Diagnostic Accuracy of the Second Edition of the Paris System for Reporting High-Grade Urothelial Carcinoma in Urinary Cytology.

Background Urinary cytology, a non-invasive screening tool, is essential for detecting high-grade urothelial neoplasms. The Paris System (TPS) standardizes reporting practices to improve diagnostic accuracy. TPS 2.0, introduced in 2022, categorizes samples into six diagnostic groups, emphasizing high-grade urothelial carcinoma (HGUC). Materials and Methods This retrospective study analyzed urine cytology samples from June 2023 to May 2024, correlating with histopathology when available. Samples were classified under TPS 2.0 categories, and statistical metrics including sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for three groups based on malignancy criteria. Results Out of 180 samples, the distribution was: ND (3.9%), NHGUC (65.6%), AUC (10%), SHGUC (11.7%), and HGUC (8.9%). Histopathological correlation was available for 30.6% of cases. ROM values were: ND (33.3%), NHGUC (29.4%), AUC (66.7%), SHGUC (94.1%), and HGUC (100%). Group A showed the highest sensitivity (86.49%) and diagnostic accuracy (84.62%), while Group C had 100% specificity and PPV. Conclusion The study confirms TPS 2.0's efficacy in improving diagnostic accuracy for HGUC, with high specificity and sensitivity. Compared to TPS 1.0, TPS 2.0 offers clearer diagnostic criteria, enhancing clinical decision-making and patient outcomes. The findings support the continued use of TPS 2.0 in clinical practice, ensuring reliable identification of high-grade urothelial carcinomas.

Understanding the spectrum of HER2 status in breast cancer: From HER2-positive to ultra-low HER2.

HER2 (human epidermal growth factor receptor 2) status in breast cancer spans a spectrum from HER2-positive to ultra-low HER2, each category influencing prognosis and treatment decisions differently. Approximately 20 % of breast cancers overexpress HER2, correlating with aggressive disease and poorer outcomes without targeted therapy. HER2 status is determined through immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH), guiding therapeutic strategies. HER2-positive breast cancer exhibits HER2 protein overexpression or gene amplification, benefiting from HER2-targeted therapies like trastuzumab and pertuzumab. In contrast, HER2-negative breast cancer lacks HER2 overexpression and amplification, treated based on hormone receptor status. HER2-low breast cancer represents a newly recognized category with low HER2 expression, potentially benefiting from evolving therapies. Ultra-low HER2 cancers, characterized by minimal expression without gene amplification, challenge conventional classifications and treatment paradigms. Their distinct molecular profiles and clinical behaviors suggest unique therapeutic approaches. Recent diagnostic guideline updates refine HER2 assessment, enhancing precision in identifying patients for targeted therapies. Challenges remain in accurately classifying HER2-low tumors and optimizing treatment efficacy, necessitating ongoing research and innovative diagnostic methods. Understanding the heterogeneity and evolving landscape of HER2 status in breast cancer is crucial for advancing personalized treatment strategies and improving patient outcomes.

Clinical and histopathological spectrum of congenital pulmonary airway malformations: A case series.

BACKGROUND: Congenital pulmonary airway malformations (CPAM) are a spectrum of cystic and non-cystic anomalies arising from abnormal airway development in utero, with an incidence of 1 in 25,000 to 35,000 births. CPAM can present prenatally or postnatally with respiratory distress, recurrent infections, or occasionally as an incidental finding. This case series aims to highlight the clinical, radiological, and histopathological characteristics of CPAM through three pediatric cases, which include types 1, 2, and 3 CPAM. CASE PRESENTATION: Case 1: A four-month-old male presented with cough, cold, and respiratory distress. Imaging revealed hypoattenuation and overinflation of the left upper lobe with mediastinal shift. Left upper lobectomy confirmed CPAM type 2. Case 2: A one-month-old female presented with recurrent respiratory distress and infections. Imaging showed a large cystic lesion in the right middle lobe. Right middle lobectomy confirmed CPAM type 3. Case 3: A two-month-old male presented with dyspnea. Imaging showed a large bullae in the right chest with mediastinal shift. Right upper lobectomy confirmed CPAM type 1. CLINICAL DISCUSSION: CPAM is a rare congenital lung malformation characterized by abnormal bronchial development and localized glandular overgrowth. Management involves surgical resection, with the timing of surgery dependent on symptomatology. Early identification and intervention are crucial for preventing complications such as pulmonary hypoplasia and recurrent infections. Histopathological examination post-resection is essential for accurate classification and management of CPAM. CONCLUSION: This case series provides valuable insights into the clinical, radiological, and histopathological features of CPAM, including the types encountered in each case. It underscores the importance of early diagnosis and timely surgical intervention, advocating for routine prenatal and postnatal screenings to effectively identify and manage CPAM.

