Search Results (3,519)

Objectives: Pediatric nasopharyngeal carcinoma (NPC) is rare and often presents at an advanced stage. Although multimodal treatment can achieve favorable survival, long-term survivors may experience substantial treatment-related morbidity. We aimed to evaluate survival outcomes according to stage and metastatic status and to characterize late toxicity in a 20-year single-center pediatric NPC series. Methods. We retrospectively reviewed 24 pediatric patients diagnosed with NPC between 2003 and 2023. Histology was classified according to WHO criteria, and tumors were staged using the AJCC TNM system. Overall survival (OS) and event-free survival (EFS) were estimated using the Kaplan–Meier method. Survival distributions were compared using the log-rank test. Late treatment-related toxicities documented during follow-up were recorded descriptively. Results: Twenty-four patients with WHO type III NPC were included. Fourteen patients had stage III disease and 10 had stage IV disease; three had distant metastasis at diagnosis. The median follow-up duration was 50.5 months. At last follow-up, 19 patients were alive and five had died. The estimated 5- and 10-year OS rates were both 72.7%, and the corresponding EFS rates were both 63.7%. Stage IV disease and metastatic presentation were associated with inferior OS. Dysphagia, malnutrition, xerostomia, fibrosis, hypothyroidism, and deafness were the most frequently recorded adverse health effects. Conclusions: This 20-year single-center experience shows that AJCC stage and metastatic status remain key determinants of survival in pediatric NPC. The high burden of late treatment-related complications highlights the importance of integrating long-term multidisciplinary survivorship surveillance into the care of pediatric NPC survivors. Full article

Background: Spinal epidural abscesses (SEA) are rare, occurring 2.5–3 times per 10,000 hospital admissions. While streptococcus species comprise 7% of reported SEAs, Group A Streptococcus (GAS) has been described only once in the medical literature to our knowledge. Case presentation: We present a case of GAS pharyngitis with subsequent paraplegia from a GAS SEA. A 33-year-old female presented to the emergency department (ED) and was initially diagnosed with GAS pharyngitis and a suspected strained lower back. Following treatment with amoxicillin, she returned with worsened back pain, radiculopathy, and leukocytosis, for which she was treated with cyclobenzaprine. On her third presentation, she had new bilateral lower extremity weakness with decreased sensation, bilateral ankle clonus, and hyperreflexia. MRI of the thoracic and lumbar spine revealed a multiloculated SEA at T5-T10 requiring laminectomy and abscess evacuation. Intraoperative cultures grew Streptococcus pyogenes. Despite surgery, medical management, and physical therapy, she remained paraplegic. Conclusions: To our knowledge, this is the first report of SEA preceded by GAS pharyngitis. This case exposes the critical association between a recent infection, progression of back pain, eventual neurologic symptoms, and inflammatory markers that should trigger concern for SEA and early evaluation with MRI. Full article

Background and Clinical Significance: Odontogenic myxoma (OM) is a rare benign neoplasm of the jawbones characterized by spindle-shaped cells embedded in a myxoid stroma. Despite its benign histological nature, it demonstrates locally aggressive behavior, significant invasiveness, and a high risk of recurrence. OM ranks as the third most common odontogenic tumor after odontoma and ameloblastoma. It affects both sexes and occurs more frequently in the mandible than in the maxilla, typically during the second to fourth decades of life. Macroscopically, OM is non-encapsulated, whitish-gray, and gelatinous. Radiographically, it usually presents as a radiolucent lesion with fine bony trabeculae, producing a characteristic “tennis racket” appearance. Case Presentation: We report a case of a 27-year-old male diagnosed with maxillary odontogenic myxoma measuring 2.3 × 1.7 cm. Clinical, radiographic, and histopathological findings were evaluated, and the lesion was treated conservatively by surgical enucleation and curettage. Results: The surgical procedure was completed without complications. Histopathological analysis confirmed the diagnosis of odontogenic myxoma. The patient showed satisfactory postoperative healing, and no evidence of recurrence was observed during a 10-month follow-up period. Conclusions: Although odontogenic myxoma is benign, its locally aggressive nature and recurrence potential require accurate diagnosis and appropriate management. Conservative treatment by enucleation and curettage may be effective for small, well-defined lesions, provided that careful long-term follow-up is maintained to monitor for recurrence. Full article

