Diagnostic Pitfalls Research Articles

Unveiling The Diagnostic Pitfall: Complete Heart Block Presenting in Acute Coronary Syndromes Without Chest Pain and Non-Ischemic Electrocardiography in A Young Adult

Background: The majority of studies indicate that the asymptomatic or atypical presentation of acute coronary syndrome (ACS) as a significant manifestation of coronary artery disease (CAD) is associated with a poor prognosis. The purpose of this study was to characterize the clinical characteristics and management of ACS patients who presented without chest pain and non-ischemic electrocardiogram (ECG). Case Illustration: A 31 years old man with syncope was brought to our hospital. ECG revealed total AV block (TAVB) without ST segment changes. First, he was diagnosed with cardiac syncope because his ECG showed no ischemic sign. He had a strong familial history of CAD, so we examined his cardiac enzymes and found an increase in serial cardiac enzymes. Then, he was diagnosed with non-ST elevation myocardial infarction (NSTEMI). Early invasive strategy with chronic total occlusion (CTO) at osteal right coronary artery (RCA) and acute total occlusion at mid RCA with implantation of 1 DES at osteal-proximal RCA was selected for this patient. After five days of hospitalization, he discharged home with medicines. Conclusion: In order to significantly lower their morbidity and mortality, this group of high-risk patients needs to receive improved early diagnostic and treatment choices. Keyword: Acute Coronary Syndrome, Chest Pain, Heart Block.

Gastric adenocarcinoma mimicking a submucosal tumor- a diagnostic pitfall in the pediatric population: report of two cases

Pediatric gastric adenocarcinoma (GAC) is sporadic with limited relevant data, and gastric adenocarcinoma, which presents as submucosal, has seldom been reported. The clinical presentation and outcome have not yet been thoroughly understood. Two boys (10 and 14-year-old) were admitted to the hospital with severe malnutrition. Abdominal CT demonstrated the tumor protruding into the stomach, irregular border, and peritoneal metastasis. Gastric biopsies showed pleomorphic cells, variable size, and increased N/C ratio. These cells were arranged into sheet growth patterns, clusters of cells or incomplete tubules with neutrophils infiltrating. The malignant cells showed strong expression of CK, negativity for CD99, NSE, myogenin, CD3, CD20, ALK, and CD30. Both cases were consistent with poorly differentiated gastric adenocarcinomas, diffuse type with lymphovascular invasion. Pediatric GAC presented with a more advanced stage and poor differentiation. However, the clinical presentation is similar to adult GAC. Because of data limitations, the diagnosis and treatment of pediatric GAC remain a significant challenge. GAC should be kept in mind, especially when a submucosal tumor-like lesion appears in the stomach. Additional molecular investigations, including E-cadherin or HER2 testing of the tumor samples, may offer more treatment choices for these patients.

Immune thrombotic thrombocytopenic purpura in patients over 60 years of age: Diagnostic pitfalls and treatment strategy.

Real-world registry studies of older patients with iTTP highlight diagnostic difficulties in comparison to patients less than 60 years of age with greater risk of renal injury, atypical neurological features and less profound cytopenia, which can result in diagnostic delays. However, there is no clear signal of significantly increased toxicity from full active treatment. Commentary on: Gómez-Seguí et al. Immune thrombotic thrombocytopenic purpura in older patients: results from the Spanish TTP Registry (REPTT). Br J Haematol 2023;203:860-871.

Hypoglossal Nerve Palsy Misdiagnosed as Tongue Tumor: A Rare Case of Calcified Hypoglossal Schwannoma.

The authors hereby present a case of a calcified schwannoma of the hypoglossal nerve, which led to hypoglossal nerve palsy initially misinterpreted as a tongue tumor. This paper reviews the presentation of schwannoma of the hypoglossal nerve and offers a novel perspective on this rare condition. Diagnostic pitfalls and the diagnostic-therapeutic value are also discussed.