Comparison of the modified Masood's scoring index versus international academy of cytology Yokohama system in the categorization of breast fine needle aspirates.

CONTEXT: The Modified Masood Scoring Index (MMSI) categorizes breast fine needle aspirates into four categories non-proliferative breast diseases (PBD), PBD without atypia, PBD with atypia and carcinoma in situ/carcinoma. The International Academy of Cytology Yokohama System classifies the aspirates into five categories - inadequate, benign, atypical, suspicious, and malignant. Very few studies have been conducted so far to compare the diagnostic accuracy of this system. AIMS: The objectives of the study were to classify breast fine needle aspirates according to the MMSI and IAC Yokohama and assess their risk of malignancy (ROM) and performance parameters. MATERIALS AND METHODS: All breast FNAs received from June 2020 to May 2023 were classified according to the MMSI and IAC Yokohama. Using histopathological diagnosis as the gold standard, ROM and performance parameters were calculated. RESULTS: Out of the 559 breast fine needle aspirates, the histopathological correlation was available for 337 cases. The ROM for non-PBD, PBD without atypia, PBD with atypia and carcinoma in situ/carcinoma categories were 0%, 1.2%, 9.1% and 93%, respectively. The ROM for each of the categories of Yokohama system was 16.6%, 1.1%, 4.3%, 86.2% and 97.6%, respectively. The values for the sensitivity, specificity, PPV, NPV and diagnostic accuracy were slightly higher for IAC Yokohama (97.3%, 97.2%, 94.7%, 98.6% and 97.2%, respectively) than the MMSI (96.4%, 96.2%, 93%, 98.1% and 96.3%, respectively). Furthermore, another shortfall of MMSI is the inability to compare the Inadequate category of the Yokohama system. CONCLUSION: Overall Yokohama system proved to be a better system for categorizing breast lesions on FNAB as the scoring system provides more objective categorization and minimizes false positive and false negative cases.

A rare Encounter with Pediatric Malignant Peripheral Nerve Sheath Tumor in Nasal Sinuses and Orbit.

This case report explores a rare and aggressive Malignant Peripheral Nerve Sheath Tumor (MPNST) in a 7-year-old child affecting nasal sinuses, maxilla, and orbit, an exceptionally uncommon pediatric manifestation unrelated to Neurofibromatosis 1. The child presented with alarming symptoms-nasal obstruction, snoring, epistaxis, and difficulty swallowing-underscoring the case's urgency. Non-contrast computed tomography revealed an extensive mass infiltrating nasopharynx, nasal cavity, maxillary sinus, ethmoid sinuses, and orbit, causing destructive consequences. Histopathology confirmed a high-grade MPNST, marked by rapid growth and early metastasis, highlighting management challenges. The rarity of pediatric MPNST in the nasal cavity is discussed, emphasizing the need for a broad differential diagnosis. Treatment involves surgical resection and adjuvant chemoradiation with a grim prognosis due to diagnostic complexities and morphological mimicry in young patients.

Unravelling the enigma: A rare case of primary gastric squamous cell carcinoma with aggressive metastasis.

