Diffuse-type tenosynovial giant cell tumor (D-TGCT) is an uncommon synovial neoplasm. Hip involvement is rare and may be difficult to recognize because symptoms are nonspecific and osseous erosion can mimic more aggressive infectious, inflammatory, or neoplastic processes. We report a case of hip D-TGCT that presented as an erosive acetabular lesion and required histopathologic and immunohistochemical confirmation.

A 56-year-old man presented with acute right hip pain and restricted motion after a recent febrile illness that had partially improved following empirical intravenous cefuroxime therapy. Magnetic resonance imaging (MRI) demonstrated diffuse intra-articular synovial proliferation with heterogeneous low-to-intermediate signal intensity on T1-weighted images, heterogeneous signal intensity on T2-weighted images, and heterogeneous enhancement after contrast administration. Computed tomography (CT) showed joint effusion and thinning and erosion of the anterior and inferomedial acetabular wall, whereas plain radiographs were unremarkable. Because the imaging and laboratory findings were inconclusive, the patient underwent surgical excision and synovectomy, curettage of the eroded acetabular wall, alcohol ablation, and autologous iliac bone grafting. Histopathologic examination demonstrated mononuclear cells, osteoclast-like multinucleated giant cells, foamy histiocytes, chronic inflammatory cells, and abundant hemosiderin deposition. Integration of the characteristic morphology, diffuse intra-articular growth pattern, imaging findings, and supportive immunohistochemistry established the diagnosis of D-TGCT. Microbiologic cultures were negative. No postoperative radiotherapy was administered. At the 6-month follow-up, the patient reported sustained pain relief and improved hip motion, although mild restriction of motion persisted.

Hip D-TGCT should be considered when an intra-articular hip lesion shows synovial proliferation with acetabular erosion, even when inflammatory findings raise concern for alternative diagnoses. Magnetic resonance imaging and computed tomography are complementary for defining soft-tissue extent and osseous involvement, but definitive diagnosis depends on clinicopathologic correlation. This case highlights the diagnostic value of histopathology and immunohistochemistry in destructive-appearing hip lesions.

Mucosal melanoma is a rare and aggressive malignancy arising from anatomically distinct mucosal sites that share a common melanocytic origin but differ in their clinical presentation, biology, and management. Accumulating evidence indicates that the anatomic site of origin fundamentally shapes clinical presentation, immune and microbial microenvironments, molecular drivers, and therapeutic vulnerabilities. In this review, we integrate epidemiologic, clinical, genomic, immunologic, microbiome, and translational data to systematically compare mucosal melanomas arising from the sinonasal tract, oral cavity, anorectal region, and vulvovaginal tract. We highlight striking site-specific differences in patterns of presentation and metastasis, immune and microbiome composition, enrichment of actionable molecular alterations, and responses to therapies. We further discuss how current preclinical models often fail to account for this biologic diversity, limiting translational progress. Collectively, these data support viewing mucosal melanoma as a unified disease entity with clinically meaningful heterogeneity shaped by anatomic site of origin, with important implications for classification, clinical management, and trial design.

This study investigated how inflammatory cell death-associated regulators influence the prognosis of lung adenocarcinoma (LUAD) and elucidated their underlying mechanisms.

LUAD RNA-seq data from UCSC-Xena (training) and GSE72094 (validation) were analyzed. Inflammatory cell death regulators were identified, and LUAD subtypes were classified based on their expression. Subtypes were compared with respect to prognosis, clinical features, immune microenvironment, HLA genes, and immune checkpoints. Prognosis-related regulators and independent factors were identified, and a RiskScore model was built. Genomic alterations, drug sensitivity, immunotherapy response, and metabolic differences were analyzed across risk-stratified cohorts. Knockdown of TFDP1 in A549 cells was performed in vitro, and its effects on cell function were evaluated via RT-qPCR, Western blot, CCK-8, Transwell, and flow cytometry.

