Differential Diagnosis Research Articles

A case of diabetic mastopathy: An unusual breast lesion mimicking cancer in type 1 diabetes mellitus

Diabetic mastopathy is a rare fibroinflammatory disorder seen among middle aged and premenopausal age group. It is also called lymphocytic mastopathy or sclerosing lymphocytic mastitis. This is seen associated with type 1 diabetes mellitus and other autoimmune disorders specially related to endocrine disorders like thyroid. The definite diagnosis of diabetic mastopathy is truly based on biopsy and histopathological examination.A 33 year old female came to hospital with complaints of swelling in right breast since one month and pain since one week. She was a known case of type 1 diabetes mellitus since 10 years and on regular medications. Radiological Impression was possibilities of mastitis with abscess formation more likely to be considered. But infiltrating malignant neoplasm with areas of necrosis is also a differential diagnosis. Our histopathology laboratory, we received incision biopsy from right breast and microscopic examination from multiple tissue sections showed breast parenchyma with extensive fibrosis and periductal inflammatory infiltrate predominantly lymphocytes, plasma cells and a few neutrophils. Some of the ducts show epithelial proliferation forming bridges and micropapillae. Histopathological diagnosis was Lymphocytic Mastitis with features of Atypical Ductal Hyperplasia.: The diagnosis of Diabetic Mastopathy is based on clinical details, radiological evaluation and biopsy correlation. Sometimes it’s difficult to differentiate from carcinoma breast, so histopathological examination is indicated for a definitive diagnosis and management.

Diagnostic performance of dynamic contrast-enhanced magnetic resonance imaging parameters and serum tumor markers in rectal carcinoma prognosis

BACKGROUND Rectal carcinoma (RC), one of the most common malignancies globally, presents an increasing incidence and mortality year by year, especially among young people, which seriously affects the prognosis and quality of life of patients. At present, dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) parameters and serum carbohydrate antigen 19-9 (CA19-9) and CA125 Levels have been used in clinical practice to evaluate the T stage and differentiation of RC. However, the accuracy of these evaluation modalities still needs further research. This study explores the application and value of these methods in evaluating the T stage and differentiation degree of RC. AIM To analyze the diagnostic performance of DCE-MRI parameters combined with serum tumor markers (TMs) in assessing pathological processes and prognosis of RC patients. METHODS A retrospective analysis was performed on 104 RC patients treated at Yantai Yuhuangding Hospital from May 2018 to January 2022. Patients were categorized into stages T1, T2, T3, and T4, depending on their T stage and differentiation degree. In addition, they were assigned to low (L group) and moderate-high differentiation (M + H group) groups based on their differentiation degree. The levels of DCE-MRI parameters and serum CA19-9 and CA125 in different groups of patients were compared. In addition, the value of DCE-MRI parameters [volume transfer constant (Ktrans), rate constant (Kep), and extravascular extracellular volume fraction (Ve) in assessing the differentiation and T staging of RC patients was discussed. Furthermore, the usefulness of DCE-MRI parameters combined with serum CA19-9 and CA125 Levels in the evaluation of RC differentiation and T staging was analyzed. RESULTS Ktrans, Ve, CA19-9 and CA125 were higher in the high-stage group and L group than in the low-stage group and M + H Group, respectively (P < 0.05). The areas under the curve (AUCs) of the Ktran and Ve parameters were 0.638 and 0.694 in the diagnosis of high and low stages, respectively, and 0.672 and 0.725 in diagnosing moderate-high and low differentiation, respectively. The AUC of DCE-MRI parameters (Ktrans + Ve) in the diagnosis of high and low stages was 0.742, and the AUC in diagnosing moderate-high and low differentiation was 0.769. The AUCs of CA19-9 and CA-125 were 0.773 and 0.802 in the diagnosis of high and low stages, respectively, and 0.834 and 0.796 in diagnosing moderate-high and low differentiation, respectively. Then, we combined DCE-MRI (Ktrans + Ve) parameters with CA19-9 and CA-125 and found that the AUC of DCE-MRI parameters plus serum TMs was 0.836 in the diagnosis of high and low stages and 0.946 in the diagnosis of moderate-high and low differentiation. According to the Delong test, the AUC of DCE-MRI parameters plus serum TMs increased significantly compared with serum TMs alone in the diagnosis of T stage and differentiation degree (P < 0.001). CONCLUSION The levels of the DCE-MRI parameters Ktrans and Ve and the serum TMs CA19-9 and CA125 all increase with increasing T stage and decreasing differentiation degree of RC and can be used as indices to evaluate the differentiation degree of RC in clinical practice. Moreover, the combined evaluation of the above indices has a better effect and more obvious clinical value, providing important guiding importance for clinical condition judgment and treatment selection.

