Biopsy Findings Research Articles

Co-occurrence of Kimura's Disease and Keratoconus: A Case Report

Kimura disease, often referred to as eosinophilic granuloma, is an uncommon and long-lasting condition that is mostly seen in people of Asian ancestry. Early signs include increased levels of IgE in the blood, nodules under the skin, and swelling of the lymph nodes. Keratoconus is a disorder where both corneas get steeper and vision is reduced. It is not genetically connected to Kimura disease, although both illnesses are more common among Asian people. Performing a histopathological investigation of the mass is essential in order to get an accurate diagnosis. This case reports a 24-year-old male patient living in Saudi Arabia who had a growth on his face that extended above and below the medial canthus of his eye. The patient also had a gradual decrease in vision in both eyes. The patient received a comprehensive biopsy procedure and topographical examinations. The biopsy findings indicated the presence of angiolymphoid hyperplasia with eosinophilia, and no accompanying lymphadenopathy was seen. The diagnosis of Keratoconus was verified by the examination of the topography. Considering these results, the main therapeutic option is surgical removal of the tumor. This case report offers valuable insights into the diagnostic criteria, differential diagnosis, and management of Kimura disease, specifically in relation to keratoconus. Additionally, it contributes to the existing literature by presenting the first documented case of Kimura disease with concurrent keratoconus.

Kidney Injury in Patient with Non-small-cell Lung Cancer Receiving Tepotinib.

We herein report a 68-year-old man with advanced non-small-cell lung cancer treated with tepotinib who showed marked general edema, hypoalbuminemia, and an elevated serum creatinine level. Although tepotinib-induced kidney injury due to creatinine transporter inhibition has been reported, renal biopsy findings suggested tubulointerstitial injury due to decreased renal blood flow, likely secondary to refractory fluid retention. This case highlights the potential for true kidney injury during tepotinib therapy and underscores the importance of careful monitoring and management of adverse renal effects.

Optimization of Extended Pelvic Lymph Node Dissection Side for Prostate Cancer.

This study aimed to show the association between tumor location and laterality of positive lymph nodes by evaluating biopsy and magnetic resonance imaging (MRI) findings, and to optimize the extended pelvic lymph node dissection (ePLND) side for prostate cancer. The study enrolled patients who underwent robot-assisted radical prostatectomy with ePLND. Tumor locations were determined according to International Society of Urological Pathology grade group 4/5 in biopsies and Prostate Imaging-Reporting and Data System category 4/5 in MRI results. The concordance of tumor location lobe and positive lymph node side with the performance of tumor location-guided ePLND for positive lymph node detection was evaluated. For 301 patients who underwent ePLND at Kyushu University Hospital, tumor locations determined by biopsy and MRI findings showed no lesion in 8 (2.7%) patients, unilateral lobe in 223 (74.1%) patients, and bilateral lobe in 70 (23.3%) patients. The accuracies for detection of any and all positive lymph nodes by tumor location-guided unilateral ePLND were 99.6% and 97.3%, respectively. Among the patients at St. Luke's International Hospital, the accuracies for detection of any and all positive lymph nodes by tumor location-guided unilateral ePLND were estimated to be 99.0% and 97.3%, respectively. This study proposed tumor location-guided ePLND according to biopsy and MRI findings. This novel strategy is expected to reduce the burden of bilateral ePLND at the cost of acceptable risk of failing to detect positive lymph nodes.

The effect of smoking on Sjögren's disease development and severity: a comprehensive literature review.

Unlike other autoimmune diseases, little is known about the environmental risk factors for Sjögren's disease (SjD). Smoking is an important risk factor for rheumatoid arthritis but the relationship between smoking and SjD is more complex to understand. Current smoking seems to be negatively linked to SjD, whereas there is mixed data on past smoking. Smoking also seems to impact SjD outcomes, influencing comorbidities like hypertension or associated immune-mediated diseases, and, less clearly, extraglandular involvement, particularly pulmonary disease. Minor salivary gland biopsy findings indicate a lower frequency of positivity associated with smoking, with a potential dose-response relationship. However, smoking's uncertain effect on dryness symptoms complicates interpretation of data with reverse causation remaining a possibility. This review underscores the complexity of the smoking-SjD connection, raising questions about causality and potential protective effects on either SjD's development and/or classification criteria. Understanding these nuances may help unravel SjD pathogenesis and inform future therapeutic strategies.