The research revealed 15 upregulated and 9 downregulated genes associated with inflammatory cell death, which were employed to stratify LUAD cases into two subtypes (Cluster 2 exhibited longer overall survival and higher immune/stromal scores). The seven-gene prognostic model (comprising BAK1, BMF, CYCS, FADD, IL1A, TFDP1, and YWHAG) demonstrated robust predictive power for LUAD patient survival risk. Notably, the high-risk cohort exhibited higher TIDE scores and lower IPS scores than the low-risk group. IL1A was positively correlated with 11 immune cell types and negatively correlated with 4. Drugs such as docetaxel and parthenolide may target this model. The study identified significant differences in 14 metabolic pathway enrichments between risk groups, particularly in fatty acid and fructose metabolism. Experimental validation confirmed TFDP1 upregulation in LUAD, and its knockdown suppressed A549 cell proliferation, migration, and invasion while inducing apoptosis.

A seven-gene inflammatory cell death-based signature for LUAD was developed, highlighting its role in immune regulation and its potential for immunotherapy. Experimental validation identified TFDP1 as a key regulator of inflammatory cell death processes in LUAD progression.

Autoimmune encephalitis in children often presents with neuropsychiatric symptoms and seizures and may progress to secondary epilepsy with prolonged functional impairment. Immunotherapy is the principal disease-modifying treatment, whereas comprehensive nursing care supports safety, complication prevention, rehabilitation, and continuity of care.

A 13-year-old girl presented with a 2-month history of intermittent dizziness and poor appetite, followed by abnormal behavior, mood disturbance, visual hallucinations, and seizures.

Based on characteristic neuropsychiatric manifestations, positive anti-N-methyl-d-aspartate receptor antibodies in cerebrospinal fluid and serum, and abnormal electroencephalographic findings, the patient was diagnosed with anti-NMDAR autoimmune encephalitis complicated by secondary epilepsy. Infectious encephalitis was initially considered.

The patient received first-line immunotherapy including high-dose corticosteroids and intravenous immunoglobulin, followed by plasma exchange and second-line rituximab therapy. Antiepileptic drugs and anti-infective treatments were administered as indicated. Whole-process nursing care was implemented across acute, intensive care, rehabilitation, and post-discharge phases.

After multidisciplinary treatment and nursing support, the patient regained clear consciousness with improved cognition and communication. Lower-limb muscle strength improved to grade 4/5, seizure frequency markedly decreased, and independent ambulation was achieved. At 3-month follow-up, no relapse was reported and the patient had returned to school.

This case highlights the importance of structured seizure safety management, strict infection prevention during immunotherapy, individualized rehabilitation guidance, and family-centered continuing care in pediatric anti-NMDAR autoimmune encephalitis complicated by secondary epilepsy.

Previous epidemiological evidence has suggested associations between psychiatric disorders and gynecologic tumors, but the causal relationships have not been fully characterized. This study aims to investigate the potential causal relationships using genetic instrumental variables. A 2-sample Mendelian randomization (MR) analysis was conducted utilizing 3 large-scale genome-wide association study databases: FinnGen, UK Biobank, and the Integrative Epidemiology Unit. The exposures included anxiety disorder, obsessive-compulsive disorder, schizophrenia, major depressive disorder, and bipolar disorder. The outcomes comprised cervical cancer (CC), ovarian cancer (OC), endometrial cancer, and uterine fibroids. Causal estimates were primarily derived using inverse variance weighting, with robustness assessed via MR-Egger regression, weighted median, and pleiotropy-robust methods. Heterogeneity and horizontal pleiotropy were evaluated using Cochran's Q statistic, MR-Egger intercept test, and sensitivity analyses. False discovery rate (FDR) correction was applied for multiple testing across 20 exposure-outcome pairs. The data included CC (909 cases and 2,38,249 controls), OC (2188 cases and 2,37,839 controls), endometrial cancer (1218 cases and 1,98,523 controls), and uterine fibroids (21,024 cases and 2,37,694 controls). No data loss occurred. Among 20 exposure-outcome pairs, only schizophrenia showed a statistically significant and robust association with OC after FDR correction (OR = 1.0464, 95% CI: 1.0136-1.0801, P = .0052; FDR-adjusted P = .0258). Sensitivity analyses confirmed no significant heterogeneity (inverse variance weighting Q P = .068) or horizontal pleiotropy (MR-Egger intercept P = .116). Mendelian Randomization-Pleiotropy RESidual Sum and Outlier (MR-PRESSO) was performed with 5000 permutations; the global test revealed no evidence of horizontal pleiotropy (RSSobs = 328.65, P = .058) and no outlier Single nucleotide polymorphisms were detected. Although major depressive disorder was nominally associated with CC (P = .0056, FDR = 0.0258), leave-one-out sensitivity analysis revealed this association was highly unstable and not robust. No other causal associations were observed. The suggestive genetic association between schizophrenia and OC merits attention in future etiological research. The null findings for anxiety disorder, bipolar disorder, and obsessive-compulsive disorder with gynecologic tumors may help alleviate unnecessary clinical concerns.