Inflammatory myofibroblastic tumor of urinary bladder in young male: A case report and literature review

The objective of this study is to present a rare case of inflammatory myofibroblastic tumor (IMT) of the urinary bladder in young male, detailing its clinical presentation, diagnostic approach, treatment strategy, and outcome. Additionally, the objective includes conducting a literature review to provide insights into the characteristics, management, and prognosis of this uncommon tumor entity.A 20-year-old male presenting with dysuria and dribbling of urine underwent diagnostic workup including imaging studies, cystoscopy. On cystoscopy there was a presence of 5x4 cm sized pedunculated mass in the urinary bladder. Partial cystectomy is done and specimen is examined for histopathology. Histopathological examination and Immunohistochemistry study of the tumor specimen was performed to confirm the diagnosis of inflammatory myofibroblastic tumor. A thorough literature review was conducted to gather relevant studies on IMT of the urinary bladder, focusing on clinical presentations, diagnostic modalities, treatment approaches, and outcomes. Diagnostic evaluation revealed a mass lesion in the urinary bladder, and histopathological examination following partial cystectomy confirmed the diagnosis of inflammatory myofibroblastic tumor. The patient underwent surgical excision of the tumor followed by adjuvant therapy. Regular follow-up examinations showed no evidence of tumor recurrence. The literature review identified a limited number of reported cases of IMT of the urinary bladder in young male, emphasizing its rarity and diverse clinical presentations. Various diagnostic modalities and treatment options, including surgery, chemotherapy, and targeted therapy, were discussed in the reviewed literature. Inflammatory myofibroblastic tumor of the urinary bladder is a rare neoplasm at younger age that can present with nonspecific symptoms, making its diagnosis challenging. However, timely recognition and appropriate management, including surgical resection and adjuvant therapy, can lead to favorable outcomes with low recurrence rates. This case report highlights the importance of considering IMT in the differential diagnosis of bladder masses in young patient and underscores the need for further research to better understand the pathogenesis and optimal treatment strategies for this rare tumor entity.

Hepatocellular carcinoma presenting as an extrahepatic mass: A case report and review of literature

BACKGROUND Hepatocellular carcinoma (HCC) is a primary liver tumor generally diagnosed based on radiographic findings. Metastatic disease is typically associated with increased tumor diameter, multifocality, and vascular invasion. We report a case of a patient who presented with extrahepatic HCC metastasis to a portocaval lymph node with occult hepatic primary on computed tomography (CT). We review the literature for cases of extrahepatic HCC presentation without known hepatic lesions and discuss strategies to differentiate between metastatic and ectopic HCC. CASE SUMMARY A 67-year-old male with remotely treated hepatis C was referred for evaluation of an enlarging portocaval, mixed cystic-solid mass. Serial CT evaluations demonstrated steatosis, but no cirrhosis or liver lesions. Endoscopic ultrasound demonstrated a normal-appearing pancreas, biliary tree, and liver. Fine needle aspiration yielded atypical cells. The differential diagnosis included duodenal or pancreatic cyst, lymphoproliferative cyst, stromal or mesenchymal lesions, nodal involvement from gastrointestinal or hematologic malignancy, or duodenal gastro-intestinal stromal tumor. After review by a multidisciplinary tumor board, the patient underwent open surgical resection of a 5.2 cm × 5.5 cm retroperitoneal mass with pathology consistent with moderately-differentiated HCC. Magnetic resonance imaging (MRI) subsequently demonstrated a 1.2 cm segment VIII hepatic lesion with late arterial enhancement, fatty sparing, and intrinsic T1 hyperintensity. Alpha fetoprotein was 23.3 ng/mL. The patient was diagnosed with HCC with portocaval nodal involvement. Review: We surveyed the literature for HCC presenting as extrahepatic masses without history of concurrent or prior intrahepatic HCC. We identified 18 cases of extrahepatic HCC ultimately found to represent metastatic lesions, and 30 cases of extrahepatic HCC found to be primary, ectopic HCC. CONCLUSION Hepatocellular carcinoma can seldomly present with extrahepatic metastasis in the setting of occult primary. In patients with risk factors for HCC and lesions suspicious for metastatic disease, MRI may be integral to identifying small hepatic lesions and differentiating from ectopic HCC. Tumor markers may also have utility in establishing the diagnosis.

