Diagnostic Follow-up Research Articles

Overview of European standard clinical practice recommendations for multidiscplinary teams involved in the treatment of central nervous system tumours in children and adolescents – SIOPE Brain Tumour Group

Tumours of the central nervous system (CNS) represent the most common group of solid tumours in children and adolescents up to the age of 18 years. They comprise several biological entities, subgroups, and subtypes. These subtypes and additional factors, including age at diagnosis, location, stage, or genetic characteristics of the tumours result in a very heterogeneous spectrum of treatment-relevant strata for risk-adapted multimodal treatment recommendations, clinical courses, and long-term outcomes. Multidisciplinary teams with highly experienced members are needed to treat these children and adolescents to achieve the best possible outcome in the short and long-term. This is particularly important for the new CNS tumour entities with no established standard of care. On behalf of the Brain Tumour Group of the European Society for Paediatric Oncology, we summarize the key statements of the involved disciplines that need to cooperate in the diagnosis and risk-adapted treatment of children with CNS tumours: neuroradiology, neurosurgery, neuropathology, radiotherapy, endocrinology, neuro-ophthalmology, and quality of survival professionals, covering what should be considered standard clinical practice for diagnostic assessments, treatment modalities, and follow-up of children with CNS-tumours.

Current Challenges in Pediatric Asthma.

Asthma is a chronic lung disease characterized by reversible bronchoconstriction and inflammation of the bronchi. Its increasing prevalence in childhood as well as different triggers make asthma a challenging disease in several ways: defining its phenotype/endotype, the diagnostic approach (especially in younger children), therapeutic options, and systematic follow-up. Considering these problems, this review approaches the current status and limitations of guidelines used for asthma management in children. It also emphasizes the key points which could lead to a better understanding and the direction to take in future studies.

A systematic review of subclinical hyperthyroidism guidelines: a remarkable range of recommendations.

Subclinical thyroid diseases are often the subject of debate concerning their clinical significance, the appropriateness of diagnostic testing, and possible treatment. This systematic review addresses the variation in international guidelines for subclinical hyperthyroidism, focusing on diagnostic workup, treatment, and follow-up recommendations. Following the PRISMA guidelines, we searched PubMed, Embase, and guideline-specific databases and included clinical practice guidelines with recommendations on subclinical hyperthyroidism. Guideline recommendations were extracted, and quality assessment was performed using selected questions of the Appraisal of Guidelines for Research & Evaluation (AGREE) II instrument. Of the 2624 records screened, 22 guidelines were included, which were published between 2007 and 2021. Guideline quality was generally intermediate to low. Diagnostic approaches differed substantially, particularly in the extent of recommended testing. Treatment initiation depended on TSH levels, age, and comorbidities, but the level of detail regarding defining precise comorbidities varied. Recommendations for monitoring intervals for follow-up ranged from 3 to 12 months. This review underscores the existing variability in (inter)national guidelines concerning subclinical hyperthyroidism. There isa need for clear recommendations in guidelines considering diagnostic workup, treatment, and follow-up of subclinical hyperthyroidism. In order to establish this, future research should focus on determining clear and evidence-based intervention thresholds.

A case report on Creutzfeldt-Jacob Disease: Early diagnosis through multidisciplinary lens

Background: Creutzfeldt Jacob disease is a rapidly progressive neurodegenerative disorder, which is invariably fatal and results in death within 1 year of onset. Patient presents with a variety of non-specific neuropsychiatric symptoms, like myoclonus, cerebellar symptoms, visual impairment, and behavioural abnormalities. The symptoms are rapidly progressive and cause early functional impairment in the patient. Case presentation: In this report, we discussed a case of 49 years old male presented with multiple neuropsychiatric symptoms. After a series of extensive diagnostic examinations and follow-up, the patient was diagnosed as probable sporadic Creutzfeldt-Jakob disease based on 2018 Centres for Disease Control and Prevention (CDC) criteria, with key findings of myoclonus, behavioural and cerebellar problems, visual abnormalities, abnormal hyperintensity signals on diffusion-weighted MRI and characteristic EEG waves. CSF 14-3-3 protein was significantly high. Conclusion: Sporadic CJD is a rare and fatal rapidly progressive neurodegenerative disorder, which claims prompt and precise diagnosis to help the clinicians in distinguishing it from potentially treatable neuropsychiatric disorders. This aspect elevates the significance of our report, as it aids not only the medical professionals but also the affected families. Early diagnosis enables family to prepare for disease course and appropriate management strategies.

