Cuproptosis, a recently identified form of cell death, is closely linked to glycolysis; however, the mechanistic interplay between these processes in clear cell renal cell carcinoma (ccRCC) remains to be fully elucidated. Utilizing data from the TCGA and CPTAC databases, we developed and validated a cuproptosis-glycolysis-related gene (CuG) scoring model to investigate its associations with clinical outcomes, tumor immune infiltration, immunotherapy response, and drug sensitivity. Our analysis established a robust 10-gene risk model with significant prognostic value that effectively stratifies ccRCC patients into distinct high- and low-risk groups exhibiting marked differences in clinical profiles and therapeutic responses. Through integrated bioinformatic analyses alongside in vitro and in vivo experimental validation, we identified AURKA as a key functional regulator within this signature. Beyond promoting tumor cell proliferation, migration, and invasion, AURKA may have a significant role in modulating antitumor immunity. Collectively, by establishing a clinically applicable prognostic scoring system and nominating AURKA as a potential therapeutic target, our study offers translational implications for treatment decision-making in ccRCC.

F-box and WD repeat domain-containing 7 (FBXW7) encodes the substrate-recognition subunit of the SCF (SKP1-CUL1-F-box) E3 ubiquitin ligase complex, where it regulates proteasome-mediated degradation of key cell cycle and developmental proteins. The aim of this review is to provide a comprehensive overview of the currently available evidence on the clinical and molecular features of FBXW7-related neurodevelopmental disorder (NDD). While somatic mutations in FBXW7 are well-established drivers of human tumors, germline variants have only recently been linked to a distinctive neurological disorder. Reported germline variants include missense, frameshift, splice-site, and larger structural variants, with the majority clustering in the WD40 domain and disrupting substrate recognition. Functional studies confirm impaired degradation of critical regulators such as cyclin E, MYC, and NOTCH1. Clinically, affected individuals present with early developmental delay, hypotonia, and impaired language acquisition, frequently accompanied by structural brain anomalies, craniofacial dysmorphisms, and variable growth abnormalities. Additional manifestations include congenital anomalies and broad gastrointestinal involvement. Wilms tumor (WT) has been reported in a few individuals carrying germline or constitutional mosaic FBXW7 variants, with evidence of a second somatic hit documented in tumor tissue, supporting a rare but biologically plausible role of this gene in determining WT predisposition.

Inflammatory indices, including neutrophil-to-lymphocyte-platelet ratio (NLPR), systemic immune-inflammation index (SII), platelet-to-lymphocyte ratio (PLR), and neutrophil-to-lymphocyte ratio (NLR) have been proposed as prognostic markers for mortality. This study explored the links between novel inflammatory markers and mortality, including all-cause death, cancer, and cardiovascular disease (CVD).

The MASHAD cohort study included adults aged 35-65 years through a stratified cluster sampling method. Demographic, health-related, and inflammatory indices data were collected at baseline. Participants were followed for 10 years. Cox regression and Kaplan-Meier survival analyses were employed to examine the associations of inflammatory markers with mortality outcomes.

In unadjusted analyses, NLPR in the highest tertile (≥ 0.035) was associated with increased risks of all-cause mortality (HR = 1.43; 95% CI: 1.10-1.88; p = 0.009) and CVD mortality (HR = 1.73; 95% CI: 1.11-2.69; p = 0.020), but these associations were attenuated after adjustment (all-cause mortality: HR = 1.11; 95% CI: 0.84-1.48; p = 0.458). PLR in the mid-tertile (93.70-123.53) had a protective effect against all-cause mortality in adjusted models (HR = 0.74; 95% CI: 0.57-0.97; p = 0.027). The Kaplan-Meier survival analysis demonstrated notable variations in survival curves for NLPR with all-cause (p = 0.030), CVD mortality (p = 0.023), and PLR with all-cause mortality (p = 0.004). Lower all-cause mortality was observed in the mid-tertile of PLR, specifically among men and those without hypertension or CVD, according to subgroup analysis. NLR and SII were not associated with mortality.

PLR and NLPR have potential as prognostic markers for all-cause mortality, with PLR demonstrating a consistent protective effect at moderate levels. Further research with extended follow-up periods is necessary to confirm these results and investigate their potential relevance to clinical practice.

Extragastrointestinal stromal tumors (EGISTs) are rare mesenchymal neoplasms that originate outside the gastrointestinal (GI) tract and share histologic and immunohistochemical features with gastrointestinal stromal tumors (GISTs). Occurrence in the vulva is exceptionally uncommon, with limited reports describing their clinical course and management. Recognition is critical due to potential for local recurrence and malignant behavior.

