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### Emerging Technologies: From Deep Phenotyping to Real‐Time Monitoring |
#### Radiomics, Radiogenomics, and Artificial Intelligence |
Quantitative MRI feature extraction coupled with machine learning enables noninvasive prediction of IDH status, 1p/19q codeletion, and WHO grade [193, 194, 195]. Multiple 2024 meta‐analyses report pooled sensitivities of 79%–88% and specificities of 80%–89% for radiomics‐based IDH prediction, with AUC values commonly 0... |
Looking ahead, radiogenomic mapping may link imaging signatures to spatial transcriptomic programs and therapy‐resistant niches, enabling earlier detection of subclinical progression and more precise trial stratification [200]. As these models mature and achieve clinical‐grade reproducibility, they promise to complemen... |
#### Liquid Biopsy and Metabolic Monitoring |
Tumor‐derived cell‐free DNA in cerebrospinal fluid can track clonal evolution, emerging resistance, and minimal residual disease more sensitively than conventional imaging, and generally outperforms plasma for detecting glioma‐defining mutations due to blood–brain barrier constraints [201, 202, 203]. A 2024 droplet dig... |
In parallel, D‐2‐hydroxyglutarate assessment by MR spectroscopy or biofluids provides a pharmacodynamic readout of IDH inhibition to guide dosing and treatment adaptation [188, 206]. As assays mature, integrated surveillance combining CSF cfDNA and metabolic imaging may become increasingly practical for patients manage... |
#### Single‐Cell and Spatial Multi‐Omics |
Single‐cell and spatial profiling reveal IDH‐mutant gliomas as interacting ecosystems of malignant cell states and microenvironmental niches, including programs linked to treatment resistance and immunosuppression. Together with patient‐derived organoids and xenografts, these platforms enable functional modeling of co‐... |
### Toward Personalized, Trajectory‐Based Care |
IDH‐mutant astrocytomas are well suited to precision neuro‐oncology because prognosis and treatment response reflect tractable tumor factors—IDH mutation, 1p/19q status, CDKN2A/B, MGMT methylation, imaging features, extent of resection—layered onto patient age, comorbidities, and life goals [93]. |
#### Integrated Decision Tools |
Multivariable models combining molecular markers, radiomics signatures, residual tumor volume, and clinical variables will increasingly guide treatment timing, intensity, and sequencing—including when to initiate RT/chemotherapy versus prioritize IDH inhibition. These tools aim to move beyond categorical “low‐grade ver... |
#### Neurocognitive‐Sparing Strategies |
For long‐surviving patients, minimizing neurotoxicity is paramount. Approaches include tighter conformal radiotherapy planning, proton or hippocampal‐sparing RT when appropriate, dose and field de‐escalation in favorable‐risk disease, optimized seizure control, and early cognitive rehabilitation—ideally embedded as pre... |
#### Life‐Course and Survivorship Planning |
Personalized care will increasingly incorporate fertility preservation counseling, vocational support, driving and employment considerations, and digital monitoring through apps or wearables to track functional and cognitive trajectories in real‐world settings. Recognition of IDH‐mutant astrocytomas as chronic conditio... |
Overall, the field is shifting from “Which regimen is best for this WHO grade?” toward trajectory‐based care—integrating targeted agents, deep phenotyping, and survivorship‐focused endpoints to balance durable control with preservation of function and quality of life over potentially decades of living with IDH‐mutant a... |
### Clinical Milestones and Emerging Targeted Frontiers |
The therapeutic landscape of IDH‐mutant astrocytomas is undergoing a paradigm shift, transitioning from nonspecific cytotoxic approaches to biologically driven targeted interventions. To consolidate the pivotal breakthroughs—most notably the integration of brain‐penetrant IDH inhibitors—and to highlight the trajectory ... |
[table] TABLE 1Recent therapeutic milestones and clinical frontiers of vorasidenib and targeted strategies in IDH‐mutant gliomas.Clinical domainKey evidence and major findingsReferencesPFS and disease controlThe Phase 3 INDIGO trial demonstrated that vorasidenib significantly improved progression‐free survival (PFS) in... |