Time Differences From Abnormal Cervical Cancer Screening to Colposcopy Between Insurance Statuses.

Screening and diagnostic follow-up to prevent cervical cancer are influenced by socioeconomic and systemic factors. This study sought to characterize intervals from abnormal cervical cancer screening to colposcopy between practices differing by insurance status at a large, urban academic center. This retrospective cohort study included patients aged 21-65 who presented for colposcopy between January 1, 2021, and January 1, 2022, at the resident and faculty gynecology practices of a single large urban academic medical center. Patient characteristics were compared using t tests or Wilcoxon rank sum tests for continuous measures and χ 2 or Fisher exact tests for categorical measures. Intervals from abnormal cervical cancer screening to colposcopy were compared using the Wilcoxon rank sum test and linear regression analysis with multivariable models adjusted for age, cervical cytology result, human papillomavirus result, and HIV status. Resident practice patients were publicly insured and more likely to be Black or Hispanic ( p < .0001); rates of high-risk human papillomavirus and smoking were similar. Resident practice patients had longer intervals from abnormal cervical cancer screening to colposcopy compared with faculty practice patients (median 79.5 vs 34 d, p < .0001). On adjusted analysis, resident practice patients faced a 95% longer interval ( p < .0001). Publicly insured patients of a resident-based practice faced significantly longer intervals from abnormal cervical cancer screening to colposcopy than faculty practice patients at a single urban academic center. Effort to address these differences may be an area of focus in improving health disparities.

Significance of Suspicious Urine Cytology (Class III) in Diagnostic Cystoscopy Follow-up of Bladder Cancer

Significance of Suspicious Urine Cytology (Class III) in Diagnostic Cystoscopy Follow-up of Bladder Cancer

The Public's Intended Uptake of Hypothetical Esophageal Adenocarcinoma Screening Scenarios: A Nationwide Survey.

Screening for early esophageal adenocarcinoma (EAC) may potentially reduce EAC-related mortality and morbidity. This study aimed to examine the Dutch population's intended uptake of 3 hypothetical EAC screening test scenarios and preferences for potential future organization. A total of 8,350 Dutch individuals aged 45-75 years were invited, of whom 2,258 completed a web-based survey. Participants were randomly assigned to 1 of 3 hypothetical screening test scenarios (i.e., transnasal endoscopy, ingestible cell collection device, or breath analysis). The primary outcome was intended uptake. Secondary outcomes included acceptance of screening eligibility criteria and preferences regarding invitation, counseling, and diagnostic follow-up. We performed exploratory univariable and multivariable regression analyses to assess which determinants were associated with EAC screening intent. Intended uptake of screening was highest in the breath analysis scenario (95%), followed by conventional upper endoscopy (78%), an ingestible cell collection device (75%), and transnasal endoscopy (68%) ( P < 0.001). Anticipating discomfort was most strongly associated with decreased intention to undergo transnasal endoscopy (odds ratio 0.18, 95% confidence interval 0.11-0.29) or swallow a cell collection device (odds ratio 0.20, 95% confidence interval 0.13-0.32). Cancer worry and high acceptance of test sensitivity/specificity were consistently associated with a positive intention to participate in screening. Inviting persons for screening based on gastroesophageal reflux disease symptoms, age, or the output of a risk prediction model was acceptable to 74%, 69%, and 66%, respectively. Inviting only men was acceptable for only 41% of women. The majority (58%) preferred to be invited by a public health organization, and 32% of the participants preferred to discuss their decision to participate with a healthcare professional. Participants in this study self-selected through a web-based survey, potentially introducing selection bias. Participants generally intended to participate in EAC screening, although the level of intent depended on the discomfort and performance associated with the offered screening test. Determining eligibility based on gastroesophageal reflux disease symptoms, age, or a risk calculator, but not sex, would be acceptable to most individuals.