Sacrococcygeal chordoma with spontaneous regression due to a large hemorrhagic component.

Chordoma is a malignant bone tumor originating from notochordal remnants, most commonly occurring at the sacrococcygeal junction. We present a case of a 70-year-old male with chronic pain in the lower lumbar spine. MRI performed elsewhere revealed a large tumor that involved S4, S5, and the coccyx with a presacral soft tissue component. The lesion was heterogeneously hyperintense on T2-weighted images with a thick hypointense rim anteriorly. On T1-weighted images, the lesion showed a native hyperintense signal centrally probably due to hemorrhage. Based on this MRI, the diagnosis of chordoma was suggested. A spontaneous marked reduction in size was observed on a 4-week interval MRI performed at our institution before biopsy. Due to spontaneous tumor shrinkage along with peripheral enhancement, a differential diagnosis of infection or bleeding in a retrorectal cyst was proposed. This case teaches us that chordomas may contain a large hemorrhagic component, which is hyperintense on T1-weighted images and shows peripheral rim enhancement. Spontaneous shrinkage of a tumor may occur due to the resolution of a hematoma within weeks. Biopsy is key to obtain the correct diagnosis. Understanding the typical and more rare features of chordomas is key for MSK radiologists as well as pathologists. Chordomas are typically slow-growing tumors, but radiologists should be aware that intratumoral hemorrhage can lead to rapid changes in tumor size, which may be mistaken for either regression or progression of tumor. This case highlights the importance of considering hemorrhagic events within chordomas in the differential diagnosis when observing size fluctuations on imaging.

Clinical and Anthropological Analyses of a Case From 19th Century South Africa With a Confluence of Uncommon Cranial Pathological Conditions.

This study combines clinical and anthropological analyses to investigate the complex cranial pathology of a South African individual from the 19th century. The cranium was examined macroscopically and radiographically. Conducting a standard differential diagnosis was challenging given the complexity and uncommon nature of the pathology and required drawing on relatively sparse paleopathological and clinical case reports. Multiple conditions were identified including biparietal thinning, basilar invagination, platybasia, and complicated chronic frontal sinusitis, where the intracranial extension of sinus infection may likely have contributed to the individual's death. The authors urge for awareness of these uncommon conditions, as their presence can easily be overlooked or confound skeletal assessments. This clinical study contributes to the authors' understanding of uncommon and poorly described paleopathological diseases and will help to better facilitate their diagnosis in future research. It represents one of the first studies describing such an unusual cooccurrence of uncommon pathologies in an archeological individual.

Intraoperative Frozen Section Evaluation of Pancreatic Specimens and Related Liver Lesions.

Frozen sections are essential in the surgical management of patients, especially those with pancreatic masses, because frozen sections can provide answers intraoperatively and aid in treatment decisions. Pancreas frozen sections are challenging because of the small tissue size, processing artifacts, neoadjuvant treatment effects, and concurrent pancreatitis-like obstructive changes. The authors present a review of intraoperative evaluation of pancreatic specimens. To provide an approach to the diagnosis of pancreatic adenocarcinoma on frozen sections and to discuss commonly encountered pitfalls. Indications for pancreas frozen sections and specific margin evaluation will be discussed. We will also review frozen section diagnosis of subcapsular liver lesions and tumors other than metastases of pancreatic ductal adenocarcinoma. Data sources included a literature review and the personal experiences of the authors. The features for diagnosis of pancreatic adenocarcinoma include disordered architecture, glands at abnormal locations, and atypical cytology. It is important to be aware of the pitfalls and clues on frozen section. The evaluation of resection margins can be challenging, and in the setting of the resection of cystic tumors, the key is the diagnosis of high-grade dysplasia or cancer. Finally, it is vital to remember the differential diagnosis for subcapsular liver lesions because not all lesions will be metastases of adenocarcinomas or bile duct adenomas. Frozen sections remain a useful tool for the intraoperative management of patients with pancreatic tumors.