### Emerging Diagnostic Frontiers: AI‐Driven Radiomics and Liquid Biopsy |
Parallel to therapeutic innovations, the diagnostic paradigm is transitioning toward non‐invasive, high‐precision modalities. As summarized in Table 2, the integration of AI‐driven radiomics and multi‐source liquid biopsy is enabling real‐time monitoring of tumor evolution and therapeutic response. |
[table] TABLE 2Advanced diagnostic technologies for molecular monitoring and risk stratification.Diagnostic modalityTechnological breakthrough and clinical utilityReferencesDeep learning & radiomicsAdvanced AI algorithms and radiomic signatures now enable highly accurate, noninvasive prediction of IDH mutation, 1p/19q ... |
## Conclusion |
Isocitrate dehydrogenase (IDH)–mutant astrocytomas exemplify how integrated molecular classification has transformed both prognostication and treatment in diffuse gliomas, defining a distinct entity spanning CNS WHO Grades 2–4 rather than variants within a simple “low‐ versus high‐grade” framework [2]. Although outcome... |
Among molecular markers, homozygous CDKN2A/B deletion has emerged as the dominant adverse factor, strong enough to assign CNS WHO Grade 4 to IDH‐mutant astrocytomas irrespective of microscopic appearance [4]. Global methylation patterns, including LINE‐1 hypomethylation and G‐CIMP‐low signatures, further refine risk an... |
Maximal safe resection remains the cornerstone of management across the IDH‐mutant astrocytoma spectrum, improving seizure control, delaying malignant transformation, and prolonging survival, particularly when gross‐total or near‐total resection is achievable in non‐eloquent regions [88]. Contemporary series favor earl... |
For IDH‐mutant Grades 3 and 4 astrocytomas, immediate postoperative radiotherapy plus chemotherapy remains standard of care, supported by randomized data and guideline consensus, although the optimal regimen and duration continue to be refined in molecularly annotated cohorts [109]. In contrast, management of Grade 2 d... |
Beyond IDH inhibition, multiple emerging strategies target the metabolic, epigenetic, and microenvironmental hallmarks of IDH‐mutant astrocytomas. Aberrant 2‐hydroxyglutarate–driven methylation and NAD+ redox imbalance provide a rationale for DNA‐methyltransferase and histone‐modifying agents, as well as inhibitors of ... |
At the same time, advances in radiomics, radiogenomics, liquid biopsy, and single‐cell and spatial multi‐omics are enabling “deep phenotyping” that captures tumor biology far beyond conventional histopathology, with the promise of non‐invasive monitoring of molecular status, minimal residual disease, and emergent resis... |
## Author Contributions |
All authors contributed to the conception and design of the review, literature retrieval, critical synthesis and interpretation of the evidence, and drafting and revision of the manuscript. All authors read and approved the final manuscript and agree to be accountable for all aspects of the work. |
## Funding |
This work was supported by departmental research funding from the Department of Neurosurgery, Yangpu District Shidong Hospital, Shanghai, China (Grant No. 12‐002‐2025). |
## Ethics Statement |
The authors have nothing to report. |
## Conflicts of Interest |
The authors declare no conflicts of interest. |
a2019f5db02c4583dd757a2297a2054dba014dfac7f72b197dd7bd4142c4bae3 pmc13042621.txt |
PMCID: PMC13056813 |
TITLE: Case Report: Sellar hemangioblastoma mimicking a pituitary macroadenoma: a diagnostic and surgical pitfall |
LICENSE: https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the or... |
ABSTRACT: BackgroundSellar hemangioblastoma (HBL), an exceedingly rare and hypervascular tumor, represents a critical diagnostic pitfall as it frequently mimics the radiological features of a common pituitary adenoma. This misidentification poses a substantial risk of unexpected and severe intraoperative hemorrhage, co... |
## Introduction |
Hemangioblastomas (HBLs) are benign, slow-growing vascular tumors of the central nervous system (CNS), classified as World Health Organization (WHO) Grade I. They account for only 1% to 2.5% of all intracranial tumors, but this incidence rises to 7% to 12% of primary tumors in the posterior fossa (1, 2). The most commo... |