This report details a rare case of squamous cell carcinoma (SCC) in the stomach, a condition accounting for only a fraction of gastric carcinomas. A 46-year-old male patient with dysphagia, abdominal pain, and haematemesis was diagnosed with primary gastric SCC displaying aggressive metastasis, an exceptionally low-incidence condition affecting mainly males in their sixth decade of life. Primary gastric SCC, though clinically similar to adenocarcinoma, involves a bleaker prognosis, lacking standardized treatment protocols. Histopathology and imaging confirmed the diagnosis, highlighting the challenges in managing advanced cases. Palliative chemotherapy showed partial remission but led to severe neuropathy. The case underscores the urgent need for research to understand the pathogenesis, effective management, and therapeutic targets for primary gastric SCC, emphasizing its scarcity and poor prognosis in medical literature. Increased clinical awareness and ongoing research are crucial for improving outcomes in such rare presentations.

Isolated tubercular cholecystitis: A rare diagnostic challenge.

Abdominal tuberculosis, particularly affecting the hepatobiliary system, presents a diagnostic challenge due to its rarity and its tendency to mimic neoplastic conditions. Tuberculosis of the gallbladder, especially in the absence of pulmonary infection, is exceedingly rare. We present a case of isolated tubercular cholecystitis in a 41-year-old female initially suspected to have neoplastic etiology. Radiological imaging revealed thickened gallbladder wall with heterogenous enhancement extending into the subcutaneous plane. Histopathological examination post-cholecystectomy confirmed tubercular etiology with epithelioid cell granulomas and focal necrosis, alongside the presence of acid-fast bacilli. Such cases pose diagnostic dilemmas due to overlapping clinical and radiological features with gallbladder carcinoma. This report emphasizes the importance of considering tuberculosis in differentials, particularly in endemic regions like India, even without pulmonary symptoms. Treatment involves postoperative administration of anti-tubercular drugs, with the preoperative diagnosis being challenging and rarely achieved due to the avoidance of invasive procedures like fine needle aspiration in suspected carcinoma cases. The rarity of isolated gallbladder tuberculosis underscores the necessity for comprehensive diagnostic evaluations and awareness among clinicians in endemic regions.

Intracranial solitary fibrous tumors: Clinical, radiological, and histopathological insights along with review of literature.

BACKGROUND: Intracranial solitary fibrous tumors (SFTs) are rare mesenchymal neoplasms, often challenging to diagnose due to their resemblance to meningiomas and other central nervous system tumors. While advancements in molecular genetics have aided in classification, diagnostic nuances and optimal management strategies remain areas of interest. MATERIALS AND METHODS: This retrospective study analyzed 11 cases of intracranial SFTs treated at a neurosurgical centre in India between February 2020 and January 2024. Clinical data, radiological findings, histopathological features, and follow-up details were reviewed. Immunohistochemistry, particularly STAT6, facilitated diagnosis confirmation. RESULTS: The median age of presentation was 32 years, with a male predominance. Headache was the most common presenting symptom, often leading to misdiagnosis as meningiomas on radiological imaging. Histologically, SFTs exhibited spindle to ovoid cells with staghorn vessels and collagenized stroma, posing challenges in differential diagnosis. WHO grading predominantly revealed grade 1 tumors, though recurrence occurred, emphasizing the importance of long-term follow-up. Immunohistochemistry, particularly STAT6, played a pivotal role in distinguishing SFTs from other entities. CONCLUSION: Intracranial SFTs present diagnostic challenges due to overlapping features with other tumors, warranting a comprehensive approach integrating clinical, radiological, and histopathological findings. Immunohistochemistry, particularly STAT6, emerges as a valuable diagnostic tool. Long-term follow-up is essential for monitoring recurrence and potential malignant transformation. Further research is needed to delineate optimal treatment strategies, including the role of radiotherapy in SFT management.

Association of tumor budding and tumor infiltrating lymphocytes with clinicopathological parameters in gallbladder carcinoma.