De Novo C3 Glomerulonephritis of Allograft Associated with Factor H Autoantibody in a Patient with Systemic Lupus Erythematosus: A Case Report

C3 Glomerulonephritis (C3GN) is a rare disease with a challenging diagnosis and poor prognosis. It is characterized by dysregulation of alternate complement pathway and diagnosed by biopsy findings of isolated or predominant C3 deposits on immunofluorescence (IF) staining. Dysregulation of alternate complement pathway (ACP) caused by genetic mutations or autoantibodies leads to C3 glomerulopathy (C3G) and complement-mediated thrombotic microangiopathies (c-TMA), later also referred to as atypical hemolytic uremic syndrome (aHUS). Autoantibodies like C3 nephritic factor and Factor H autoantibodies (FHAA) are frequently seen as acquired abnormalities in C3GN. SLE is a multi-system complex disorder distinguished by the presence of autoantibodies to multiple nuclear antigens, including DNA and ribonucleoprotein leading to complement activation, characterized by low level of C3 and C4 and may present with c-TMA. There are not many cases of C3GN with SLE that have been described, and current literature lacks strong evidence-based treatment options of post-transplant C3GN. Here, we describe a case of de novo C3GN of allograft in a patient with SLE.

Frequently Suspected, Rarely Confirmed: The Complex Diagnostic Journey of Adult-Onset MELAS—Clinical Evaluation and Cost Implications

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder primarily presenting in pediatric patients, with onset after 40 years being exceptionally rare (1–6%). Here, we report a complex diagnostic journey of a 47-year-old male presenting with new-onset seizures, hemiparesis, and neurocognitive deficits. Initial work-up, including MRI, CSF analysis, and extensive antibody screening, yielded inconclusive results, prompting differential considerations such as autoimmune encephalitis and neoplastic conditions. Finally muscle biopsy findings, coupled with genetic confirmation of the m.3243A>G mutation in the MT-TL1 gene, ultimately established the diagnosis of MELAS. This case depicts the atypical presentation of adult-onset MELAS without initial lactic acidemia, diabetes, or hearing impairment. The prolonged diagnostic process underscores the challenges of identifying rare diseases under today’s financial and administrative constraints. Still ee emphasize the importance of comprehensive diagnostics in rare cases to advance generall understanding and improve future patient outcomes, also amidst resource limitations.

Short Communication: Analysis of the Spectrum of Glomerular Diseases in Chronic Filariasis Diagnosed in a Tertiary Care Hospital in India.

Introduction: The study presents renal manifestations in chronic filariasis, a substantial health concern in the eastern and north-eastern regions of India. Materials and Methods: The study is a retrospective analysis of a renal biopsy series of patients with chronic filariasis from a tertiary care hospital in Odisha. It involves eight cases of chronic filariasis. Results: Common indications of biopsy were nephrotic syndrome, chyluria, and unexplained renal failure. The mean duration from the diagnosis of filariasis to the onset of glomerular diseases was 15.75 years, SD ± 4.2 years. Patients were followed up for a minimum of 6 months. Renal histopathology revealed various patterns, including membranous nephropathy, minimal change disease, IGA nephropathy, and membranoproliferative glomerulonephritis. Conclusion: The study fills a critical gap in the literature by elucidating renal biopsy findings in chronic filariasis. The multifaceted nature of this disease underscores the need for continued research to understand kidney diseases due to filariasis, especially in endemic regions.

Analysis of the Impact of Pharmacological Intervention on the Outcome of High-Risk HPV Infections

This study aims to evaluate the clinical effectiveness of different drug treatment regimens for cervical high-risk human papillomavirus (HR-HPV) infection. Through literature review and randomized group experiment design, the study compares the HPV-DNA clearance rate, TCT results, and colposcopic biopsy findings among the control group, interferon group, and combination treatment group after six months of treatment. The results indicate that recombinant human interferon-2b vaginal effervescent tablets can effectively improve HPV clearance and reduce the risk of lesion progression, although individual responses to treatment vary. Combination therapy may enhance treatment efficacy by boosting immune response. The study also explores the relationship between drug treatment, viral load, cervical lesions, and vaginal microecology, providing scientific support for clinical medication decisions and offering a detailed analysis of the role of pharmacological intervention in the prognosis of HR-HPV infections.