An Unpropitious Surprise Post Vaginal Hysterectomy – A Case of Incidentally Discovered Extra-Gastrointestinal Stromal Tumour

Extra-gastrointestinal stromal tumours (EGIST) are rare mesenchymal tumours that arise outside the gastrointestinal tract and mainly affect the omentum, mesentery, and retroperitoneum. We report a case of EGIST in an elderly female patient at an unusual location. The patient was referred to our centre with hemoperitoneum post vaginal hysterectomy for the treatment of third-degree utero-vaginal prolapse. Ultrasonography (USG) of abdomen and pelvis was done which revealed a heterogenous tumour in the upper abdomen. The tumour mass measured 23x18x8.5cms and was abutting the greater curvature of stomach without infiltration. A diagnosis of extra-gastrointestinal stromal tumour, spindle cell type, high grade, with pseudo signet ring appearance was rendered based on the morphology and immunohistochemistry with CD117(c-kit) and DOG1. Rupture of cancerous mass in the abdomen is one of the causes to be kept in mind in hemoperitoneum and EGIST should be considered in the differential diagnosis of large, multi-nodular, primary lesions of the abdomen. A high degree of suspicion is needed as these patients present late and are often diagnosed incidentally during investigations for unrelated medical conditions. 10% of EGISTs are primarily disseminated and the site of origin cannot be established with certainty, emphasizing the enigma of its origin as encountered in the present case.International Journal of Human and Health Sciences Vol. 08 No. 02 Apr’24 Page: 207-211

Chronic secondary orofacial pain as the first symptom of chronic non-bacterial osteomyelitis in the mandible: a case report and literature review

Chronic non-bacterial osteomyelitis clinically manifests with pain, swelling and limitation of movement. When it affects the jaws, it can cause pain, similar to other orofacial conditions, requiring a correct differential diagnosis. The objective of this study was to report a clinical case of chronic secondary orofacial pain as the first manifestation of an inflammatory bone disease located in the mandible, in addition to discussing the diagnostic hypotheses, the pathophysiological aspects and the therapy. A 21-year-old male patient came to the service complaining of pain in the mandible, preauricular and temporal regions bilaterally with one year of evolution, associated with anterior open bite and psychological impairment. So, it was chronic orofacial pain secondary to non-bacterial osteomyelitis with a high rate of bone remodeling. Elevation of pro-inflammatory cytokines can lead to an increased power cycle of nociceptive signaling, chronic inflammation, and bone loss. Pro-inflammatory cytokines that originate in neuronal and glial cells can trigger effects such as chronic hyperexcitability, changes in the phenotypic expression of nociceptors and abnormal processing of noxious signals. The patient is still undergoing treatment and without pain. Careful assessment, ordering tests and multidisciplinary investigation are essential in the care of patients with chronic and complex orofacial pain.

A rare case of multisystemic Langerhans cell histiocytosis in an adult affecting the thyroid gland, skeletal system, and pituitary gland: A case report.

Langerhans cell histiocytosis (LCH) is a rare disorder affecting usually children and rarely adults. The most common site affected is bone. The involvement of the thyroid gland in LCH is extremely rare and it is usually observed in an adult as a multisystemic disease. Adult males presented with anterior neck swelling, and fine needle aspiration cytology (FNAC) diagnosed it as suspicious for malignancy. On frozen sectioning, differential diagnosis was given as non-Hodgkin lymphoma and poorly differentiated malignancy. On immunohistochemistry (IHC), tumor cells were positive for CD1a and S100p. Thus, the final diagnosis offered was LCH-thyroid. The pathogenesis is unclear and believed to be related to immune dysfunction, cytokine mediators, viral infection, smoking, and genetic factors. Due to its rarity, thyroid LCH is often misinterpreted as other common disorders of the thyroid and results in delayed diagnosis. This case highlights the importance of histomorphology and the use of ancillary techniques such as IHC to arrive at a diagnosis in time and hence the treatment.

