appreciated on CT and a vividly enhancing solid component. Arachnoid cysts are very thin walled cystic supra sellar lesions with no solid or enhancing component, usually extending superiorly to the third ventricle and can be causing obstructive hydrocephalus. Rathke cleft cyst remains the most challenging differential, recent efforts were made to help make the correct diagnosis [2]. In that matter the classic appearance of a midline sellar and supra sellar lesion with fluid-fluid level, haemorrhagic changes and a T2 hypointense rim (Figure 1E) clinches the diagnosis of a haemorrhagic pituitary macroadenoma.