Isolated Microhematuria in Potential Kidney Donors: Evaluating Kidney Biopsy Findings with Dipstick Urinalysis and Urine Microscopy Results

Isolated Microhematuria in Potential Kidney Donors: Evaluating Kidney Biopsy Findings with Dipstick Urinalysis and Urine Microscopy Results

Abstract 4141448: Evaluation of cardiac amyloidosis with cardiac MRI and association with endomyocardial biopsy findings

Introduction: Late gadolinium enhancement (LGE) observed on cardiac magnetic resonance imaging (CMR) has emerged as a potential indicator of myocardial involvement in cardiac amyloidosis (CA). However, discerning which LGE patterns in amyloidosis distinguish it from other cardiomyopathies remains unclear. This study aims to compare LGE characteristics in a predominantly African American cohort who underwent endomyocardial biopsies. Despite advancements in cardiac imaging techniques, the endomyocardial biopsy remains the gold standard for amyloidosis diagnosis. Insights garnered from this analysis could enhance diagnostic precision and facilitate earlier detection. Methods: In this retrospective study at MedStar Union Memorial Hospital in Baltimore, MD, patients who underwent both endomyocardial biopsy and CMR were included. The study compared individuals with biopsy-proven amyloidosis (both AL and ATTR) to those with negative biopsy results. LGE patterns were selected based on their frequent use in CMR interpretation. Statistical analysis employed Pearson chi-square and t-tests. Results: The cohort comprised 42 patients who underwent biopsy, with 13 patients (31%) with positive biopsy results. Among them, 24 were men (57%), and 81% identified as African American. Demographic, anthropomorphic, and objective clinical findings are detailed in Table 1. The average age of the cohort was 68 years, with those with biopsy-proven amyloidosis significantly older (75 vs. 61 years, p = 0.002). Although the biopsy-positive group exhibited a lower absolute NT-pro-BNP, the difference was not statistically significant. The most prevalent LGE patterns among the biopsy-positive group were diffuse (62%) and basal (31%). Notably, 69% of biopsy-positive patients exhibited an LGE pattern described as infiltrative. However, 38% of the biopsy-negative group also manifested infiltrative patterns on LGE, a difference not statistically significant compared to the biopsy-positive group. The positive predictive value of an infiltrative LGE pattern was low (45%). Conclusion: This study compares CMR LGE patterns in biopsy proven CA. Despite findings of an infiltrative LGE pattern on CMR, when using endomyocardial biopsy as the gold standard, the positive predictive value of LGE in differentiating CA patients was low. Further research and larger studies are warranted to explore additional imaging modalities or biomarkers that may complement or refine the diagnostic algorithm for CA.

A case of PLA2R-positive membranous nephropathy with subsequent development of IgG4-related disease.

Membranous nephropathy (MN) is a common cause of adult-onset nephrotic syndrome. It is also known as a minor but established renal manifestation of Immunoglobulin G4-related disease (IgG4-RD). Previous reports suggest that MN can also be an initial manifestation of IgG4-RD, all of which are phospholipase A2 receptor (PLA2R)-negative MN. We describe a case of PLA2R-positive MN that subsequently developed other manifestations of IgG4-RD. A 60-year-old male with nephrotic syndrome was diagnosed as primary MN with positive staining for PLA2R on the initial renal biopsy, which remained in partial remission with supportive therapy using angiotensin II receptor blocker (ARB) without steroid. About 1year later, a renal mass was detected during an annual checkup, and contrast-enhanced computed tomography revealed low-density masses in bilateral kidneys and the head of the pancreas. The findings of endoscopic biopsy of the pancreatic mass were consistent with autoimmune pancreatitis (AIP) and the second renal biopsy showed the findings of MN with tubulointerstitial nephritis, both of which led to a diagnosis of IgG4-RD. The second renal biopsy also showed positive PLA2R. The patient received oral glucocorticoid therapy for IgG4-RD, which improved IgG4-related AIP and renal masses and also resulted in complete remission of MN. To our knowledge, this is the first reported case of PLA2R-positive MN with subsequent development of IgG4-RD. It is sometimes difficult to determine whether PLA2R-positive MN occurring with IgG4-RD is primary MN or secondary MN associated with IgG4-RD. The possibility of developing IgG4-RD should be considered even when preceding MN is PLA2R-positive, suggesting of primary MN.