A Case of Cervical Chordoma

A 48 year old male presented with neck pain and left arm pain that worsened with movement alongside left arm weakness, numbness, and tingling. The differential diagnosis for a patient with symptoms of a neck mass includes benign tumors like neurofibromas, malignant tumors like chordomas, and non-neoplastic conditions like cervical spondylitis. A magnetic resonance imaging (MRI) study of the cervical spine with and without contrast identified a T1 hypointense, T2 hyperintense, heterogeneously enhancing prevertebral mass with parapharyngeal extension. A direct laryngoscopy with biopsy was performed and revealed a paraspinal tumor. The patient’s diagnosis of cervical chordoma was confirmed upon detection of Brachyury, a gene that encodes a transcription factor which promotes epithelial mesenchymal transition (EMT) in chordoma pathogenesis. Chordomas are slow-growing tumors located within the body’s midline and they are associated with poorer outcomes because of neurovascular encasement at time of presentation. Chordomas are rare, with an incidence of 1 in 1,000,000. Approximately 6% of chordomas are located in the cervical spine. They are typically treated with surgery followed by radiation therapy. The patient underwent anterior resection for the prevertebral mass in the C2-C6 section of the cervical spinal cord. Surgery achieved subtotal resection and involved removal of the spinous processes of C3-C5 and reconstruction of the cervical spine with implants. The patient will be starting proton beam radiotherapy for his adjuvant treatment. Although rare, it is important to keep chordomas in the differential diagnosis when evaluating a patient with a neck mass.

Towards XAI agnostic explainability to assess differential diagnosis for Meningitis diseases

Abstract Meningitis, characterized by meninges and cerebrospinal fluid (CSF) inflammation, poses diagnostic challenges due to diverse clinical manifestations. This work introduces an explainable AI automatic medical decision methodology that determines critical features and their relevant values for the differential diagnosis of various meningitis cases. We proceed with knowledge acquisition to define the rules for this research. Currently, we have established the etiological diagnosis of Meningococcaemia, Meningococcal Meningitis, Tuberculous Meningitis, Aseptic Meningitis, Haemophilus influenzae Meningitis, and Pneumococcal
Meningitis. The data preprocessing was conducted after collecting data from samples with meningitis diseases at Setif Hospital in Algeria. Tree-based ensemble methods were then applied to assess the model’s performance. Finally, we implement an XAI agnostic explainability approach based on the SHapley Additive exPlanations technique to attribute each feature’s contribution to the model’s output. Experiments were conducted on the collected dataset and the SINAN database, obtained from the Brazilian Government’s Health Information System on Notifiable Diseases, which comprises 6729 patients aged over 18 years. The Extreme Gradient Boosting model was chosen for its superior performance metrics (Accuracy: 0.90, AUROC: 0.94, and F1-score: 0.98). Setif’s hospital data revealed notable performance metrics (Accuracy: 0.7143, F1-Score: 0.7857). This study's findings showcase each feature's contribution to the model’s predictions and diagnosis. It also reveals critical biomarker ranges associated with distinct types of Meningitis. Significant diagnostic effect was found for Meningococcal Meningitis with elevated neutrophil levels (>40%) and balanced lymphocyte levels (40-60%). Tuberculous Meningitis demonstrated low neutrophil levels (<60%) and elevated lymphocyte levels (>60%). Haemophilus influenzae meningitis exhibited a predominance of neutrophils (>80%), while Aseptic meningitis showed lower neutrophil levels (<40%) and lymphocyte levels within the range of 50-60%. The majority of the AI automatic medical decision results are twinned with validation by our team of infectious disease experts, confirming the alignment of algorithmic diagnoses with clinical practices.