Navigating through the diagnostic minefield of clear cell sarcoma of soft tissue: Lessons from a challenging case with literature review.

Clear cell sarcoma of soft tissue (CCSST) is a rare soft tissue sarcoma occurring in young adults with a predilection for deep soft tissues of the distal extremities. Its overlapping morphology and immunohistochemical profile pose a diagnostic challenge. Herein, we present a rare case of CCSST with a unique immunohistochemical profile arising in an uncommon location. A 36-year-old male presented with a progressively increasing painful swelling in the left supraclavicular region for the last 2 months. Positron emission tomography showed FDG-avid lesions in the left supraclavicular and scapular regions. Fine needle aspiration cytology (FNAC) followed by core needle biopsy was performed. The cytology smears showed predominantly discohesive sheets of polygonal tumor cells with prominent macronucleoli in a vacuolated background. On immunocytochemistry, tumor cells showed positivity for vimentin, HMB45, and S100, confirming the diagnosis of CCSST. Histopathological examination showed sheets of similar tumor cells that were positive for vimentin, HMB45, melan A, CD38, and CD138, representing a potential diagnostic pitfall in the index case. The index report, besides highlighting the characteristic pathologic features of CCSST and its mimics, is unique due to the diffuse positivity of the tumor cells for CD38 and CD138. It is imperative to be aware of this diagnostic pitfall as it may muddle the diagnosis of CCSST.

Spiradenoma With Adenoid Cystic Carcinoma-like Changes: A Case Series of This Rare Variant With a Potential Diagnostic Pitfall.

Spiradenomas are benign cutaneous adnexal neoplasms with sweat gland differentiation that can manifest a broad spectrum of histomorphologic appearances. While they show a characteristic histopathologic phenotype and clinical management involves surgical excision with a low risk of recurrence, there have been unusual histopathologic variants of spiradenoma reported, including cases with adenoid cystic carcinoma (ACC)-like changes. Primary cutaneous ACC is a low-grade malignancy presenting as a subcutaneous mass with the potential for local invasion, perineural invasion, and high rates of local recurrence after excision. The diagnosis of spiradenomas with ACC-like features can be challenging, especially when only the ACC-like component is present for evaluation. A retrospective analysis of 21 cases of spiradenoma with ACC-like changes were obtained from large academic institutions, was performed, and summarized below. All cases showed background of conventional spiradenoma, and the ACC-like areas represented a component in all lesions. The percentage of ACC-like component ranged from 5% to 40% in all cases. The ACC-like component was multifocal and without pleomorphism, perineural and/or vascular invasion, necrosis, or increased mitotic activity. MYB translocation and protein expression was studied in 16 cases by fluorescence in situ hybridization, polymerase chain reaction, and immunohistochemistry. All studied cases were negative for MYB / NFIB , MYB L1, and MYB F by fluorescence in situ hybridization and polymerase chain reaction and 3 cases were positive for MYB expression by immunohistochemistry. Our study expands on spiradenomas with ACC-like features that ought to be considered in the differential diagnosis of cutaneous neoplasms such as primary cutaneous ACC. Our results indicate that a thorough histopathologic inspection and strict application of well-defined histologic criteria are necessary to support the diagnosis of this unusual histopathologic variant. These tumors can be difficult to diagnose, and awareness of their histomorphologic spectrum will facilitate definitive diagnosis and avoid misdiagnosis with other conditions.

Neuro-ophthalmic manifestations of autoimmune disorders: diagnostic pearls & pitfalls.

The purpose of this review is to highlight a clinical-anatomical approach to localizing neuro-ophthalmic manifestations of associated autoimmune disorders. Our understanding of autoimmune conditions has changed considerably over recent years, particularly with the emergence of novel autoantibodies. Cardinal neuro-ophthalmic signs and symptoms of antibody-mediated autoimmune disorders have been well characterized; knowledge thereof may be the first step towards an accurate diagnosis. A thorough history, further refined by a comprehensive examination are cornerstones to disease localization in clinical medicine. Taken together, these essential steps both guide investigations and facilitate early recognition of autoimmune disorders. From a neuro-ophthalmic perspective, it is important to understand heralding signs and symptoms of autoimmune syndromes, avoid cognitive errors, and remain mindful of common diagnostic pitfalls to optimize care. http://links.lww.com/COOP/A61.