Nuclear protein in testis (NUT) carcinoma, formerly referred to as NUT midline carcinoma, is an exceptionally rare and aggressive malignancy. Evidence guiding radiotherapy-based management is limited, especially for nasal primary tumors with neuroaxis and systemic dissemination.

A 40-year-old woman was referred after resection of a nasal cavity malignancy. During the subsequent course, she experienced orbital pain, headache, visual impairment, severe lumbar and radicular pain, bilateral lower-limb paralysis, urinary retention, malignant pleural effusion, and widespread metastatic disease.

Pathologic consultation supported nasal NUT carcinoma, with positive NUT immunostaining and a Ki-67 index of approximately 70%. External molecular testing was reported to confirm a NUTM1 rearrangement, although the original report could not be obtained for review, and the assay platform and fusion partner could not be independently verified.

After surgery, the patient received postoperative VMAT/IMRT to 70 Gy in 35 fractions with concurrent cisplatin. Following leptomeningeal, cauda equina, and extensive osseous dissemination, she received palliative helical IMRT/Tomotherapy craniospinal irradiation to 15 Gy in 10 fractions. A later VMAT plan delivered 30 Gy in 10 fractions to one lumbar and 2 hepatic targets. Pembrolizumab, bevacizumab, temozolomide, pleural drainage, and intrapleural therapy overlapped with different treatment phases.

During the first course, headache severity decreased from 8/10 to 2.5/10 on a visual analog scale, and clinically recorded Snellen visual acuity improved from 20/200 to 20/50. Pain relief was documented after craniospinal irradiation and after the third treatment course. Serial imaging was contemporaneously interpreted as indicating interval reduction in selected lesions after radiation-containing multimodal treatment phases, although uniform retrospective remeasurement was not feasible. According to telephone follow-up with the patient's family, the patient died approximately 12 months after surgery.

Repeated clinical and imaging responses were observed following multiple phases of multimodal treatment incorporating radiotherapy. Because systemic therapies were administered during overlapping periods, the independent contribution of radiotherapy could not be isolated. Radiotherapy may provide clinically meaningful local or palliative benefit as part of individualized multimodal treatment in selected patients.

Coinfection with Pneumocystis jirovecii and Aspergillus fumigatus in immunocompromised patients carries high mortality. More importantly, paradoxical clinical and radiological responses during treatment remain poorly understood.

A 66-year-old male with mantle cell lymphoma who had received prolonged corticosteroid therapy after suspected rituximab-associated lung injury presented with progressive pulmonary symptoms.

Concurrent pulmonary infection with P jirovecii and A fumigatus was confirmed by bronchoalveolar lavage combined with metagenomic next-generation sequencing.

The patient was treated with trimethoprim-sulfamethoxazole and voriconazole.

Clinical symptoms improved markedly; however, chest imaging showed paradoxical progression, possibly reflecting an immune reconstitution inflammatory syndrome-like inflammatory response.

bronchoalveolar lavage combined with metagenomic next-generation sequencing enables rapid diagnosis of concurrent opportunistic pulmonary infections. Paradoxical radiographic worsening despite clinical improvement may suggest an immune reconstitution inflammatory syndrome-like inflammatory response, although persistent or progressive infection cannot be excluded.

Primary breast diffuse large B-cell lymphoma (PB-DLBCL) is a rare extranodal manifestation of non-Hodgkin lymphoma (NHL) that can closely resemble breast carcinoma clinically and radiologically. This overlap may delay accurate diagnosis and appropriate treatment. We report a case of PB-DLBCL in a postmenopausal woman whose initial multimodal imaging findings were suspicious for breast carcinoma, but whose final diagnosis was established by core needle biopsy with immunohistochemical and molecular evaluation.

A 59-year-old postmenopausal woman presented with a painless, palpable mass in the right breast that had been present for approximately 3 weeks.