The value of dynamic FDG PET/CT in the differential diagnosis of lung cancer and predicting EGFR mutations

Objectives18F-fluorodeoxyglucose (FDG) PET/CT has been widely used for the differential diagnosis of cancer. Semi-quantitative standardized uptake value (SUV) is known to be affected by multiple factors and may make it difficult to differentiate between benign and malignant lesions. It is crucial to find reliable quantitative metabolic parameters to further support the diagnosis. This study aims to evaluate the value of the quantitative metabolic parameters derived from dynamic FDG PET/CT in the differential diagnosis of lung cancer and predicting epidermal growth factor receptor (EGFR) mutation status.MethodsWe included 147 patients with lung lesions to perform FDG PET/CT dynamic plus static imaging with informed consent. Based on the results of the postoperative pathology, the patients were divided into benign/malignant groups, adenocarcinoma (AC)/squamous carcinoma (SCC) groups, and EGFR-positive (EGFR+)/EGFR-negative (EGFR-) groups. Quantitative parameters including K1, k2, k3, and Ki of each lesion were obtained by applying the irreversible two-tissue compartmental modeling using an in-house Matlab software. The SUV analysis was performed based on conventional static scan data. Differences in each metabolic parameter among the group were analyzed. Wilcoxon rank-sum test, independent-samples T-test, and receiver-operating characteristic (ROC) analysis were performed to compare the diagnostic effects among the differentiated groups. P < 0.05 were considered statistically significant for all statistical tests.ResultsIn the malignant group (N = 124), the SUVmax, k2, k3, and Ki were higher than the benign group (N = 23), and all had-better performance in the differential diagnosis (P < 0.05, respectively). In the AC group (N = 88), the SUVmax, k3, and Ki were lower than in the SCC group, and such differences were statistically significant (P < 0.05, respectively). For ROC analysis, Ki with cut-off value of 0.0250 ml/g/min has better diagnostic specificity than SUVmax (AUC = 0.999 vs. 0.70). In AC group, 48 patients further underwent EGFR testing. In the EGFR (+) group (N = 31), the average Ki (0.0279 ± 0.0153 ml/g/min) was lower than EGFR (-) group (N = 17, 0.0405 ± 0.0199 ml/g/min), and the difference was significant (P < 0.05). However, SUVmax and k3 did not show such a difference between EGFR (+) and EGFR (-) groups (P>0.05, respectively). For ROC analysis, the Ki had a cut-off value of 0.0350 ml/g/min when predicting EGFR status, with a sensitivity of 0.710, a specificity of 0.588, and an AUC of 0.674 [0.523–0.802].ConclusionAlthough both techniques were specific, Ki had a greater specificity than SUVmax when the cut-off value was set at 0.0250 ml/g/min for the differential diagnosis of lung cancer. At a cut-off value of 0.0350 ml/g/min, there was a 0.710 sensitivity for EGFR status prediction. If EGFR testing is not available for a patient, dynamic imaging could be a valuable non-invasive screening method.

A rare case of TFEB/6p21/VEGFA-amplified renal cell carcinoma diagnosed by whole-exome sequencing: clinicopathological and genetic feature report and literature review

BackgroundTFEB/6p21/VEGFA-amplified renal cell carcinoma (RCC) is rare and difficult to diagnose, with diverse histological patterns and immunohistochemical and poorly defined molecular genetic characteristics.Case presentationWe report a case of a 63-year-old male admitted in 2017 with complex histomorphology, three morphological features of clear cell, eosinophilic and papillary RCC and resembling areas of glomerular and tubular formation. The immunophenotype also showed a mixture of CD10 and P504s. RCC with a high suspicion of collision tumors was indicated according to the 2014 WHO classification system; no precise diagnosis was possible. The patient was diagnosed at a different hospital with poorly differentiated lung squamous cell carcinoma one year after RCC surgery. We exploited molecular technology advances to retrospectively investigate the patient’s molecular genetic alterations by whole-exome sequencing. The results revealed a 6p21 amplification in VEGFA and TFEB gene acquisition absent in other RCC subtypes. Clear cell, papillary, chromophobe, TFE3-translocation, eosinophilic solid and cystic RCC were excluded. Strong TFEB and Melan-A protein positivity prompted rediagnosis as TFEB/6p21/VEGFA-amplified RCC as per 2022 WHO classification. TMB-L (low tumor mutational load), CCND3 gene acquisition and MRE11A and ATM gene deletion mutations indicated sensitivity to PD-1/PD-L1 inhibitor combinations and the FDA-approved targeted agents Niraparib (Grade C), Olaparib (Grade C), Rucaparib (Grade C) and Talazoparib (Class C). GO (Gene Ontology) and KEGG enrichment analyses revealed major mutations and abnormal CNVs in genes involved in biological processes such as the TGF-β, Hippo, E-cadherin, lysosomal biogenesis and autophagy signaling pathways, biofilm synthesis cell adhesion substance metabolism regulation and others. We compared TFEB/6p21/VEGFA-amplified with TFEB-translocated RCC; significant differences in disease onset age, histological patterns, pathological stages, clinical prognoses, and genetic characteristics were revealed.ConclusionWe clarified the patient’s challenging diagnosis and discussed the clinicopathology, immunophenotype, differential diagnosis, and molecular genetic information regarding TFEB/6p21/VEGFA-amplified RCC via exome analysis and a literature review.