Cancer screening with multicancer detection tests: A translational science review.

Multicancer detection (MCD) tests use a single, easily obtainable biospecimen, such as blood, to screen for more than one cancer concurrently. MCD tests can potentially be used to improve early cancer detection, including cancers that currently lack effective screening methods. However, these tests have unknown and unquantified benefits and harms. MCD tests differ from conventional cancer screening tests in that the organ responsible for a positive test is unknown, and a broad diagnostic workup may be necessary to confirm the location and type of underlying cancer. Among two prospective studies involving greater than 16,000 individuals, MCD tests identified those who had some cancers without currently recommended screening tests, including pancreas, ovary, liver, uterus, small intestine, oropharyngeal, bone, thyroid, and hematologic malignancies, at early stages. Reported MCD test sensitivities range from 27% to 95% but differ by organ and are lower for early stage cancers, for which treatment toxicity would be lowest and the potential for cure might be highest. False reassurance from a negative MCD result may reduce screening adherence, risking a loss in proven public health benefits from standard-of-care screening. Prospective clinical trials are needed to address uncertainties about MCD accuracy to detect different cancers in asymptomatic individuals, whether these tests can detect cancer sufficiently early for effective treatment and mortality reduction, the degree to which these tests may contribute to cancer overdiagnosis and overtreatment, whether MCD tests work equally well across all populations, and the appropriate diagnostic evaluation and follow-up for patients with a positive test.

Association between time to colonoscopy after positive fecal testing and colorectal cancer outcomes in Alberta, Canada.

To quantify the associations between time to colonoscopy after a positive fecal immunochemical test (FIT+) and colorectal cancer (CRC)-related outcomes in the context of a provincial, population-based CRC screening program. Population-based, retrospective cohort study in Alberta, Canada, including Albertans aged 50-74 with at least one FIT+ in 2014-2017. Study outcomes were CRC diagnosis after a FIT+ and a diagnostic follow-up colonoscopy in 2014-2019 and CRC stage at diagnosis. Multivariable logistic regression models were used to evaluate the relative risk of any CRC or advanced-stage CRC. Results were presented as crude odds ratio (OR) and adjusted OR (aOR) with 95% confidence intervals (CIs). Of the 787,967 participants who had a FIT, 63,232 (8%) had a FIT+ and met the study's eligibility criteria. The risk of any CRC or advanced-stage CRC stayed high and was relatively consistent for follow-up colonoscopies performed within 1-12 months of the FIT+. After 12 months, the risk of CRC was considerably higher, particularly for advanced-stage CRC. The OR and aOR for any CRC were 1.40 (95% CI: 1.13-1.73; p < 0.05) and 1.20 (95% CI: 0.96-1.49), respectively, and the OR and aOR for advanced-stage CRC were 1.42 (95% CI: 0.98-2.08) and 0.88 (95% CI: 0.59-1.32), respectively, for colonoscopy follow-up within 12-18 months versus 1-2 months. For Albertans who used FIT for CRC screening, a longer time interval between a FIT+ and follow-up colonoscopy, particularly over 12 months, increases the risk of having CRC and decreases the effectiveness of CRC screening programs.

Upper Tract Urothelial Cancer: Guideline of Guidelines.