We present the case of a 53-year-old woman with a history of invasive ductal carcinoma of the breast who developed a recurrent vulvar mass. Clinical evaluation, imaging, surgical excision, and pathologic evaluation with immunohistochemistry were performed. Molecular testing guided clinical management.

Initial excision of a 4 cm left labial mass demonstrated a spindle cell neoplasm with strong immunoreactivity for c-KIT, DOG-1, and CD34; and negative immunostaining for other markers. Next-generation sequencing showed a KIT exon 11 mutation. Surgical margins were positive, and MRI revealed a recurrent perineal lesion without metastasis. GI workup including endoscopy and colonoscopy was negative. The patient subsequently underwent radical vulvar excision with partial anal sphincter excision, followed by sphincter repair with colorectal surgery and labial flap reconstruction with plastic surgery. Pathology confirmed vulvar EGIST with spindle cell morphology and diffuse c-KIT/DOG-1 positivity. Postoperatively, the patient recovered well and was treated with adjuvant imatinib.

This case highlights the diagnostic and therapeutic challenges of vulvar EGISTs, an exceedingly rare entity that can mimic more common vulvar lesions. Comprehensive workup, wide excision with negative margins, and targeted therapy are essential. Increased awareness and reporting are needed to guide management.

Cancer remains one of the leading threats to human health today. With the rapid advancement of nanotechnology, the integration of nanomaterials with therapeutic strategies has shown great potential in addressing the limitations of conventional cancer treatments. Covalent organic frameworks (COFs) are novel crystalline porous polymers with well-defined backbones and nanopores, mainly composed of light elements (H, B, C, N, and O) linked by dynamic covalent bonds. Owing to their tunable morphology, adjustable porosity, intelligent responsive release, and good biocompatibility, COFs have been extensively explored for applications in cancer diagnosis and treatment. This review summarizes recent progress in the synthesis of COFs, their distinctions from other traditional nanomaterials, their tumor microenvironment-responsive release capabilities, and highlights the development of multifunctional COF-based nanoplatforms for cancer imaging and treatment. Finally, the prospects and challenges of COF-based nanoplatforms in tumor therapeutics are discussed, aiming to provide new diagnostic and therapeutic strategies for subsequent tumor prevention and treatment.

Ossifying fibroma is a benign fibro-osseous neoplasm predominantly affecting young females, characterized by replacement of normal bone with fibrous tissue containing mineralized material. While smaller lesions can be managed conservatively, extensive lesions require resection to minimize recurrence. We report a 27-year-old female presenting with a large ossifying fibroma involving the right mandibular ramus, angle, and body. Clinical examination revealed facial asymmetry with firm, non-tender swelling, and buccal cortical expansion. Computed tomography demonstrated a well-defined, expansile lesion with mixed radiolucent-radiopaque internal structure. Segmental mandibulectomy with immediate free fibula flap reconstruction was performed. Microvascular anastomosis was completed under loupe magnification. Histopathology confirmed conventional ossifying fibroma. The patient was discharged on postoperative day 10 following suture removal, with excellent restoration of facial symmetry and minimal scarring. Unfortunately, the patient did not return for follow-up.

IDH (isocitrate dehydrogenase)-mutant gliomas of the brainstem are exceedingly rare. In the INDIGO trial, patients with brainstem gliomas were excluded, thus, no data exists on the use of vorasidenib in this group.

We describe the case of a 20-year-old female who developed progressive left facial myokymia and binocular horizontal diplopia on leftward gaze over two years. Brain MRI demonstrated a non-enhancing, expansile T2/FLAIR hyperintense lesion in the left greater than right brainstem extending from the dorsal pons into the cervicomedullary junction. The slowly progressive nature of her symptoms and radiologic appearance were most suggestive of a lower-grade, infiltrative neoplasm. She underwent biopsy of the left middle cerebellar peduncle, which confirmed an IDH R132C-mutant astrocytoma, WHO grade 2. With shared decision making, the patient elected to initiate therapy with vorasidenib 40 mg once daily. After six months of treatment, her diplopia and facial myokymia nearly resolved. By eleven months, her symptoms remain well controlled. Brain MRI shows significant reduction in the size of the T2/FLAIR hyperintense lesion.

This case is the first to report a favorable clinical and radiologic response to vorasidenib in a patient with an IDH-mutant brainstem astrocytoma, suggesting the potential use of IDH inhibitors in this group.

The incidence of pituitary stalk thickening (PST) has increased in recent years due to the increased utilization of diagnostic MRI of the brain. The clinical significance of PST, appropriate diagnostic workup, and clinical course for these patients is not well documented.