Etiological Spectrum of Bone Marrow Biopsy in Patients With Pancytopenia.

Background Pancytopenia is defined as a decrease in all three hematologic cell lines. The condition is not a disease in itself but a common pathway caused by various etiologies that can be infectious, autoimmune, genetic, nutritional, and/or malignant. Determining the cause of pancytopenia is a challenge and is key in determining the proper treatment regimen and estimating prognosis. Objective The aim of this study was to evaluate the etiological spectrum of pancytopenia in patients who underwent bone marrow biopsy at a tertiary care hospital. Methodology This study was conducted at the Internal Medicine and Gastroenterology Departments of Lady Reading Hospital, Peshawar, Pakistan, from January 1, 2023, to December 31, 2023. A total of 120 patients with pancytopenia aged 12 to 60 years who underwent bone marrow biopsy were enrolled. Data on age, gender, clinical presentations, and bone marrow biopsy findings were observed. Results The mean age was 34.97 years. Males were more frequently affected, 74 (61.7%), than females, 46 (38.3%). Pallor, 86 (71.7%), and weakness, 66 (55.0%), were the most frequent presentations of pancytopenia. The etiological spectrum showed that megaloblastic anemia was present in 48 (40%) of the cases, followed by infection-related changes in 20 (16.7%) and aplastic anemia in 20 (16.7%). Conclusion Megaloblastic anemia emerged as the leading cause of pancytopenia in our study, followed by aplastic anemia and infection-related changes.

Towards optimized biopsy use in vertebral compression fractures: integrating risk assessment for better clinical decision-making.

Tissue biopsy is the gold standard for differentiating osteoporotic vertebral compression fractures from malignant lesions. However, the necessity of routine biopsies during percutaneous vertebroplasty and kyphoplasty is debated due to the low malignancy detection rates. This study aims to identify key predictors of positive biopsy outcomes in patients undergoing these procedures, with the goal of refining biopsy selection criteria to enhance diagnostic yield and improve clinical decision-making. We conducted a retrospective cohort study involving 295 patients who underwent percutaneous vertebroplasty and kyphoplasty with biopsy between June and December 2023. Clinical data, including age, gender, fracture aetiology, imaging findings, and biopsy results, were collected. Binary logistic regression analysis was employed to identify significant predictors of positive biopsy outcomes. The biopsy results revealed an overall malignancy rate of 1.01% (3/295). Among the 17 cases with abnormal (positive) biopsy findings, 17.6% were malignant, while the remainder were benign. Significant predictors included age (OR = 0.936), gender (OR = 0.307 for males), fracture aetiology (OR = 5.300 for fractures with no apparent cause), and imaging abnormalities (OR = 8.388). This study underscores the low malignancy detection rate in routine biopsies for vertebral compression fractures, advocating for a more selective approach by reserving biopsies for patients with specific high-risk factors. A targeted biopsy strategy, informed by enhanced pre-operative screening, could improve diagnostic accuracy and treatment outcomes, optimizing clinical management.

P015 Concordance between mpMRI, biopsy and surgical findings in patients undergoing prostatectomy: Findings of Histo-MRI mapping study- an ongoing trial

P015 Concordance between mpMRI, biopsy and surgical findings in patients undergoing prostatectomy: Findings of Histo-MRI mapping study- an ongoing trial

Skin biopsy findings of dyskeratotic keratinocytes and vacuolar interface change in a patient with Still's disease

Skin biopsy findings of dyskeratotic keratinocytes and vacuolar interface change in a patient with Still's disease