Glomangiopericytoma of the Nasal Sinus Mimicking Dacryocoele: A Case Report and Literature Review

Introduction: Glomangiopericytoma (GPC) of the nasal sinus is a rare mesenchymal tumor that can mimic various benign pathologies in this anatomical region. We report an unusual clinical case and describe the diagnostic and therapeutic challenges encountered. Case Presentation: A 62-year-old woman presented with swelling of the left inner eye angle, tearing, and ipsilateral nasal obstruction. Clinical examination and imaging initially suggested chronic dacryocystitis. A polypoid nasal sinus mass was detected on endoscopy and computed tomography. Complete excision was performed via endoscopic nasal sinus surgery. The histopathological analysis confirmed the definitive diagnosis of glomangiopericytoma. Discussion: Nasal sinus GPC is a rare tumor, typically benign, derived from perivascular cells. Its clinical presentation is nonspecific and can mimic more common pathologies. Diagnosis is based on imaging and histopathological analysis with immunohistochemistry. The treatment of choice is complete surgical excision, preferably via minimally invasive endoscopic approach. Long-term close monitoring is recommended due to the risk of local recurrence. Conclusion: This clinical case highlights the importance of considering glomangiopericytoma in the differential diagnosis of nasal sinus masses, even in cases of initial benign presentation. A multidisciplinary approach, involving imaging, surgery, and histopathological analysis, is essential for optimal management.

ULTRASOUND FINDINGS IN MORTON’S NEUROMA

Morton's neuroma is a pseudotumor lesion that can cause discomfort in the feet. Thediagnosis of this disease is carried out by the attending physician, through the evaluation ofthe symptoms presented by the patient, in addition to a physical examination. Imaging exams,such as ultrasound, can help diagnose Morton's neuroma, or exclude differential diagnoses.

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): A case report with surgical and neuropathological differential diagnosis.

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a rare entity of low-grade neuroepithelial tumors that primarily affects children and young adults. This distinct type of tumor presents unique challenges in diagnosis and management. With its relatively recent identification, researchers and clinicians are striving to understand the characteristics, behavior, and optimal treatment strategies. The symptoms are primarily related to seizures. However, PLNTY can be asymptomatic in some cases. This is a single-center case report study and a literature review paper. We reviewed a case treated and diagnosed at the Ankara University Faculty of Medicine, Department of Neurosurgery. The demographic data, clinical follow-ups, laboratory, and radiological data of the patients were assessed. We present a 32-year-old male patient who has undergone gross total surgical excision with strict clinical follow-up. Clinical course as well as surgical data of the patient were observed and analyzed. On imaging, morphologic resembling and indistinctive clinical course can be nonspecific, contributing to diagnostic uncertainties. This case report was written with the notion that rare diagnoses present an opportunity to understand the progression and patho-oncological factors that can pave the way for better treatment.

Detection and identification of circulating tumor cells in parathyroid tumors and correlation analysis with clinicopathological features.