Common Diagnostic Challenges and Pitfalls in Segmental Colitis Associated with Diverticulosis (SCAD).

Segmental colitis associated with diverticulosis (SCAD) is characterized by inflammation involving the sigmoid inter-diverticular mucosa, sparing the proximal colon and rectum. Due to the heterogeneity of clinical manifestations and endoscopic and histological findings, SCAD diagnosis might be challenging in clinical practice. This narrative review aimed to report the SCAD diagnostic criteria adopted in different studies, highlighting the current challenges and main pitfalls in its diagnosis. We analysed fourteen studies, mainly prospective observational studies. Haematochezia and rectal bleeding were the main complaints leading to diagnosis, followed by diarrhoea. An accurate endoscopic description was performed in 86% of studies, while a standardised biopsy sampling protocol (sigma, proximal colon and rectum) was scarcely adopted, being complete only in 28.5% of studies. The evaluation of concomitant drugs potentially inducing colitis was carried out in only 57% of studies. Great heterogeneity in sigmoid endoscopic (edema, erythema, erosions, ulcers, mucosal friability) and histological findings (chronic and/or acute inflammatory infiltrate) was observed. We showed that SCAD diagnosis is often based on not fully adequate macroscopic colonic description and scant biopsy protocol sampling. An accurate clinical and endoscopic evaluation, with an adequate sampling biopsy protocol, with attention to differential diagnosis, seemed to be crucial for a prompt SCAD diagnosis.

Diagnosis, Progress, and Treatment Update of Kawasaki Disease.

Kawasaki disease (KD) is an acute inflammatory disorder that primarily affects children and can lead to coronary artery lesions (CAL) if not diagnosed and treated promptly. The original clinical criteria for diagnosing KD were reported by Dr. Tomisaku Kawasaki in 1967 and have been used for decades. However, research since then has highlighted the limitations of relying solely on these criteria, as they might lead to underdiagnosis or delayed diagnosis, potentially increasing the risk of coronary artery complications. This review appears to discuss several important aspects related to KD diagnosis and management. The current diagnostic methods for KD might need updates, especially considering cases that do not fit the typical clinical criteria. Recognizing diagnostic pitfalls and distinguishing KD from other conditions that might have similar clinical presentations is essential. The differences and similarities between KD and Multisystem Inflammatory Syndrome in Children (MIS-C), another inflammatory condition that has been associated with COVID-19, were also reviewed. The review explores the potential role of eosinophil count, new biomarkers, microRNA panels, and scoring systems in aiding the diagnosis of KD. Overall, the review article provides a comprehensive overview of the evolving landscape of KD diagnosis and management, incorporating new diagnostic methods, biomarkers, and treatment approaches to improve patient outcomes and reduce the risk of complications.

Expression of TLE1 in a Carcinoid Tumor of the Lung With Spindle Cell Morphology-A Potential Diagnostic Pitfall.

Tumors of the lung with a spindle cell morphology require consideration of many entities in the differential diagnosis, including metastases. Ancillary immunohistochemical stains but also molecular studies are typically required to arrive at the proper diagnosis. We present a case of a 71-year-old woman with multiple lung nodules, mediastinal lymphadenopathy, and a history of uterine cancer who underwent endobronchial ultrasound-guided fine needle aspiration and biopsy of the lung and mediastinal lymph nodes. A sampling of the lung lesion showed a cytologically bland neoplasm with spindle cell morphology, lacking necrosis or brisk mitotic activity. In conjunction with the cytomorphology, strong and diffuse Transducin-like enhancer of split 1 (TLE1) reactivity in the tumor cells initially raised the diagnosis of synovial sarcoma; however, subsequent results of additional testing showed strong and diffuse expression with AE1/AE3, CK 8/18, TTF-1, synaptophysin and chromogranin and focal or negative staining with a large number of other antibodies. This warranted a diagnosis of a carcinoid tumor. This is the first report of TLE1 staining in a carcinoid tumor of the lung. Therefore, when evaluating tumors of the lung with spindle cell morphology in which the differential diagnosis may include both carcinoid tumor and synovial sarcoma, TLE1 expression should be interpreted with caution and in conjunction with an expanded immunohistochemical staining panel.