PURPOSE: Gallbladder carcinoma (GBC) poses significant challenges in oncology due to its aggressive nature and limited treatment options. The lack of effective biomarkers for early detection and prognosis exacerbates the prognosis for GBC patients. Tumor budding (TB) and tumor infiltrating lymphocytes (TILs) have emerged as potential prognostic indicators in various cancers, reflecting tumor-host immune interactions and tumor aggressiveness. The study of TB and TILs in GBC is particularly important due to the limited literature available. METHODS: This retrospective observational study aimed to evaluate the association of TB and TILs with clinicopathological parameters in GBC patients. Clinicopathological data were collected from patients with histologically confirmed GBC who underwent surgical resection. The sections were evaluated for TB and TILs using standardized methods. Statistical analysis was performed to assess associations between these parameters and clinicopathological variables. RESULTS: Tumor stage and grade showed significant associations with TB and TILs, indicating their potential as prognostic markers. High TB correlated with advanced tumor stage and higher grade, while high TIL infiltration was associated with early tumor stage and lower grade. Additionally, TILs exhibited a significant association with lymphovascular invasion. Interestingly, an inverse association was observed between TB and TILs, highlighting the dynamic interplay between tumor aggressiveness and host immune response. CONCLUSION: TB and TILs hold prognostic significance in GBC, offering insights into its pathogenesis and potential therapeutic targets. Future research exploring the mechanistic underpinnings of tumor-host immune interactions in GBC is crucial for translating these findings into clinical applications and improving outcomes for patients.

Unveiling the Rarity: A Case Report on Solitary Fibrous Tumor of the Thyroid Gland.

Solitary Fibrous Tumor (SFT) rarely manifests within the thyroid gland, an organ predominantly associated with epithelial carcinomas. This case report explores the clinical narrative of a 70-year-old patient presenting with a sizable SFT localized in the left lobe of the thyroid, posing diagnostic challenges uncommon in thyroid nodules. The report delves into the clinical history, radiological findings, pathological assessments, and therapeutic interventions, contributing to the limited literature on thyroidal SFTs. The patient's ultrasound revealed a substantial thyroid mass causing tracheal and vascular displacement, categorized as TIRADS 3. Fine needle aspiration indicated mesenchymal origin, prompting further investigation. Contrast-enhanced computed tomography depicted a well-defined lesion with varied enhancement, compressing surrounding structures. Histopathology confirmed a spindle cell proliferation, prompting immunohistochemistry revealing CD34, STAT6, and Bcl-2 positivity, aligning with SFT characteristics. The rarity of thyroidal SFTs poses diagnostic challenges, necessitating reliance on immunohistochemistry for accurate differentiation from other spindle cell neoplasms. Radiological investigations, including ultrasound and magnetic resonance imaging, contribute to preoperative planning. The case underscores the importance of meticulous pathological examination, emphasizing the utility of immunohistochemistry in confirming SFT diagnosis. The report enhances understanding among clinicians, pathologists, and researchers, guiding improved diagnostic accuracy and tailored treatment strategies for future occurrences of thyroidal SFTs.

Assessment of stromal tumor-infiltrating lymphocytes in neoadjuvant chemotherapy for invasive breast carcinoma: Predictive insights across molecular subtypes.

BACKGROUND AND AIMS: Breast cancer, a leading cause of female mortality, has prompted the widespread adoption of Neoadjuvant chemotherapy (NAC) for its potential to minimize metastasis risk and downstaging tumors. Tumor Infiltrating Lymphocytes (TILs) have emerged as key immunological biomarkers, particularly in breast cancer research. This study focuses on evaluating Stromal TILs (sTILs) in pre-NAC core needle biopsies of Invasive Breast Carcinoma, No Special Type (IBC, NST) and correlating it with NAC response. MATERIALS AND METHODS: A retrospective study spanning three years (October 2020 to September 2023) was conducted in a tertiary care hospital, involving 73 patients meeting specific inclusion criteria. Pathological assessments, including hormone receptor status, molecular subtyping, and TILs evaluation, were performed. Logistic regression and statistical analyses were conducted to determine associations between TILs, clinicopathological parameters, and complete response. RESULTS: The study demonstrated excellent discriminatory power of TILs (>10 %) in predicting complete response. Univariate and multivariate logistic regression underscored the independent predictive value of TILs, emphasizing their significance across diverse molecular subtypes. CONCLUSION: This study provides crucial insights into immune response assessment, particularly sTILs, in optimizing breast cancer treatment strategies and patient outcomes during NAC, contributing to the evolving landscape of personalized emphasising oncology.