Portosinusoidální vaskulární choroba s portální hypertenzí – popis případu

Portosinusoidal vascular disease (PSVD) is a rarely recognized liver condition caused by the involvement of small hepatic vessels. The diagnosis is established based on a set of clinical and/or histopathological criteria, with the absolute requirement of excluding liver cirrhosis through biopsy. Clinically, PSVD often presents with complications related to portal hypertension, although not all patients exhibit these signs. This article discusses the case of a 71-year-old patient with known splenomegaly, which had not been fully investigated and lacked a hematological explanation. The patient was evaluated for severe symptomatic microcytic anemia, likely secondary to portal hypertension, despite the absence of overt bleeding symptoms. During hospitalization, ligation of large, high-risk esophageal varices was performed, and no other sources of anemia were identified. Pre- or post-hepatic causes of portal hypertension were ruled out. Liver elastography results were within normal ranges, and liver function tests were normal except for a marginal isolated elevation of gamma-glutamyltransferase. Liver function remained intact. Liver biopsy findings were consistent with a diagnosis of PSVD. The patient did not have any identifiable associated conditions and was not taking any medications known to pose a risk. Therefore, treatment was focused solely on managing the complications of portal hypertension. Outpatient follow-up included the eradication of esophageal varices. Treatment with oral iron supplements led to the normalization of hemoglobin levels, which remained stable for months after the discontinuation of therapy, and liver function tests continued to be normal.

C3 glomerulonephritis with genetically confirmed C3 deficiency in a pediatric patient: a case report

Complement component 3 glomerulonephritis (C3GN) is a rare kidney disease characterized by complement dysregulation that results in prominent complement component 3 (C3) deposition in the kidneys. The clinical course of C3GN varies from mild hematuria to progressive chronic kidney disease. In most patients, C3GN is driven by acquired factors, namely, autoantibodies that target C3 or C5 convertases. Genetic variations in complement-related genes are less frequent. We report the case of a 9-yearold Korean boy who presented with microscopic hematuria and a persistently low C3 level and had biopsy findings of C3GN, with the presence of a C3 gene mutation: a frameshift mutation associated with C3 deficiency. However, the patient did not exhibit any other symptoms of complement deficiency. Direct DNA sequencing of his family members revealed the same genetic mutation in his father and older brother. This case report is significant because there are very few such reports worldwide concerning gene mutations related to C3 deficiency to be discovered in patients with C3GN. Explaining C3GN pathogenesis is challenging; therefore, additional research is required in the future.

The diagnostic value of endomyocardial biopsy in the era of precision medicine: data from over 8,000 patients with comprehensive biopsy diagnostics

Abstract Background Endomyocardial biopsy (EMB) is an important diagnostic tool for evaluating various cardiac diseases such as myocarditis and storage disorders as well as for the monitoring heart transplant patients. Despite advances in non-invasive imaging techniques to characterize myocardial tissue, EMB remains the gold standard for definitive diagnosis and initiation of specific therapy. Here we report EMB laboratory results from over 8,000 patients and demonstrate the diagnostic utility of EMB. Methods and results We retrospectively reviewed EMB analyses performed at our institution. EMBs for monitoring graft rejection were not included in this study. Clinical data, suspected clinical diagnoses and EMB-based laboratory results were collected. Histopathological, immunohistochemical and molecular biology biopsy findings were recorded and reviewed for degree of concordance with clinical diagnosis. In total, EMBs from N=8,085 consecutive patients with unexplained heart failure were analyzed. The comprehensive EMB analysis revealed that N=616 (7.6%) patients had cardiac storage disease, most of whom had cardiac amyloidosis (N=606). N=357 (4.4%) patients were diagnosed with acute forms of myocarditis, including N=95 cases with active myocarditis, N=148 cases with giant cell myocarditis, N=95 cases with sarcoidosis and N=19 cases with eosinophilic myocarditis. A total of N=3,392 (42%) patients were found to have inflammatory heart disease such as inflammatory cardiomyopathy and borderline myocarditis, whereby a differentiation of the inflammatory infiltrates revealed considerable differences in the quality of inflammation. Viral genomes were found in the myocardium of N=6,072 (75%) patients, with treatment-relevant viral infections detected in N=2,015 (25%) cases. The remaining N=1,705 (21%) patients were diagnosed with other cardiomyopathies, including dilated cardiomyopathy (N=1,252), heart failure with preserved ejection fraction (N=325), hypertrophic cardiomyopathy (N=117) and arrhythmogenic right ventricular cardiomyopathy (N=11). Conclusions This retrospective study of over 8,000 patients with heart failure clearly shows that a definitive diagnosis is only possible with a comprehensive EMB diagnosis and leads to specific therapy in 79% of the cases. In the remaining 21% of patients, infectious and inflammatory causes could be excluded in order to initiate standard heart failure therapy. It is important to emphasize here that the quality of the inflammation and therapy-relevant viral infections cannot be detected with imaging techniques, which underlines the clinical-therapeutic importance of endomyocardial biopsy.