Pulmonary inflammatory leiomyosarcoma represents a potential diagnostic pitfall of DNA methylation-based classification of sarcomas: a case report

BackgroundPulmonary inflammatory leiomyosarcoma (PILMS) is a rare type of myogenic tumor with prominent lymphohistiocytic infiltration. Despite their histological similarities, PILMS is immunohistochemically and genetically distinct from soft tissue inflammatory leiomyosarcoma, and its clinicopathological picture including DNA methylome data remains still unknown.Case presentationHere we present a case of PILMS in an 18-year-old male who underwent lobectomy. As reported previously, the current case demonstrated spindle myoid cell proliferation with smooth muscle differentiation within a prominent lymphohistiocytic infiltration and a diploid genome with a MUC3A gene alteration. DNA methylation analysis predicted this case to be an “inflammatory myofibroblastic tumor” (IMT) according to the Deutsches Krebsforschungszentrum (DKFZ) classifier. The data was analyzed by t-distributed stochastic neighbor embedding, which plotted the case tumor in the vicinity of IMT, however, there were no IMT histological features. These discordant results could be due to background non-neoplastic inflammatory cells.ConclusionsAs the DNA methylation classification of PILMS might be a potential diagnostic pitfall, an integrative histological and genetic approach is required for its accurate diagnosis.

Catheter-induced right bundle branch block: Practical implications for the cardiac electrophysiologist.

The right bundle branch (RBB), due to its endocardial course, is susceptible to traumatic block caused by "bumping" during right-heart catheterization. In the era of cardiac electrophysiology, catheter-induced RBB block (CI-RBBB) has become a common phenomenon observed during electrophysiological studies and catheter ablation procedures. While typically transient, it may persist for the entire procedure time. Compared to pre-existing RBBB, the transient nature of CI-RBBB allows for comparative analysis relative to the baseline rhythm. Furthermore, unlike functional RBBB, it occurs at similar heart rates, making the comparison of conduction intervals more reliable. While CI-RBBB can provide valuable diagnostic information in various conditions, it is often overlooked by cardiac electrophysiologists. Though it is usually a benign and self-limiting conduction defect, it may occasionally lead to diagnostic difficulties, pitfalls, or undesired consequences. Avoidance of CI-RBBB is advised in the presence of baseline complete left bundle branch block and when approaching arrhythmic substrates linked to the right His-Purkinje-System, such as fasciculo-ventricular pathways, bundle branch reentry, and right-Purkinje focal ventricular arrhythmias. This article aims to provide a comprehensive practical review of the electrophysiological phenomena related to CI-RBBB and its impact on the intrinsic conduction system and various arrhythmic substrates.

Epithelioid extragastrointestinal stromal tumor in the pelvic cavity: A rare case at a rare location