The sellar region possesses a complex anatomy, where pituitary adenomas are the most prevalent space-occupying lesions (6). Consequently, a mass in this location is often presumptively diagnosed as a pituitary adenoma. This assumption, however, carries substantial risk. HBLs are characteristically hypervascular tumors ... |
Herein, we report the case of a 64-year-old female with a sellar HBL that was preoperatively misdiagnosed as a pituitary macroadenoma. We aim to describe its clinical, radiological, and pathological features in detail. Furthermore, through a review of the literature, we will focus on its imaging characteristics and key... |
## Case presentation |
A 64-year-old female presented to our institution with a chief complaint of intermittent dizziness persisting for over one year. The patient described the sensation as non-rotatory lightheadedness, which occurred without obvious triggers and was not exacerbated by postural changes. She denied experiencing true vertigo ... |
Upon admission to our institution, a pituitary magnetic resonance imaging (MRI) was performed. It revealed a well-demarcated sellar and suprasellar mass, measuring approximately 2.6 × 3.3 × 2.6 cm. The lesion appeared as a mixed iso- and hypointense signal on T1-weighted imaging (Figure 1A) and heterogeneous high signa... |
Based on the mass effect observed on imaging, a detailed physical examination, including neuro-ophthalmological evaluation, was conducted, which revealed no visual acuity deficits or visual field defects. Furthermore, a comprehensive endocrine evaluation of the pituitary-target gland axes was performed. Plasma levels o... |
The patient subsequently underwent a neuro-navigation-assisted endoscopic endonasal approach with the planned intent of gross total resection. Given the high preoperative confidence in the diagnosis of a pituitary macroadenoma, routine intraoperative frozen section was not initially performed. However, the procedure wa... |
The resected specimen was sent for histopathological examination. Microscopy revealed sheets of short spindle-shaped tumor cells with lipid-rich cytoplasm, embedded within a dense capillary network and abundant stromal reticulin fibers (Figure 1F). Immunohistochemical staining demonstrated diffuse CD56 positivity, CD34... |
The postoperative course was uneventful. A baseline postoperative MRI on day 6 confirmed a curvilinear residual tumor with avid enhancement in the surgical bed (Figure 2A). Given the strong association with Von Hippel-Lindau (VHL) disease, genetic and systemic screening was recommended; however, the patient declined th... |
The patient was followed up at 5 months and subsequently at one year postoperatively. Clinically, she remained in good condition, with complete resolution of her presenting dizziness. Serial neuro-ophthalmological evaluations showed stable visual acuity and full visual fields bilaterally throughout the follow-up period... |
## Discussion |
This case highlights a critical diagnostic pitfall: the misidentification of a rare sellar HBL as a common pituitary macroadenoma. Although flow voids and avid early enhancement are well-established radiographic hallmarks of HBLs (8, 9), their diagnostic significance in the sellar region is often underestimated due to ... |
This bias is exacerbated by striking imaging similarities. Indeed, HBLs can manifest in six characteristic imaging patterns: large cyst with a small solid nodule (the most common and classic type), large cyst with a large solid component, microcystic with a large solid component, microcystic with a small solid nodule, ... |
To fully leverage the value of these imaging features for preoperative risk assessment, a careful differential diagnosis with other major sellar lesions is imperative. First, as the most common lesion in this region, pituitary macroadenomas have a fundamentally different enhancement pattern from HBLs. Although the degr... |
Beyond these common entities, the differential diagnosis must extend to rarer lesions, especially those that can mimic the hypervascular nature of HBL. Foremost among these are Solitary Fibrous Tumors (SFT), which, according to the 2021 WHO classification, encompass a spectrum from grade 1 to grades 2 and 3—the latter ... |
Accurate differentiation is critical because the management of HBL differs fundamentally from that of other sellar lesions. The clinical course of this case highlights the risks of misdiagnosis. The principle of treatment for sellar HBL is complete surgical resection (15). Due to the tumor’s extreme vascularity, many a... |