Upper tract urothelial carcinoma (UTUC) is a rare disease with a potentially dismal prognosis. We systematically compared international guidelines on UTUC to analyze similitudes and differences among them. We conducted a search on MEDLINE/PubMed for guidelines related to UTUC from 2010 to the present. In addition, we manually explored the websites of urological and oncological societies and journals to identify pertinent guidelines. We also assessed recommendations from the International Bladder Cancer Network, the Canadian Urological Association, the European Society for Medical Oncology, and the International Consultation on Bladder Cancer, considering their expertise and experience in the field. Among all the sources, only the American Urologist Association (AUA), European Association of Urology (EAU), and the National Comprehensive Cancer Network (NCCN) guidelines specifically report data on diagnosis, treatment, and follow-up of UTUC. Current analysis reveals several differences between all three sources on diagnostic work-up, patient management, and follow-up. Among all, AUA and EAU guidelines show more detailed indications. Despite the growing incidence of UTUC, only AUA, EAU, and NCCN guidelines deal with this cancer. Our research depicted high variability in reporting recommendations and opinions. In this regard, we encourage further higher-quality research to gain evidence creating higher grade consensus between guidelines.

Pattern of body fat distribution in patients of PCOS using DEXA-based indices

BackgroundConsidering the close link between polycystic ovary syndrome (PCOS) and metabolic syndrome considerable research has been devoted to studying the pattern of fat distribution in PCOS.ObjectivesThe study aims to assess the usefulness of dual-energy X-ray absorptiometry (DEXA) based regional fat distribution indices as a predictor of the development of PCOS.MethodsThis case–control study recruited diagnosed cases of PCOS using Rotterdam Criteria (cases n = 86) and healthy age-matched controls (n = 90). DEXA was performed in both groups for assessment of total and regional body fat distribution after undergoing ultrasonography (USG) and baseline/biochemical evaluation.ResultsThe study revealed a significant difference between cases and controls in trunk fat percentage (40.2% ± 9.1% vs 26.5% ± 9.1%; p < 0.001), android fat percentage (42.4% ± 41%vs 27.8% ± 1.51%; p < 0.001), total fat percentage (43.8% ± 8% vs28.5% ± 1.6%; p < 0.001), fat mass/ht2 (fat mass index) (8.82 ± 3% vs 4.8 ± 1.7%; p < 0.001), android/gynoid ratio (1.05 ± 0.1 vs 0.7 ± 0.2; p < 0.001), and trunk/limb fat mass ratio (1.06 ± 0.3 vs 0.69 ± 0.3; p 0.001). Multivariate analysis revealed a significant relation of trunk fat mass with android % fat, gynoid fat mass, and android-gynoid ratio.ConclusionsThe study demonstrates that there is a central pattern of fat distribution in patients with PCOS while the overall fat might not be increased which is well analyzed by DEXA. Hence, we suggest its use in the initial diagnostic workup and follow-up of PCOS patients for their body fat distribution and content.

ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy

BackgroundPhospholamban (PLN) p.(Arg14del) variant carriers are at risk for development of malignant ventricular arrhythmia (MVA). Accurate risk stratification allows timely implantation of intracardiac defibrillators and is currently performed with a multimodality prediction model. ObjectiveThis study aimed to investigate whether an explainable deep learning–based approach allows risk prediction with only electrocardiogram (ECG) data. MethodsA total of 679 PLN p.(Arg14del) carriers without MVA at baseline were identified. A deep learning–based variational auto-encoder, trained on 1.1 million ECGs, was used to convert the 12-lead baseline ECG into its FactorECG, a compressed version of the ECG that summarizes it into 32 explainable factors. Prediction models were developed by Cox regression. ResultsThe deep learning–based ECG-only approach was able to predict MVA with a C statistic of 0.79 (95% CI, 0.76–0.83), comparable to the current prediction model (C statistic, 0.83 [95% CI, 0.79–0.88]; P = .054) and outperforming a model based on conventional ECG parameters (low-voltage ECG and negative T waves; C statistic, 0.65 [95% CI, 0.58–0.73]; P < .001). Clinical simulations showed that a 2-step approach, with ECG-only screening followed by a full workup, resulted in 60% less additional diagnostics while outperforming the multimodal prediction model in all patients. A visualization tool was created to provide interactive visualizations (https://pln.ecgx.ai). ConclusionOur deep learning–based algorithm based on ECG data only accurately predicts the occurrence of MVA in PLN p.(Arg14del) carriers, enabling more efficient stratification of patients who need additional diagnostic testing and follow-up.

