ABSTRACT
BACKGROUND: Leptomeningeal metastasis (LM) is a predominantly late stage, devastating complication of a variety of malignant solid tumors. Diagnosis relies predominantly on neurological, radiographic, and cerebrospinal fluid (CSF) assessments. Recently, liquid biopsy tests derived from CSF has shown to be a feasible, noninvasive promising approach to tumor molecular profiling for proper brain cancer diagnostic treatment, thereby providing an opportunity for CSF-based personalized medicine. However, LM is typically misleadingly assumed to originate from only one primary tumor type. CASE PRESENTATION: In this case report, we provide first evidence of the co-occurrence of LM originating from more than one primary tumor types. DISCUSSION AND CONCLUSIONS: Based on this patient case profile, the co-occurrence of LM from two or more primary tumor types should be accounted for when deriving diagnostic conclusions from liquid biopsy tests.
Subject(s)
Adenocarcinoma of Lung/secondary , Lung Neoplasms/pathology , Melanoma/secondary , Meningeal Neoplasms/secondary , Adenocarcinoma of Lung/cerebrospinal fluid , Adenocarcinoma of Lung/therapy , Aged , Fatal Outcome , Female , Humans , Liquid Biopsy , Lung Neoplasms/therapy , Melanoma/cerebrospinal fluid , Melanoma/therapy , Meningeal Neoplasms/cerebrospinal fluid , Meningeal Neoplasms/therapyABSTRACT
PURPOSE: In the last 10 years, intra-arterial chemotherapy (IAC) has been increasingly used in the clinical management of retinoblastoma. It is reported to provide tumor control even in advanced stage disease that might have previously required enucleation. In our clinical experience, there are three conditions that may impair the use of IAC: (1) significant collaterals to meningeal arteries, (2) technical failure of ophthalmic artery catheterization, or (3) retina blood supply from collaterals different to the ophthalmic artery. In the current study, we assessed the rate of IACs that could not be carried out in our institution due to these three reasons. METHODS: All patients admitted for IAC in our hospital were retrospectively assessed by chart review. Non-application rate of IAC was assessed and classified according to the three abovementioned criteria. Complication rate of both finalized and interrupted interventions was recorded. RESULTS: Ninety-eight patients (median age 21.4 months, range 5.3 months-10.5 years) were identified. IAC was performed in 69 (70.4%) patients and interrupted in 12 (12.2%) cases because of meningeal collaterals, in 8 (8.2%) because of technical failure to cannulate the ophthalmic artery, and in 9 (9.2%) because of alternative blood supply of the retina. CONCLUSION: The rather defensive approach that is pursued in our center resulted in an overall non-application rate of IAC around 30%. The relatively high probability of conditions that impair the use of IAC needs to be addressed adequately in the patient conversation prior to the procedure. Our rate of 8% of abstention from IAC due to technical limitations might be reduced by the application of more rigorous therapeutic approaches such as balloon occlusion of the distal internal carotid artery. More research is finally needed to determine if IAC can be safely performed in the presence of meningeal collaterals and via branches of the external carotid artery.
Subject(s)
Antineoplastic Agents, Alkylating/administration & dosage , Cerebral Angiography , Melphalan/administration & dosage , Retinoblastoma/drug therapy , Ultrasonography, Interventional , Child , Child, Preschool , Collateral Circulation , Contrast Media/administration & dosage , Feasibility Studies , Female , Humans , Infant , Infusions, Intra-Arterial , Male , Meningeal Arteries/diagnostic imaging , Neoplasm Staging , Ophthalmic Artery/diagnostic imaging , Retinoblastoma/pathology , Retrospective Studies , Treatment OutcomeABSTRACT
The aim of this study was to employ artificial intelligence (AI)-based magnetic resonance imaging (MRI) brain volumetry to potentially distinguish between idiopathic normal pressure hydrocephalus (iNPH), Alzheimer's disease (AD), and age- and sex-matched healthy controls (CG) by evaluating cortical, subcortical, and ventricular volumes. Additionally, correlations between the measured brain and ventricle volumes and two established semi-quantitative radiologic markers for iNPH were examined. An IRB-approved retrospective analysis was conducted on 123 age- and sex-matched subjects (41 iNPH, 41 AD, and 41 controls), with all of the iNPH patients undergoing routine clinical brain MRI prior to ventriculoperitoneal shunt implantation. Automated AI-based determination of different cortical and subcortical brain and ventricular volumes in mL, as well as calculation of population-based normalized percentiles according to an embedded database, was performed; the CE-certified software mdbrain v4.4.1 or above was used with a standardized T1-weighted 3D magnetization-prepared rapid gradient echo (MPRAGE) sequence. Measured brain volumes and percentiles were analyzed for between-group differences and correlated with semi-quantitative measurements of the Evans' index and corpus callosal angle: iNPH patients exhibited ventricular enlargement and changes in gray and white matter compared to AD patients and controls, with the most significant differences observed in total ventricular volume (+67%) and the lateral (+68%), third (+38%), and fourth (+31%) ventricles compared to controls. Global ventriculomegaly and marked white matter reduction with concomitant preservation of gray matter compared to AD and CG were characteristic of iNPH, whereas global and frontoparietally accentuated gray matter reductions were characteristic of AD. Evans' index and corpus callosal angle differed significantly between the three groups and moderately correlated with the lateral ventricular volumes in iNPH patients [Evans' index (r > 0.83, p ≤ 0.001), corpus callosal angle (r < -0.74, p ≤ 0.001)]. AI-based MRI volumetry in iNPH patients revealed global ventricular enlargement and focal brain atrophy, which, in contrast to healthy controls and AD patients, primarily involved the supratentorial white matter and was marked temporomesially and in the midbrain, while largely preserving gray matter. Integrating AI volumetry in conjunction with traditional radiologic measures could enhance iNPH identification and differentiation, potentially improving patient management and therapy response assessment.