Furthermore, the strong association between sellar HBLs and VHL disease—60-84% compared to 20-40% in other locations (5, 20, 32) —has critical implications for preoperative strategy. |
When imaging features such as flow voids and early enhancement raise suspicion of a hemangioblastoma, validating a VHL diagnosis is paramount as it opens the door to non-surgical management. Recently, belzutifan, a specific HIF-2α inhibitor, has been approved for VHL-associated CNS hemangioblastomas (33). By targeting ... |
In our case, a higher preoperative index of suspicion could have prompted genetic testing. If a VHL mutation had been identified, the treatment plan might have been fundamentally altered: instead of an endoscopic resection complicated by massive hemorrhage, the patient could have been considered for upfront belzutifan ... |
This study has several limitations. First, as a single case report, the generalizability of its findings is limited. Second, because the patient refused systematic screening for VHL disease, we could not definitively classify this case as sporadic or assess for other potential VHL-related lesions, rendering the case in... |
## Conclusion |
Sellar HBL is a rare diagnostic pitfall, as its imaging findings often mimic those of a pituitary adenoma, leading to a risk of unexpected intraoperative hemorrhage. This case underscores that despite the rarity of HBL, clinicians should maintain a high index of suspicion when a sellar mass demonstrates prominent vascu... |
bfdeb8578636a147784ac9a7041e0cf755c28ad4b591f01675e120b4a127d702 pmc13056813.txt |
PMCID: PMC13116887 |
TITLE: Non-Small-Cell Lung Cancer: From Histopathological Classification to Precision Oncology—A Narrative Review |
LICENSE: Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license. |
ABSTRACT: AbstractNon-Small-Cell Lung Cancer (NSCLC) represents the most prevalent form of lung cancer and remains one of the leading causes of cancer-related morbidity and mortality worldwide. This disease has evolved far beyond traditional histopathological classification. While histology remains foundational, it is ... |
## 1. Introduction |
NSCLC represents the most common form of lung cancer and exhibits significant histological, molecular, and clinical heterogeneity. Historically, NSCLC classification relied primarily on morphological assessment of tumor tissue, distinguishing major subtypes such as adenocarcinoma, squamous cell carcinoma, and large cel... |
## 2. Epidemiology |
### 2.1. General Data |
NSCLC is the most common subtype of lung cancer globally and remains a major contributor to cancer deaths. Despite advances in screening and prevention programs, its incidence continues to be elevated in both high- and low-income regions. In countries that have implemented strong smoking control strategies, a slow but ... |
### 2.2. Risk Factors |
Smoking continues to be the dominant risk factor for NSCLC, with most cases caused by active smoking, as well as prolonged exposure to tobacco smoke—passive smoking [7]. Several environmental and occupational factors also significantly increase the likelihood of developing NSCLC. Prolonged exposure to radon, asbestos f... |
### 2.3. Sex and Age Distribution |
Epidemiological data show a steady increase in the number of cases among women, although NSCLC is still more common in men. This trend is associated both with the increase in the incidence of smoking among women in recent decades and with specific biological characteristics that influence individual susceptibility to t... |
## 3. Pathogenesis |
The development of NSCLC is driven by a complex interplay between genetic predisposition, epigenetic modifications, and environmental exposures. All these factors lead to the gradual transformation of healthy respiratory epithelial cells into malignant tissue [16]. The process unfolds over time as key molecular abnorma... |
### 3.1. General Mechanisms |
NSCLC develops through the gradual transformation of normal respiratory epithelial cells into malignant tissue, driven by the interplay of genetic predisposition, epigenetic changes, and environmental exposures. Key molecular abnormalities disrupt cell cycle regulation, apoptosis, and immune surveillance, enabling sust... |
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