Management of well-appearing febrile young infants aged ≤90 days

Abstract The evaluation and management of young infants presenting with fever remains an area of significant practice variation. While most well-appearing febrile young infants have a viral illness, identifying those at risk for invasive bacterial infections, specifically bacteremia and bacterial meningitis, is critical. This statement considers infants aged ≤90 days who present with a rectal temperature ≥38.0°C but appear well otherwise. Applying recent risk-stratification criteria to guide management and incorporating diagnostic testing with procalcitonin are advised. Management decisions for infants meeting low-risk criteria should reflect the probability of disease, consider the balance of risks and potential harm, and include parents/caregivers in shared decision-making when options exist. Optimal management may also be influenced by pragmatic considerations, such as access to diagnostic investigations, observation units, tertiary care, and follow-up. Special considerations such as temperature measurement, risk for invasive herpes simplex infection, and post-immunization fever are also discussed.

Clinical-imaging-pathological correlation in pulmonary hypertension associated with left heart disease.

Pulmonary hypertension (PH) is highly prevalent in patients with left heart disease (LHD) and negatively impacts prognosis. The most common causes of PH associated with LHD (PH-LHD) are left heart failure and valvular heart disease. In LHD, passive backward transmission of increased left-sided filling pressures leads to isolated post-capillary PH. Additional pulmonary vasoconstriction and remodelling lead to a higher vascular load and combined pre- and post-capillary PH. The increased afterload leads to right ventricular dysfunction and failure. Multimodality imaging of the heart plays a central role in the diagnostic work-up and follow-up of patients with PH-LHD. Echocardiography provides information about the estimated pulmonary artery pressure, morphology and function of the left and right side of the heart, and valvular abnormalities. Cardiac magnetic resonance imaging is the gold standard for volumetric measurements and provides myocardial tissue characterisation. Computed tomography of the thorax may show general features of PH and/or LHD and is helpful in excluding other PH causes. Histopathology reveals a spectrum of pre- and post-capillary vasculopathy, including intimal fibrosis, media smooth muscle cell hyperplasia, adventitial fibrosis and capillary congestion. In this paper, we provide an overview of clinical, imaging and histopathological findings in PH-LHD based on three clinical cases.

Enhancing Diagnostic Follow-up and Care Coordination for Children with Autism in a Busy Resident Continuity Clinic: Leveraging the Electronic Health Record.

A high-quality primary care clinic should provide clear action points and important care coordination for a child receiving a new diagnosis of autism spectrum disorder (ASD). Unfortunately, a substantial proportion of caregivers report little-to-no post-diagnosis support from their home clinics and primary care providers often report lack of training and resources in providing these supports. We implemented an intervention package to investigate the impact on the frequency and quality of follow-up care for children with ASD in a busy, high-volume resident continuity clinic. The package consisted of a care coordination scheduling pathway and a standardized clinical template-embedded in the electronic health record (EHR)-that guided providers through best-practice recommendations and patient resources. As a result of these interventions, 74% of patients had ASD-specific follow-up, a more than threefold increase from baseline with a majority of providers using the EHR-embedded template to guide their visit. Providers also indicated a high degree of usability for the system and that it aided them in following best-practice guidelines for ASD care. Through explicit scheduling pathways and a novel EHR template, we saw a significant increase in ASD-specific follow-up visits and implementation of best practices for ASD care, demonstrating a new process for training and engaging primary care providers in clear action steps for post-diagnostic care without having to rely on tertiary referrals.