ABSTRACT Extraintestinal gastrointestinal stromal tumors (EGISTs) are rare stromal tumors involving mesentery, omentum, and retroperitoneum. EGISTs of the pelvic cavity are extremely uncommon, and till date, no case of pure epithelioid type arising from the pelvic cavity has been reported. They pose a diagnostic pitfall as they may mimic ovarian malignancy. We present a unique case of an epithelioid extraintestinal stromal tumor arising from the pelvic cavity. A 43-43-year-old woman presented with complaints of abdominal pain and menstrual irregularities. Ultrasound examination revealed a large well-defined hypoechoic mass in the right pelvic cavity with a possible site of origin from the right ovary. A total hysterectomy with bilateral salpingo-oophorectomy was done. Histopathological examination revealed an encapsulated tumor comprising predominantly of nests and lobules of epithelioid cells with round-to-oval nuclei, vesicular chromatin, and moderate amount of eosinophilic to clear cytoplasm. Mitotic activity was brisk along with focal areas of necrosis. On immunohistochemistry, tumor cells were diffusely and strongly positive for DOG1 and CD117. They were negative for smooth muscle actin, vimentin, S-100, and HMB-45. Based on these findings, a final diagnosis of the high-grade GIST epithelioid variant was made. It is crucial to make the correct preoperative diagnosis of GIST, since these patients may benefit from neoadjuvant imatinib, especially in case of large tumor size.

Diagnostic pitfalls in low grade appendiceal mucinous neoplasms

Primary neoplasms of the appendix are present in less than 2% of appendicectomy specimens. Appendiceal mucinous neoplasm is a rare malignancy which is found in less than 0.3% of appendicectomy specimens and accounts for around 1% of gastrointestinal neoplasms. These have varying malignant potential and include a heterogeneous group of diseases. According to the WHO 5th edition (2019), the neoplastic spectrum of appendiceal mucinous neoplasms comprise of low-grade appendiceal mucinous neoplasms (LAMNs), high grade appendiceal mucinous neoplasms (HAMNs), and mucinous adenocarcinoma of the appendix. The patients with mucinous appendiceal lesions are frequently operated for symptoms resembling acute appendicitis as they lack specific clinical and imaging presentation. Categorisation of these neoplasms with attention to extent of mucin and neoplastic cells is crucial to stage the disease as well as to assess the risk of pseudomyxoma peritonei (PMP), a life threatening complication with poor prognosis. We present 8 LAMNs including a rare case of synchronous mucinous cystadenoma of ovary and LAMNs. We discuss the different clinical presentations and the challenges faced in diagnosis.

Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases.

Alpha-fetoprotein (AFP) is a protein commonly found during fetal development, but its role extends beyond birth. Throughout the first year of life, AFP levels can remain high, which can potentially mask various conditions from the neurological, metabolic, hematological, endocrine, and early childhood cancer groups. Although AFP reference values and clinical utility have been established in adults, evaluating AFP levels in children during the diagnostic process, treatment, and post-treatment surveillance is still associated with numerous diagnostic pitfalls. These challenges arise from the presence of physiologically elevated AFP levels, inconsistent data obtained from different laboratory tests, and the limited population of children with oncologic diseases that have been studied. To address these issues, it is essential to establish updated reference ranges for AFP in this specific age group. A population-based study involving a statistically representative group of patients could serve as a valuable solution for this purpose.

Confocal findings of an intradermal nevus in a unique anatomical location: A diagnostic pitfall and histopathologic correlation

Confocal findings of an intradermal nevus in a unique anatomical location: A diagnostic pitfall and histopathologic correlation

An Updated Contextual Approach to Mesothelial Proliferations in Pleural Effusion Cytology Leveraging Morphology, Ancillary Studies, and Novel Biomarkers.

Pleural effusions are common cytologic specimens that can be leveraged to make diagnoses of malignancy that drive appropriate patient management. However, the overlap in morphologic features of reactive mesothelial proliferations, mesotheliomas, and adenocarcinomas can create diagnostic pitfalls in the cytologic evaluation of pleural fluids. To review the morphologic spectrum of benign and malignant mesothelial proliferations in pleural effusions, as well as relevant clinicoradiologic contexts and ancillary tests. Existing scientific and clinical literature as of January 2023. We can leverage the knowledge of several overlapping morphologic features, clinicoradiologic scenarios, and immunohistochemical studies to enhance the diagnostic accuracy of pleural effusion cytology to appropriately delineate cases of adenocarcinoma, reactive mesothelial proliferation, and mesothelioma. Earlier diagnosis through cytology, particularly in cases of mesothelioma, may positively impact patient treatment options and prognosis.