BCOR Positive Central Nervous System Neuroepithelial Tumor Masquerading as a Meningioma.

The central nervous system tumor with BCL-6 interacting corepressor internal tandem duplication (BCOR-ITD) is a molecularly defined entity with an internal tandem duplication in exon 15 of the BCOR gene. It is histologically characterized by a solid pattern with spindle-shaped cells and a dense capillary network. Very few cases of this rare entity have been reported till date. We present a case of BCOR-positive CNS tumor in a 3-year-old child who presented with scalp swelling. A differential diagnosis of CNS tumor with BCOR expression should be considered whenever high-grade tumors with histopathological features of glial or ependymal tumors do not express the classical glial markers.

Cytomorphological Insights into Embryonal Rhabdomyosarcoma: A Rare Case in the Middle Ear.

INTRODUCTION: Rhabdomyosarcoma, though rare in the middle ear, necessitates prompt recognition for optimal management. They are malignant mesenchymal neoplasms arising from the embryonic mesenchymal cells of striated skeletal muscles. CASE PRESENTATION: We present a case of a 5-year-old child with massive right mastoid swelling and bloody ear discharge. Cytological examination via fine needle aspiration biopsy revealed features suggestive of a malignant mesenchymal tumor, confirmed on imaging and subsequent histopathology as embryonal rhabdomyosarcoma (ERMS) FNCLCC grade 2. Characteristic cytological findings included spindle-shaped cells in a myxoid stroma with tigroid background, aiding in early diagnosis. Despite radical mastoidectomy and adjuvant chemotherapy, ERMS in the middle ear remains challenging due to its aggressive nature and potential complications. CONCLUSION: This case underscores the importance of cytological evaluation in identifying rare soft tissue tumors like ERMS, facilitating timely intervention and improved outcomes. Early recognition and multidisciplinary management are crucial in addressing the complexities of ERMS in uncommon sites like the middle ear.

Pleomorphic Lipoma of the Parotid Gland: A Potential Cytological Pitfall.

Pleomorphic lipoma is an uncommon benign adipocytic tumor that arises from the subcutis. It has no risk of recurrence, metastasis or malignant transformation. The cytological findings of pleomorphic lipoma are often overdiagnosed as suspicious of malignancy owing to the pleomorphic morphology of the floret giant cells. We present a rare case of pleomorphic lipoma of the parotid gland which was misdiagnosed as a malignant tumor on fine needle aspiration cytology. Histopathological examination and positive expression for CD34 helped to arrive at the final diagnosis. Awareness about this rare entity will prevent overdiagnosis as a malignant tumor and unnecessary radical resections for this benign tumor.

Intraparotid plexiform neurofibroma: A rare diagnostic challenge.

Isolated intraparotid neurofibromas are exceptionally rare and often associated with neurofibromatosis type 1 (NF1). Diagnosing these tumors proves challenging because of the clinical resemblance to primary salivary gland masses. This case report details an 18-year-old with a painful, enlarging parotid mass, diagnosed through fine needle aspiration biopsy (FNAB) revealing myxoid stroma and spindle cells. Magnetic resonance imaging confirmed a plexiform neurofibroma involving the parotid gland and facial nerve. Histopathology validated the diagnosis, emphasizing the importance of cytological and radiological correlation. Notably, the absent NF1 association makes this case unique. Surgical excision with facial nerve reconstruction was performed, highlighting the complexity of managing such rare intraparotid neurofibromas. Awareness of this entity is crucial for accurate diagnosis and appropriate management.