Systemic chronic active Epstein–Barr virus disease (sCAEBV) is a rare and potentially fatal disorder characterized by inflammatory manifestations and organ infiltration by EBV-infected T- or NK-cells. Although [¹⁸F]FDG PET/CT has limited utility for assessing the disease activity of sCAEBV, [¹¹C]acetate PET/CT has not previously been evaluated in this setting. We therefore conducted this exploratory retrospective study to assess the utility of sequentially performed [¹¹C]acetate and [¹⁸F]FDG PET/CT in sCAEBV. Five patients diagnosed with sCAEBV according to the criteria of the Research Group on Measures against Intractable Diseases, Ministry of Health, Labour and Welfare of Japan (consistent with the 2017 WHO classification) and assessed between July 2017 and December 2018 were included; patients younger than 20 years were excluded. Each patient underwent both [¹¹C]acetate and 2-deoxy-2-[¹⁸F]fluoro-D-glucose ([¹⁸F]FDG) positron emission tomography/computed tomography (PET/CT) on the same day. The maximum and mean standardized uptake values (SUVmax and SUVmean) of the liver and spleen and the liver-to-spleen ratio (LSR) were correlated with laboratory parameters, including alanine aminotransferase (ALT) and lactate dehydrogenase (LDH), using Spearman’s rank correlation coefficient. The LSR was compared between active and inactive cases using the Mann–Whitney U test. Twenty-one lymph node regions were assessed in each patient, and the SUVmax of detected lesions was measured. The detection rate of lymph node lesions between the two tracers was compared using McNemar’s test, and the SUVmax of lymph node lesions was compared between the two tracers and between active and inactive cases using the Mann–Whitney U test. All statistical analyses were performed using R version 4.5.3 (R Foundation for Statistical Computing, Vienna, Austria), and a p-value < 0.05 was considered statistically significant. Five patients (three men and two women; mean age 31.8 years, range 21–39 years) were included. [¹¹C]acetate PET/CT showed significant negative correlations between spleen SUV and liver enzymes (AST, ALT, and LDH), and significant positive correlations between the LSR and all five liver enzymes tested (AST, ALT, LDH, γGTP, and ALP) (Spearman’s rank correlation coefficient; p < 0.05 for all). No significant correlations were observed with [¹⁸F]FDG PET/CT. The LSR on [¹¹C]acetate PET/CT was numerically higher in active cases than in inactive cases, though this difference was not statistically significant (0.88 ± 0.02 vs. 0.61 ± 0.02; p = 0.20, Mann–Whitney U test). Lymph node lesion detectability did not differ significantly between the two tracers (16 vs. 12 regions; p = 0.13, McNemar’s test). In this pilot study, [¹¹C]acetate PET/CT spleen SUV showed significant negative correlations with liver enzymes (AST, ALT, and LDH), and the LSR showed significant positive correlations with all measured liver enzymes, suggesting that [¹¹C]acetate PET/CT reflects both hepatic and splenic involvement in sCAEBV. [¹¹C]acetate PET/CT may therefore serve as a novel imaging biomarker for assessing disease activity in sCAEBV, warranting further investigation in larger cohorts. Full article