Diagnostic errors in uncommon conditions: a systematic review of case reports of diagnostic errors.

To assess the usefulness of case reports as sources for research on diagnostic errors in uncommon diseases and atypical presentations. We reviewed 563 case reports of diagnostic error. The commonality of the final diagnoses was classified based on the description in the articles, Orphanet, or epidemiological data on available references; the typicality of presentation was classified based on the description in the articles and the judgment of the physician researchers. Diagnosis Error Evaluation and Research (DEER), Reliable Diagnosis Challenges (RDC), and Generic Diagnostic Pitfalls (GDP) taxonomies were used to assess the factors contributing to diagnostic errors. Excluding three cases in that commonality could not be classified, 560 cases were classified into four categories: typical presentations of common diseases (60, 10.7 %), atypical presentations of common diseases (35, 6.2 %), typical presentations of uncommon diseases (276, 49.3 %), and atypical presentations of uncommon diseases (189, 33.8 %). The most important DEER taxonomy was "Failure/delay in considering the diagnosis" among the four categories, whereas the most important RDC and GDP taxonomies varied with the categories. Case reports can be a useful data source for research on the diagnostic errors of uncommon diseases with or without atypical presentations.

Nodular hyperplasia of lymphoglandular complexes in dogs: A potential diagnostic pitfall for rectal masses.

Lymphoglandular complexes are components of the gut-associated lymphoid tissue that are characterized by submucosal lymphoid aggregates invested by projections of mucosal epithelium. Reports of pathology involving these structures are rare in both human and veterinary literature. Here, the authors report 2 cases of rectal masses excised from dogs following a period of tenesmus and hematochezia. In both animals, the masses were composed of lymphoid tissue closely encompassing tubuloacinar structures. Immunohistochemistry and polymerase chain reaction antigen receptor rearrangement testing demonstrated that the lymphoid population was polyclonal, comprising T and B cells arranged in loosely follicular aggregates centered on the epithelial foci. In light of these findings, a diagnosis of lymphoglandular complex nodular hyperplasia was reported. To the authors' knowledge, this is the first report of this condition in dogs.

`DIAGNOSTIC PITFALLS IN THE INTERPRETATION OF EXTRANODAL LYMPHOMAS – A CASE SERIES

Extranodal non-Hodgkin’s lymphoma (ENNHL) by definition affects any organ or tissue excluding lymph node and spleen. Histopathological examination is the investigation of choice that further helps in deciding the advanced diagnostic panel of the immunohistochemistry (IHC) and molecular studies. Histopathological evaluation as such is not straight forward, since there is high probabilty of misdiagnosis and diagnostic pitfalls due to inadequate material, sampling and processing errors, inadequate clinical information, personal subjectivity of clinicians and pathologists, and IHC-related errors. This case series is reported at a tertiary care hospital. Total three cases of ENNHL are reported, where the process of diagnosis went through few pitfalls before the ultimate diagnosis was made. The first case was a jejunal mass clinically diagnosed as carcinoma, histopathologically found to be extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue transforming to diffuse large B-cell lymphoma in the mesenteric lymph node. Second case describes misinterpretation of small lymphocytic lymphoma as adenocarcinoma deposit in liver by clinical and radiological evaluation. Third case describes follicular dendritic cells of spleen where the first two biopsies showed chronic lymphocytic gastritis and reactive lymphadenitis and finally the third from spleen confirmed the diagnosis. The diagnosis of ENNHL in biopsies requires clinicopathological suspicion with discussion and repeat biopsies if inconclusive. Pathologist should be aware of the gross and microscopic features indicating high-grade NHL transformation in surgical specimens. During the initial clinical evaluation and follow-up of low-grade ENNHL, positron emission tomography scan findings can be used, to effectively target biopsy from areas or regional lymph nodes suspicious of high-grade transformation.