Comparisons of assessment pathways after abnormal mammography screening in Denmark, Norway, and Spain

PurposeTo ensure high-quality screening programmes and effective utilization of resources, it is important to monitor how cancer detection is affected by different strategies performed at recall assessment. This study aimed to describe procedures performed at recall assessment and compare and evaluate the performance of the assessment in Denmark, Norway, and Spain in terms of screen-detected cancer (SDC) and interval cancer (IC) rates.MethodsWe included women aged 50–69 years from Denmark, Norway, and Spain, who were recalled for assessment after screening mammography, and recorded all procedures performed during six months after diagnosis, and the timing of the procedures. Women were followed for two years and screen-detected and interval cancer, and sensitivity of recall was calculated and compared.ResultsIn total, data from 24,645 Danish, 30,050 Norwegian, and 41,809 Spanish women were included in the study. Most of the women had some assessment within 2 months in all three countries. SDC rates were higher in Denmark (0.57) and Norway (0.60) compared to Spain (0.38), as were the IC rates, i.e. 0.25 and 0.18 vs. 0.12, respectively. The sensitivity of the diagnostic follow-up was somewhat higher in Denmark (98.3%) and Norway (98.2%), compared to Spain (95.4%), but when excluding non-invasive assessment pathways, the sensitivities were comparable.ConclusionThis comparison study showed variation in the assessment procedures used in the three countries as well as the SDC and IC rates and the sensitivity of recall.

Management of Traumatic Cerebral Venous Sinus Thrombosis: A United Kingdom and Ireland Survey on Practice Variation.

Traumatic cerebral venous sinus thrombosis (tCVST) is an increasingly recognized sequela of traumatic brain injury (TBI), with skull fractures and extradural hematomas overlying venous sinuses recognized as risk factors. Although it may be treated with anticoagulation, the decision to treat tCVST is nuanced by the risk of new or worsening hemorrhage. Presently, there are no guidelines on the investigation and management of tCVST. Therefore, we conducted a UK- and Ireland-wide practice variation survey. A 17-question survey was sent via Google Forms to neurosurgeons and intensive care doctors of at least ST3 (registrar) level and above in the UK and Ireland and distributed by the Society of British Neurological Surgeons and investigators of the Sugar or Salt trial between May 9, 2023, and September 15, 2023. Data were extracted from the survey for both qualitative and quantitative analyses. There were 41 respondents to the survey, 18 (43.9%) of whom were consultant neurosurgeons. Fifty-four percent of the respondents performed a computed tomography intracranial venogram to investigate for tCVST where there was a skull fracture overlying or adjacent to a venous sinus, whereas 43.9% performed these at the time of TBI diagnosis. Around three-fourth of the respondents anticoagulate for tCVST, largely within 3 days post-TBI. A range of hemorrhagic and thrombotic complications have been observed following decisions to treat and withhold treatment of tCVST, respectively. Around two-third of the respondents conducted follow-up imaging in confirmed tCVST. None of the respondents had an established departmental protocol for the management of tCVST. This UK- and Ireland-wide survey on the management of tCVST revealed a variation in its diagnosis, treatment, and follow-up with no departmental protocol established. The optimal diagnostic pathway, management protocol, and follow-up of patients with tCVST remain unknown and should be the subject of future studies.