Biliary tract cancers (BTCs) comprise a heterogeneous group of malignancies arising from the biliary tree, including cholangiocarcinomas and gallbladder carcinomas. Although their incidence is rising globally in Western countries, these cancers are rare and most often diagnosed at advanced stages. Their molecular heterogeneity and frequent resistance to therapy further contribute to their dismal prognosis. In recent years, molecular profiling studies have led to a better understanding of BTC biology and have opened new therapeutic opportunities, particularly for patients with advanced or metastatic disease. Alterations in DNA damage repair (DDR) genes have been identified in a substantial proportion of BTC cases, with some cohorts observing frequencies approaching ~70%. These genetic alterations play a critical role in tumorigenesis and disease progression and may contribute to treatment resistance. In this article, we discuss the current knowledge on: (1) the main DDR signaling pathways; (2) the prevalence of DDR gene alterations across BTC subtypes; (3) the potential of DDR gene alterations as prognostic and/or predictive biomarkers of treatment response; and (4) the latest advances in DDR-based targeted therapies and ongoing clinical trials in BTC. Full article

Background/Objectives: Facial discoid dermatosis is a rare inflammatory dermatosis presenting with round, superficial erythematous lesions located on the face. Diagnosis may be challenging and often requires careful clinicopathological correlation due to overlapping clinical and histopathological features. Skin lesions are typically resistant to a wide range of topical and systemic treatments. From the perspective of personalized medicine, improved phenotyping of rare inflammatory dermatoses may support more precise diagnosis, individualized therapeutic decisions, and non-invasive disease monitoring. This study aimed to characterize facial discoid dermatosis using line-field confocal optical coherence tomography and reflectance confocal microscopy and to discuss its differential diagnosis and therapeutic implications. Methods: We report a case of facial discoid dermatosis in a 35-year-old patient examined with line-field confocal optical coherence tomography and reflectance confocal microscopy. The imaging findings were interpreted in correlation with clinical and histopathological features. A literature review was performed to summarize differential diagnoses, therapeutic perspectives, and the proposed relationship between facial discoid dermatosis and pityriasis rubra pilaris. Results: Non-invasive imaging revealed morphological features consistent with a psoriasiform inflammatory dermatosis and provided additional in vivo information supporting the diagnosis. The literature review showed limited evidence for a direct association between facial discoid dermatosis and pityriasis rubra pilaris, with only isolated reports suggesting possible overlap or progression. Conclusions: Facial discoid dermatosis appears to represent a distinct psoriasiform dermatosis. Line-field confocal optical coherence tomography and reflectance confocal microscopy may contribute to a personalized diagnostic approach by supporting differential diagnosis and potentially guiding individualized monitoring in rare inflammatory facial dermatoses. Full article

Background: Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disorder that remains underdiagnosed in low- and middle-income countries, largely due to limited access to specialized diagnostic tests. Genetic analysis has become an essential component of PCD diagnosis, particularly where functional and ultrastructural evaluations are unavailable. Methods: We conducted an investigational study including children and adolescents with clinical suspicion of PCD followed at a Brazilian tertiary center. Clinical characterization included detailed phenotyping and calculation of the PICADAR score. Molecular investigation was performed using exome sequencing as a frontline diagnostic approach. Results: Among 27 individuals evaluated, 10 (37%) received a confirmed molecular diagnosis of PCD. An additional 6 (22%) individuals had inconclusive molecular findings, mainly due to variants of uncertain significance (VUS), and were classified as likely PCD based on combined clinical and molecular evidence. Higher PICADAR scores were more frequently observed among individuals with confirmed or likely molecular diagnosis, with 9 of 10 confirmed cases presenting a score above 5. Beyond PCD-associated findings, exome sequencing also enabled the identification of clinically relevant additional diagnoses, including cystic fibrosis, FGFR3-related hypochondroplasia, and ACMG-reportable secondary finding involving BRCA2. Some unresolved cases may also reflect inherent technical limitations of exome sequencing, including restricted sensitivity for copy-number variants, suboptimal coverage of highly homologous or GC-rich regions, and limited detection of deep intronic and other variants. Additional factors include challenges in variant interpretation and incomplete knowledge of disease-associated genes. Conclusions: Frontline exome sequencing is a valuable diagnostic tool for PCD, particularly when integrated with robust clinical phenotyping. Clinical scoring systems such as PICADAR may help prioritize individuals for genetic testing and optimize diagnostic yield in resource-limited settings. Full article