Routine application of cardiac magnetic resonance imaging in patients with suspected myocarditis from immune checkpoint inhibitor therapy

Abstract Background Cardiovascular adverse events including myocarditis associated with immune checkpoint inhibitor (ICI) therapy remain a challenge in clinical practice. Diagnostic assessment of ICI-related myocarditis (ICI-M) is challenging due to a variable phenotype, confounding effects and limited sensitivity of diagnostic tools. Cardiac magnetic resonance imaging (CMR) is used to diagnose non-ICI myocarditis, but evidence on diagnostic sensitivity is low, particularly in patients with a discrete phenotype. Here, we aim to assess the impact of CMR in patients with suspected ICI-related myocarditis and relate to final diagnosis including endomyocardial biopsy findings. Methods All consecutive patients receiving CMR for suspected ICI-M between September 2019 and January 2024 were included and retrospectively analysed. CMR parameters were correlated with clinical, laboratory and echocardiographic parameters and stratified for presence or absence of myocarditis as per final diagnosis. Results A total of 55 patients who received CMR for suspected ICI-related myocarditis were analysed, including 25 patients with confirmed ICI-M as per final diagnosis and 30 patients with cardiotoxicity other than myocarditis or no cardiotoxicity (ICI-O). The mean age (ICI-M versus ICI-O) was 65.7±13.6 versus (vs.) 67.3±9.9 (p=0.61) years, 32.0% vs. 26.7% (p=0.67) were female, and 40.0% vs. 26.7% (p=0.29) had pre-existing coronary heart disease. Cardiac biomarkers and echocardiographic data did not differ between the groups. In CMR analysis, presence of late gadolinium enhancement (LGE) was associated with ICI-M (56.0% vs. 26.7%, p=0.027). Myocardial oedema was generally rare and not associated with ICI-M. Endomyocardial biopsy (EMB) was used in 6 out of 55 patients (10.9%) with suspected ICI-M. In 4 of these 6 patients (66.7%) EMB confirmed ICI-M diagnosis. Of note, only 2/4 patients with EMB-confirmed myocarditis showed abnormal CMR findings. Conclusion The diagnostic assessment of ICI-M is challenged by low sensitivity of common diagnostic measures, often requiring a multimodal approach. Presence of LGE in CMR was associated with ICI-M, but sensitivity and specificity are low. Our data emphasize the high value of EMB in patients with clinically suspected ICI-M despite inconspicuous CMR. Prospective data to improve diagnostic criteria are needed.

Rare presentations of glioblastoma multiforme in the septum pellucidum: illustrative case.

Glioblastoma multiforme (GBM), a high-grade primary brain tumor, presents a formidable challenge in neuro-oncology because of its aggressive nature, infiltrative growth, and limited response to treatment. The septum pellucidum represents an uncommon and unexpected location for GBM, adding complexity to the diagnosis and management of this rare intracranial malignancy. A 69-year-old male with a previous history of prostate carcinoma presented to an outside hospital with a 2-week history of a "trance-like state" and cognitive decline. Initial head computed tomography showed prominent ventricles without distinct mass lesions. Upon admission, magnetic resonance imaging demonstrated a mass within the inferior septum pellucidum extending to the third and both lateral ventricles. Biopsy findings indicated a GBM, World Health Organization central nervous system tumor grade 4, with immunopositivity for glial fibrillary acidic protein and a Ki-67 labeling index of 60%-70%. Identifying only 5 cases in more than 60 years of literature, this systematic review illustrates the diverse clinical presentations, diagnostic advancements, and management approaches for septum pellucidum GBM. https://thejns.org/doi/10.3171/CASE23770.