Evaluation of calcitonin measurement in fine needle aspirates in the diagnosis of primary and metastatic medullary thyroid carcinoma

Serum CT represents the tumoral marker of medullary thyroid carcinoma (MTC), and is a main diagnostic tool and follow-up after treatment. Nevertheless, calcitonin levels can be elevated in a number of other situations and does not always distinguish MTC from other clinical circumstances, particularly when elevation remains moderate. Fine needle aspiration biopsy is a widely used examination for the investigation of thyroid nodules and lymph nodes, but its sensitivity for the diagnosis of MTC remains low ranging from 45% to 63%. Calcitonin measurement in fine needle aspiration wash out fluid has been reported as reliable, and is recommended by the experts of American Thyroid Association (ATA) in their 2015 consensus for the management of MTC even if its diagnostic is not standardized yet. Material and methods: Twenty patients with 45 lesions (thyroid nodule and lymph node) were included in this study; calcitonin was performed in each of them, the puncture needles were washed with 1ml of saline solution to obtain to measure Calcitonin in fine needle aspiration washout fluid. Results: After surgery 32 MTC were diagnosed on histology. Receiver operating curve (ROC curve) indicated CT in fine needle aspiration &gt;22.99pg/ml as more accurate cut off value with a sensitivity and specificity of 96.87% and 100%. Calcitonin ratio was evaluated too, the cut off value being&gt;0.64 with a sensitivity of 62.5% and specificity of 100%. Conclusion: Calcitonin in fine needle aspiration wash out fluid constitutes an excellent diagnostic tool of MTC with the use of 22.99pg/ml threshold.

A case report on Creutzfeldt-Jacob disease: early diagnosis through multidisciplinary lens

Background: Creutzfeldt Jacob disease is a rapidly progressive neurodegenerative disorder, which is invariably fatal and results in death within 1 year of onset. The patient presents with a variety of non-specific neuropsychiatric symptoms, such as myoclonus, cerebellar symptoms, visual impairment, and behavioral abnormalities. The symptoms are rapidly progressive and cause early functional impairment in the patient. Case Presentation: In this report, we discussed a case of 49-year-old male presented with multiple neuropsychiatric symptoms. After a series of extensive diagnostic examinations and follow-up, the patient was diagnosed as having probable sporadic Creutzfeldt-Jakob disease based on 2018 Centres for Disease Control and Prevention criteria, with key findings of myoclonus, behavioral and cerebellar problems, visual abnormalities, abnormal hyperintensity signals on diffusion-weighted magnetic resonance imaging and characteristic electroencephalogram waves. CSF 14-3-3 protein was significantly high. Conclusion: Sporadic CJD is a rare and fatal rapidly progressive neurodegenerative disorder, that claims prompt and precise diagnosis to help clinicians distinguish it from potentially treatable neuropsychiatric disorders. This aspect elevates the significance of our report, as it aids not only the medical professionals but also the affected families. Early diagnosis enables the family to prepare for the disease course and appropriate management strategies.

Neurooncology: 2024 update.

As in previous years, including 2023, a major focus in the neurooncological area of neuropathology was put on more precise and constantly faster diagnostic procedures, even reaching the level of ultra-fast intraoperative diagnostics based on methylation profiling. Neuropathological diagnostic precision and clinical follow-up treatment has been further increased by combining DNA methylation profiling with targeted panel sequencing. A few new, molecularly defined tumor subtypes have been proposed, among others, a glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (in its abbreviated form named GTAKA) and the de novo replication repair deficient glioblastoma, IDH-wildtype both having either distinct prognostic or therapeutic implications. Regarding the understanding of brain tumor development and progression, several novel mechanisms have been presented which might also be considered as treatment targets in the future, such as a) autonomous rhythmical Ca2+ oscillations in interconnected glioma cell networks driving tumor growth; b) transfer of mitochondria from normal astrocytes to glioma cells enhancing proliferation and self-renewal; c) brain endothelial cell remodeling upon matrix-metalloprotease 9 secretion by tumor cells metastasizing into the CNS and d) anti-tumor activity of microglia in CNS metastasis of breast cancer. Finally, in contrast to previous years, several very promising neurooncological treatment studies have been conducted, focusing on specific targets such as H3K27M or IDH1/2 mutations for which a proper neuropathological assessment is key. The continuous translation of potential new treatment targets using faster and precise diagnostic procedures will further pave the way for better individualized clinical care of neurooncological patients.