Background: Peripheral nerve sheath tumors of the oral cavity are rare and encompass both benign and malignant entities. Differentiating between these lesions remains challenging due to overlapping clinical and histopathological characteristics. Case presentation: We present two cases illustrating the biological spectrum of peripheral nerve sheath tumors in the oral cavity. The first case involves a 76-year-old male with a recurrent lower lip lesion initially diagnosed as benign, which progressed to a high-grade malignant peripheral nerve sheath tumor (MPNST). The second case describes a 20-year-old male presenting with a nodular lesion of the tongue, initially suspected to be reactive following trauma, but histologically confirmed as a benign schwannoma. Both patients underwent surgical treatment with favorable immediate postoperative outcomes. Conclusions: These cases highlight the diagnostic complexity and heterogeneous behavior of peripheral nerve sheath tumors. Histopathological and immunohistochemical evaluations are essential for definitive diagnosis. Clinicians should maintain a high index of suspicion and consider possible association with NF1 or schwannomatosis, particularly in recurrent or atypical lesions. Full article

Acromegaly is a rare chronic endocrine disorder characterized by delayed diagnosis, multisystem comorbidity, and heterogeneous therapeutic response. We aimed to describe the clinical characteristics, tumor profile, treatment patterns, biochemical control, pituitary insufficiencies, and comorbidity burden in an endocrinology tertiary center in northeastern Romania. This observational retrospective study included 87 adult patients admitted for general inpatient evaluation between December 2023 and November 2024, with retrospective data collected from diagnosis and follow-up assessed through the last available hospital visit at St. Spiridon Clinical Emergency Hospital. Clinical, hormonal, imaging, and therapeutic data were analyzed using descriptive statistics and inferential statistical tests. Most patients were diagnosed in middle adulthood, with a female predominance. Macroadenomas and extrasellar extension were common, consistent with advanced tumor stage at presentation. Treatment was predominantly multimodal, with surgery as the main therapeutic intervention and somatostatin receptor ligands as the main medical treatment backbone. Biochemical improvement was observed over time, although complete remission was achieved only in a subset of patients. These findings describe the clinical and therapeutic complexity of acromegaly in a single tertiary-center inpatient cohort and support the need for individualized long-term monitoring. Full article

Background: Renal cell carcinoma accounts for nearly 15,000 deaths annually in the US, and approximately 30–40% of patients present with metastatic disease (mRCC). The advent of immune checkpoint inhibitors (IO) and tyrosine kinase inhibitors (TKI) has revolutionized the treatment paradigm of patients with mRCC. However, the role of cytoreductive nephrectomy (CN) in the IO-TKI era, particularly for rare and understudied histologies such as non-clear-cell RCC, remains poorly understood. Methods: We conducted a retrospective cohort study of patients with metastatic non-clear-cell RCC. Patients were stratified by receipt of CN. Baseline demographic, clinical, histologic, and metastatic site variables were collected. Overall survival was analyzed using Kaplan–Meier methods and compared with the log-rank test. Cox proportional hazards regression was performed to identify independent predictors of survival, including CN, systemic therapy, year of diagnosis, histology, and metastatic sites. Results: Among 2753 patients with metastatic nccRCC, 1654 (60.1%) underwent CN and 1099 (39.9%) did not undergo CN. The 2-year and 5-year OS rates were 35.52% and 19.22% in the CN group versus 18.53% and 7.47% in the non-CN group (p < 0.001). In the doubly robust IPTW-weighted multivariable Cox regression analysis, CN was associated with improved overall survival, corresponding to a 40% lower risk of death compared with no CN (HR 0.60, 95% CI 0.54–0.66; p < 0.001). Additionally, more recent treatment eras were associated with progressively improved overall survival, with patients diagnosed between 2015 and 2017 and 2018 onward demonstrating significantly improved OS compared with those diagnosed between 2004 and 2014. Conclusions: Our study demonstrates that CN was associated with improved OS in patients with non-clear-cell mRCC by reducing the risk of death by 40% after adjusting for baseline characteristics. These findings emphasize the role of CN even in the IO-TKI era for the management of patients with non-clear-cell mRCC. However, these findings should be interpreted in the context of the retrospective study design, potential selection bias, and lack of granular systemic therapy data within the NCDB. Full article