ABSTRACT
PURPOSE: To share our first experience with the Nimbus stentretriever, a multizone device designed to assist neurointerventionalists in handling fibrin-rich clots in endovascular stroke treatment. METHODS: We retrospectively analyzed the data of patients who were treated with the Nimbus stentretriever at our high-volume stroke center between May 2021 and May 2022. We evaluated the number of passes before Nimbus was used, the number of passes with nimbus, as well as the recanalization success before and after Nimbus according to the modified treatment in cerebral ischemia (mTICI) scale. Also, patient characteristics, procedural times and clinical outcomes were documented. RESULTS: A total of 21 consecutive patients were included in the study. An mTICI 2b/3 could be achieved in 76.2% and mTICI 2c/3 could be achieved in 57.1%. The mean number of passes was 3.4 before the use of Nimbus, 2.2 with Nimbus, and 5.4 for all passes with and without Nimbus and 4 occlusions (19.0%) were successfully recanalized with direct aspiration after the use of Nimbus. We observed seven subarachnoid hemorrhages (33.3%) and two cases of vasospasm. CONCLUSION: In our series, the use of Nimbus resulted in successful recanalization in half of the patients after otherwise unsuccessful thrombectomy maneuvers; therefore, it should be considered as a rescue option if the maneuver with conventional stent retrievers was unsuccessful.
Subject(s)
Brain Ischemia , Stroke , Thrombosis , Humans , Retrospective Studies , Treatment Outcome , Stroke/etiology , Brain Ischemia/etiology , Cerebral Infarction , Thrombectomy/methods , Fibrin/therapeutic use , Stents/adverse effectsABSTRACT
Immune checkpoint inhibitors (ICIs) have considerably expanded the effective treatment options for malignant melanoma. ICIs revert tumor-associated immunosuppression and potentiate T-cell mediated tumor clearance. Immune-related neurologic adverse events (irNAEs) manifest in the central (CNS) or peripheral nervous system (PNS) and most frequently present as encephalitis or myasthenia gravis respectively. We report on a 47-year old male patient with metastatic melanoma who developed signs of cerebellar disease five weeks after the start of ICI treatment (ipilimumab and nivolumab). Magnetic resonance imaging (MRI) of the brain and spine revealed multiple new contrast enhancements suggestive of parenchymal and leptomeningeal metastasis. Cerebral spinal fluid (CSF) evaluation showed a lymphomononuclear pleocytosis in the absence of tumor cells. Subsequent stereotactic brain biopsy confirmed demyelinating disease. High-dose corticosteroid treatment resulted in immediate improvement of the clinical symptoms. MRI scans and CSF re-evaluation were conducted six weeks later and showed a near-complete remission. The strong resemblance to neoplastic CNS dissemination and irNAEs is a particularly difficult diagnostic challenge. Treating physicians should be aware of irNAEs as those can be effectively treated with high-dose steroids.
ABSTRACT
In the present study, a novel mutation in the presenilin 1 gene was discovered in an Iraq-native patient with early-onset Alzheimer's disease, who presented with speech impairment and memory decline at age 46 years. Magnetic resonance imaging showed a frontotemporal atrophy. Sanger sequencing identified a heterozygous T to A transversion at position 815 (c.815T>A) in the presenilin 1 gene (PSEN1), resulting in a novel missense mutation at codon 272 from valine to aspartate (V272D). We tested this PSEN1 mutation in vitro and found V272D resulted in an altered Aß42/40 ratio.
Subject(s)
Alzheimer Disease/genetics , Apraxias/genetics , Confusion/genetics , Mutation, Missense , Presenilin-1/genetics , Alzheimer Disease/diagnostic imaging , Amyloid beta-Peptides/metabolism , Brain/diagnostic imaging , Brain/metabolism , Brain/pathology , Cell Line , Genes, Dominant , Humans , Iraq , Magnetic Resonance Angiography , Middle Aged , Peptide Fragments/metabolismABSTRACT
OBJECTIVES: Catheter angiography (DSA) as gold standard for the evaluation of aneurysmal occlusion after coiling has now been largely replaced by MRI or CTA in long term observations. However, the first year after treatment is crucial because most recurrences occur in this time. Until now no guidelines exist concerning the imaging modality to adopt in this period. Aim of the study was to determine whether DSA could also be omitted in the first follow-up examination after coiling due to MRI results. PATIENTS AND METHODS: 489 consecutive half-year follow-up examinations consisting of DSA, CE-MRA and TOF-MRA at 1.5 or 3T were reviewed retrospectively. Visualization of residual or recurrent aneurysms in both MRA-techniques was compared to DSA by two experienced readers. RESULTS: Remnants/recurrences could be visualized in at least one of the three techniques in 190 (38.9%) aneurysms. Remnants/recurrences requiring retreatment (n=52) were detectable with at least one of the two MRI-techniques. In three cases (0.6%) remnants/recurrences were only visible on DSA but neither on CE-MRA nor on TOF-MRA. However, they were small (<2mm) and therapy concept did not change. In one case (0.2%) they were only visible on the CE-MRA and TOF-MRA but not on the DSA, in five cases (1%) visible on DSA and TOF-MRA but not on the CE-MRA and in four cases (0.8%) not visible on the TOF-MRA but on both of the other imaging modalities. CONCLUSION: The combination of CE-MRA und TOF-MRA is also an appropriate alternative to DSA concerning the evaluation of residual or recurrent aneurysms in the crucial first follow-up.