Breast ultrasonography, mammography, magnetic resonance imaging (MRI), and positron emission tomography/computed tomography (PET/CT) demonstrated a suspicious right breast mass with ipsilateral axillary lymphadenopathy, initially raising concern for breast carcinoma. Ultrasound-guided core needle biopsy showed diffuse infiltration by atypical lymphoid cells. Immunohistochemistry confirmed a B-cell phenotype, and fluorescence in situ hybridization (FISH) showed no MYC, BCL2, or BCL6 rearrangements. Bone marrow biopsy showed no evidence of marrow involvement. The final diagnosis was PB-DLBCL, non-germinal center B-cell-like (non-GCB) subtype, Ann Arbor stage IIE.

The patient received 6 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) chemoimmunotherapy. No breast-directed surgery, consolidative radiotherapy, or central nervous system prophylaxis was administered.

At 6 weeks after completion of R-CHOP therapy, PET/CT showed complete metabolic resolution of the right breast lesion, with only a residual punctate calcified focus measuring approximately 0.4 × 0.4 × 0.3 cm. The Deauville score decreased from 5 at baseline to 1 after treatment, meeting Lugano criteria for complete response. No clinically significant treatment-related adverse events were documented.

PB-DLBCL can closely mimic breast carcinoma on multimodal imaging. Suspicious breast imaging findings do not exclude lymphoma. Tissue diagnosis with adequate immunophenotypic and molecular evaluation is essential before definitive treatment planning to avoid misdiagnosis and unnecessary surgery.

Dedifferentiated endometrial carcinoma (DEC) is a rare and aggressive subtype of endometrial cancer comprising undifferentiated carcinoma and a low-grade endometrioid component. Although POLE-mutated tumors usually show favorable outcomes owing to their ultramutated and immunogenic nature, the clinical relevance of POLE mutations in DEC remains unclear. In particular, the therapeutic effects of immune checkpoint inhibitors in POLE-mutated DEC with brain metastases have not been well characterized.

Here, we report the case of a 58-year-old woman with POLE-mutated DEC who presented with headache, dizziness, and generalized weakness due to multiple brain and pulmonary metastases. The clinical course, pathological and genomic findings, multidisciplinary treatment, and treatment outcomes were evaluated.

Endometrial biopsy confirmed dedifferentiated carcinoma. Genomic profiling identified a pathogenic POLE exonuclease domain mutation (V411L) and a high tumor mutational burden (49.7 mutations/Mb).

The patient underwent urgent cerebellar resection, followed by radiotherapy, during which a new intracranial lesion developed.

Systemic therapy with carboplatin, paclitaxel, and pembrolizumab resulted in marked regression of uterine and pulmonary lesions. Her symptoms resolved completely, and the Eastern Cooperative Oncology Group performance status improved from 2 to 0. During maintenance pembrolizumab therapy, further tumor regression was observed, and durable disease control was maintained thereafter. At 14 months, the patient remained progression-free without significant adverse events.

This case demonstrated a dramatic and sustained response following multidisciplinary treatment, including surgery, radiotherapy, chemotherapy, and immune checkpoint inhibitor therapy, in POLE-mutated DEC with brain metastases. This highlights the importance of molecular profiling in identifying patients who may benefit from immunotherapy, even in aggressive and widely metastatic disease.

Laryngeal paraganglioma (LP) is a rare neuroendocrine tumor with limited evidence on its metastatic behavior. This case is unique because it describes the diagnostic process, therapeutic decisions, and clinical outcome of LP with multisystem metastases, contributing to a better understanding of its aggressive course and management challenges.

The patient presented with progressive dysphagia, which was later accompanied by hoarseness and dyspnea.

Clinical examination and imaging revealed a mass involving the larynx. Histopathological and immunohistochemical analyses confirmed LP.

The patient underwent tracheostomy after declining partial laryngectomy. Due to tumor progression 5 months post-surgery and dysphagia, partial laryngectomy with extensive tumor resection was performed.

Four months postoperatively, recovery was uneventful, with no local recurrence and successful tracheostomy tube removal. However, at 13 months after initial diagnosis (November 22, 2020), multiple systemic metastases were detected in the lungs, pancreas, and subcutaneous tissues. The patient succumbed to systemic failure on February 9, 2021.

LP diagnosis relies on combined histopathological and immunohistochemical confirmation. Complete surgical resection is critical for preventing recurrence. Once metastasis develops, the prognosis remains poor, underscoring the importance of early diagnosis and multidisciplinary treatment.