A 54-year-old female patient presented with a gradually enlarging mass on the ulnar side of the left wrist. Magnetic resonance imaging demonstrated a fat-containing lesion deep within the flexor carpi ulnaris that showed heterogeneous signal intensity, as well as weak internal and peripheral enhancement, which are not typical for atypical spindle cell/pleomorphic lipomatous tumors (ASPLTs). The imaging appearance overlapped with spindle cell lipoma (SCL), atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL), and hibernoma, which made preoperative diagnosis challenging. The mass was excised en bloc. Histologically, the tumor consisted of mature adipocytes with substantial size variation, mild atypical spindle cells within a myxoid stroma, and scattered lipoblasts. Immunohistochemistry showed CD34 positivity and loss of RB1, while MDM2 amplification was absent on fluorescence in situ hybridization analysis, supporting a diagnosis of ASPLT. ASPLT is known for its broad range of morphological and radiological presentations, and this case further highlights the difficulty inherent in distinguishing it from SCL and ALT/WDL based on imaging alone. Recognition of its diverse features and the use of molecular testing are essential for accurately diagnosing ASPLT. Surgical excision remains the standard treatment. Although recurrence has been reported, metastasis of ASPLT is exceedingly rare. Full article

Background: Head and neck neuroendocrine carcinoma (HN-NEC) is exceedingly rare. Standardized treatment strategies for this malignancy remain unestablished. This study aimed to explore promising treatment modalities, and to identify prognostic factors in HN-NEC. Materials and Methods: Thirty-nine patients diagnosed with HN-NEC at West China Hospital of Sichuan University between 2006 and 2025 were enrolled. The 5-year survival rates were estimated by Kaplan–Meier analysis. The log-rank test and Firth’s penalized Cox multivariable analysis regression model were used to identify prognostic factors. Results: The 5-year locoregional recurrence-free survival (LRRFS), distant metastasis-free survival (DMFS), and overall survival (OS) rates for patients who did and did not receive radiotherapy were 63.2% vs. 29.6% (p = 0.031), 75.5% vs. 48.0% (p = 0.065), and 81.4% vs. 46.9% (p = 0.039), respectively. Laryngeal NEC was associated with poorer 5-year DMFS (41.2% vs. 87.5%, p = 0.023) and 5-year OS (38.1% vs. 92.9%, p = 0.027) compared with non-laryngeal HN-NEC. Radiotherapy (HR = 0.152, 95% CI: 0.025–0.757, p = 0.022) was a potentially protective factor influencing LRRFS. Conclusions: Radiotherapy may be associated with improved LRRFS in patients with HN-NEC. HN-NEC originating in the larynx appeared to be associated with a poorer prognosis compared with other primary sites of the head and neck. Full article

Background and Clinical Significance: Metallic stents represent a breakthrough in the treatment of ureteric obstruction, improving patient quality of life. Despite their advantages, management of encrustation remains a difficult complication to address. This case series highlights the rare occurrence of permanent ureteral Wallstents remaining indwelling for over 20 years. It emphasizes that the function of these older devices can be successfully preserved using minimally invasive techniques. Case Presentation: This case series details three patients, two males, aged 75 and 69 years, diagnosed with colon cancer, and one female, aged 67 years, with cervical cancer, who presented with obstructive uropathy due to extrinsic malignant compression. As a therapeutic strategy, permanent ureteral Wallstents were placed in all three patients. Over time, the stents developed significant encrustation, leading to secondary obstruction. Clinical manifestations of this complication varied, ranging from asymptomatic hydronephrosis to acute symptomatic uropathy characterized by fever and localized pain. All cases were treated endoscopically with Ho:YAG laser lithotripsy, and urine flow was successfully restored. During the follow-up period, one patient experienced two recurrences that were managed with the same technique, another remained completely symptom-free, and the third was lost to long-term follow-up. Remarkably, the stents have remained functional for over 20 years post-implantation. Conclusions: This is a rare report documenting permanent ureteral Wallstents with such prolonged indwelling time. Furthermore, our findings suggest that through minimally invasive techniques, the function of these devices can be successfully preserved. Full article