The differential diagnosis of parathyroid carcinoma (PC)/parathyroid adenoma (PA) in parathyroid tumors is critical for their management and prognosis. Circulating tumor cells (CTCs) identification in the peripheral blood of parathyroid tumors remains unknown. In this study, we proposed to investigate the differences of CTCs in PC/PA and the relationship with clinicopathologic features to assess its relevance to PC and value in identifying PC/PA. Peripheral blood was collected from 27 patients with PC and 37 patients with PA treated in our hospital, and the number of chromosome 8 aberrant CTCs was detected by negative magnetic bead sorting fluorescence in situ hybridization (NE-FISH). The differences of CTCs in PC/PA peripheral blood were compared and their diagnostic efficacy was evaluated, and the correlation between CTCs and clinicopathological features of PC was further explored. CTCs differed significantly in PC/PA (p = 0.0008) and were up-regulated in PC, with good diagnostic efficacy. CTCs combined with alkaline phosphatase (ALP) assay improved the diagnostic efficacy in identifying PC/PA (AUC = 0.7838, p = 0.0001). The number of CTCs was correlated with tumor dimensions, but not significantly correlated with clinical markers such as calcium and PTH and pathological features such as vascular invasion, lymph node metastasis and distant metastasis. As a non-invasive liquid biopsy method, CTCs test combined with ALP test can be used as an important reference basis for timely and accurate identification and treatment of PC. It is of great significance to improve the current situation of PC diagnosis, treatment and prognosis.

Localized Urinary Bladder Amyloidosis as Urothelial Cancer Mimicker.

Localized amyloidosis of the bladder is rare and often mimics bladder malignancy. It is typically associated with the extracellular deposition of monoclonal light chains, either κ or λ. The cause is unknown, but it is thought to be due to chronic inflammation/cystitis. To highlight the importance of localized urinary bladder amyloidosis as a rare mimicker of urothelial malignancy and elucidate its clinical, histopathologic, and cytopathologic manifestations. Cases of urinary bladder amyloidosis diagnosed during 2000-2023 were retrieved retrospectively from pathology archives. Electronic medical records, including cystoscopy findings and pathology slides including Congo red stain, were reviewed. Here we present 6 patients with localized urinary bladder amyloidosis. Four of the 6 patients were women, with ages ranging from 46 to 69 years, and a mean age of 58 years. Five of 6 patients presented with hematuria, while in 1 patient, bladder amyloidosis was discovered incidentally. Cystoscopy findings invariably were concerning for malignancy, with raised erythema in 5 patients and fungating mass protruding into the bladder lumen in 1 patient. Bladder biopsies and urine cytology were negative for malignancy in all cases. Congo red-positive amyloid deposits involved lamina propria with sparing of the detrusor muscle. In 5 cases, the deposits were typed as derived from the λ light chain, whereas no information was available for 1 patient. Subsequent clinical workup ruled out systemic amyloidosis. These cases of urinary bladder amyloidosis highlight the importance of considering rare amyloidosis in the differential diagnosis of hematuria and cystoscopy with a lesion mimicking malignancy.

Intrasellar chordoma masquerading as a pituitary neuroendocrine tumor: Illustrative case

Background: Chordomas are rare, locally aggressive neoplasms recognized as derivatives of the notochord vestiges. These tumors typically involve the midline axial skeleton, and intracranial chordomas exhibit proclivity for the spheno-occipital region. However, purely intrasellar occurrences are extremely rare. We report a case of intrasellar chordoma, which masqueraded as a pituitary neuroendocrine tumor. Case Description: An 87-year-old female presented with an acutely altered mental state after a few-week course of headaches and decreased left vision. Adrenal insufficiency was evident, and magnetic resonance imaging revealed an intrasellar lesion with heterogeneous contrast enhancement and marked T2 hyperintensity. Central adrenal insufficiency due to an intrasellar lesion was suspected. Cortisol replacement was initiated, and transsphenoidal surgery was performed. Anterosuperior displacement of the normal pituitary gland and the absence of the bony dorsum sellae were notable during the procedure. Histological examination led to a diagnosis of conventional chordoma, and upfront adjuvant stereotactic radiosurgery was executed. She has been free from tumor progression for 12 months. Conclusion: This case and literature review suggested that the pathognomonic features of intrasellar chordoma were heterogeneous contrast enhancement, marked T2 hyperintensity, osteolytic destruction of the dorsum sellae, and anterosuperior displacement of the pituitary gland. Clinical outcomes seemed slightly worse than those of all skull base chordomas, which were the rationale for upfront radiosurgery in our case. Neurosurgeons should include intrasellar chordomas in the differential diagnosis of intrasellar lesions, carefully dissect them from the adjacent critical anatomical structures, and consider upfront radiosurgery to achieve optimal patient outcomes.