After Institutional Review Board approval, we reviewed the pediatric tumor board and pediatric endocrinology clinic records between 2003 and 2024 to identify patients with PST. We followed the clinical course of these patients to collect applicable data.

A total of 29 patients were identified with PST; 11 were excluded due to additional MRI findings, and out of 18 selected patients, 9 were females (50%). Initial diagnostic workup included complete blood count (CBC), basic metabolic panel, serum and cerebrospinal fluid (CSF) tumor markers (AFP, β-hCG), and skeletal survey. With the initial workup, no patient was diagnosed with neoplasm. Patients were followed with serial MRIs. Five patients (27.7%) displayed progression of PST, warranting biopsy (2 germinomas, 2 Langerhans cell histiocytosis, and 1 inconclusive). The median time to biopsy was 8 months (range 4-26 months). All the patients diagnosed with neoplasm had central diabetes insipidus at presentation, and 3 went on to develop additional endocrine abnormalities. Ten patients had stable PST over a median follow-up period of 19 months (range 0-81 months), and 3 patients had complete resolution of PST during the follow-up period.

Most isolated PST among pediatric patients remain stable over time. Serial monitoring of patients with isolated PST can be safe, and not all cases of PST warrant upfront biopsy.

Malignant proliferating trichilemmal tumor (MPTT) is a rare cutaneous neoplasm that arises from the external root sheath of the hair follicles, typically affecting sun-exposed areas such as the scalp, neck, and forehead; it is also misdiagnosed due to its resemblance to other skin neoplasms. This report highlights a rare case of a MPTT with repeated local recurrences, despite undergoing wide surgical resections and adjuvant radiotherapy in two different occasions. We present a case of a 42-year-old African - American man diagnosed with a MPTT of the scalp in 2013, which was treated with surgical excision and adjuvant radiotherapy. In the following years, the patient experienced several local recurrences with deeper involvement of the calvarial bone, requiring multiple additional procedures. In 2023, he underwent bifrontal, biparietal, and right temporal craniectomy for complete tumor excision, followed by a second course of radiotherapy and a further scalp reconstruction in early 2024. Subsequent imaging studies revealed no signs of recurrence, and biopsy results confirmed absence of residual tumor. This case exposes an unusually aggressive and treatment-refractory MPPT, which required multiple surgical procedures for wide resection, as well as two complete courses of radiotherapy, to achieve tumor control; these characteristics place this presentation among the most treatment-refractory forms of the disease reported to date. While radiotherapy has been reported as an effective alternative in cases of tumors resistant to surgery, our experience emphasizes the need for a multimodal strategy when recurrence is suspected, whether based on histopathological features or clinical presentation. This underscores the importance of early surgical intervention, multidisciplinary management, and close long-term follow-up in such rare and challenging tumors.

Osteochondromas (OCs) are the most common benign bone tumors, but rarely arise in the lumbar spine. Due to their infrequency, understanding of their clinical presentation, management, and outcomes is limited, with most available data derived from case reports and small series. This systematic review aims to synthesize the literature on nonsyndromic lumbar spine OCs and to present an illustrative institutional case. A systematic search was conducted in PubMed, Embase, Web of Science, and Scopus from database inception to April 2024, following PRISMA 2020 guidelines. Studies reporting clinical cases or series of nonsyndromic lumbar spine OCs with sufficient details on presentation, tumor characteristics, management, and outcomes were included. The risk of bias was evaluated using the Joanna Briggs Institute tools for case reports and case series. Data extraction encompassed demographics, clinical characteristics, tumor features, operative management, and postoperative outcomes. A total of 39 studies encompassing 56 patients were included. The mean age was 42 years; 59% were male. Most lesions originated from the inferior articular process (43%) and commonly affected L4 and L5. The mean lesion size was 29.7 ± 22.2 mm, with significantly smaller lesions in patients with radiculopathy than those with low back pain or palpable mass ( p  = 0.00034). Radiculopathy (50%) and low back pain (25%) were the most frequent presentations ( p  < 0.001). The majority (80%) underwent posterior surgical excision without instrumentation, with en bloc resection performed in 78.5%. Complete symptomatic improvement was observed in 94% of patients, and recurrence was rare. Lumbar spine OCs most frequently arise from the inferior articular process and often produce radiculopathy due to intracanalicular growth. Surgical excision-especially en bloc resection-yields excellent outcomes and a low recurrence rate. Conservative treatment may be considered in selected asymptomatic patients. Early recognition and individualized management are essential for optimal outcomes.