Background: Invasive lobular carcinoma (ILC) of the breast has a unique metastatic pattern due to E-cadherin deficiency, with a predilection for peritoneal, gastrointestinal, and pelvic organ involvement. Ovarian metastasis from ILC is rare but can mimic primary ovarian cancer clinically and radiologically, leading to misdiagnosis and unnecessary radical surgery. This study aimed to summarize the imaging features of ovarian metastasis from ILC and analyze the causes of misdiagnosis, while highlighting the value of preoperative biopsy. Methods: Clinical and imaging data of six patients with pathologically confirmed ovarian metastasis from ILC were retrospectively analyzed. All six patients were female (age range 33–65 years), had a history of breast cancer (ILC subtype), and were found to have ovarian masses either during follow-up or at initial diagnosis. Imaging findings of the ovaries, peritoneum, and ascites were analyzed and compared with initial clinical diagnoses and pathological results. Results: Among the six patients, five were initially clinically misdiagnosed as having primary ovarian cancer and underwent unnecessary total hysterectomy with bilateral salpingo-oophorectomy. One patient (case 6) was correctly diagnosed via percutaneous biopsy of the omentum and skin nodules, which confirmed metastatic ILC, thereby avoiding unnecessary gynecological surgery. Imaging findings: All six patients had bilateral ovarian masses, appearing as solid or cystic-solid lesions. Peritoneal changes were observed in four cases. Ascites was present in five cases. Laboratory findings showed marked variability in CA125 levels (normal in three cases, elevated in three cases). Immunohistochemistry confirmed breast origin in all cases (GATA3+, PAX8−, E-cadherin−). In case 6, after four cycles of chemotherapy (albumin-bound paclitaxel + carboplatin + bevacizumab), follow-up CT demonstrated significant reduction in ovarian masses and regression of peritoneal and omental lesions. Conclusions: Ovarian metastasis from ILC is easily misdiagnosed as primary ovarian cancer without histologic confirmation, leading to unnecessary radical surgery. However, as demonstrated in case 6, percutaneous biopsy of accessible metastatic sites (omentum, peritoneum, or skin nodules) can establish the correct diagnosis and guide systemic therapy, thereby avoiding unnecessary surgery. In case 6, the ILC ovarian metastasis showed a favorable response to chemotherapy, but this single-case finding requires cautious interpretation as ILC is generally considered less chemosensitive than invasive ductal carcinoma. In patients with a history of breast cancer or with suspected metastatic disease, ILC metastasis should be included in the differential diagnosis of ovarian masses. Full article

Azathioprine-associated hypersensitivity syndrome is a rare, idiosyncratic, dose-independent reaction that typically develops within the first four weeks of therapy. The clinical presentation includes a broad spectrum of symptoms such as fever, gastrointestinal manifestations including abdominal pain, nausea, and vomiting, cutaneous involvement, arthralgias, myalgias, and organ dysfunction, particularly affecting the liver and kidneys. Laboratory findings typically include leukocytosis, neutrophilia, and elevated C-reactive protein (CRP), whereas eosinophilia is usually absent. To date, lymphadenopathy has not been described as a manifestation of this syndrome. In this report, we describe the case of a 75-year-old female patient who developed a probable azathioprine-associated hypersensitivity syndrome three weeks after treatment initiation and who, in addition to systemic manifestations of the syndrome, presented with bihilar and mediastinal lymphadenopathy, which may represent a previously unreported feature of this condition, and we discuss potential differential diagnoses. Full article