Desmoplastic Melanoma of the Chest Wall: a Diagnostic Dilemma.

Desmoplastic melanoma is an extremely rare subtype of malignant melanoma comprising only 1% of all the cutaneous melanomas. Being amelanotic and owing to its histopathological features of spindle cells lying in a collagenized stroma, it is often misdiagnosed as a dermatofibroma or scar tissue. The present case study describes a case of desmoplastic melanoma of the chest wall where the final diagnosis could be arrived at only after an extensive immunohistochemical panel to exclude other spindle cell proliferations.

Epithelioid Hemangioma of the Nasal Cavity: a Diagnostic Challenge.

Epithelioid hemangioma also known as angio-lymphoid hyperplasia with eosinophilia is a rare benign vascular neoplasm of unknown etiology. It very rarely involves the nasal cavity. It always poses a diagnostic challenge for clinicians and is usually misdiagnosed as Kimura's, IgG4-related disease, or malignant vascular tumors. The present case report describes an extremely rare presentation of epithelioid hemangioma inside the left nasal cavity causing complete obstruction and nasal septal deviation towards the right side in a young male. Hematoxylin and eosin-stained sections depicted a lobular proliferation of small capillary-sized vessels lined by plump epithelioid endothelial cells surrounding central vessels and scattered around them. These cells had abundant eosinophilic to amphophilic cytoplasm and enlarged nuclei with fine chromatin and central nucleoli. On immunohistochemistry, CD34 and CD31 highlighted the vascular proliferation and epithelioid endothelial cells. Erythroblast transformation-specific (ETS)-related gene (ERG) showed strong nuclear positivity in neoplastic plump epithelioid endothelial cells. EH is a benign vascular proliferation, but a high chance of recurrence is seen if complete resection is not done. As a result, the treatment of choice is complete surgical excision with clear margins. The case highlights a non-conventional presentation of epithelioid hemangioma and the importance of histomorphological features in diagnosing this entity.

Germ Cell Tumor Presenting as a Mesenteric Cyst: a Case Report and Literature Review.

Mesenteric cysts, typically benign and asymptomatic, are incidental findings during abdominal investigations for nonspecific symptoms. Their origin is commonly in the mesentery of the small bowel, mesocolon, or retroperitoneum. This paper reports a rare case of a 22-year-old male with a mesenteric cyst presenting as a right lower abdominal mass. Ultrasonography revealed a heterogenous collection, leading to surgical excision. Histopathology unexpectedly revealed an extragonadal yolk sac tumor (YST) originating in the mesentery, a rarity often misdiagnosed as a cyst. YST, primarily found in gonads, is infrequently reported extragonadally. This study contributes to the limited literature on primary peritoneal YST, discussing clinicopathological parameters and presenting a detailed case. The pathogenesis of extragonadal germ cell tumors, including YST, remains debated, with migration and stagnation of germ cells during embryonic development proposed as a prevalent theory. Histopathological examination of extragonadal YST mirrors gonadal YST, featuring various patterns. Immunohistochemistry, crucial for diagnosis, reveals positive expression for SALL-4, glypican-3, PLAP, AFP, and panCK. SALL-4 emerges as the most sensitive marker for extragonadal YST. This case underscores the importance of accurate postoperative histopathology and immunohistochemistry in distinguishing mesenteric YST from cysts, as misdiagnosis can impact prognosis. The rarity of extragonadal YST emphasizes the need for comprehensive understanding and recognition in clinical practice. The study contributes valuable insights into diagnosis and management, shedding light on a challenging aspect of surgical pathology.

Intrapulmonary Ancient Schwannoma: a Rare Tumour.

Schwannomas are benign encapsulated neoplasms which arise from Schwann cells of the neural sheath. Ancient schwannoma is a rare variant of schwannoma which is often misdiagnosed as a malignant neoplasm owing to degenerative changes. They are known to show degenerative nuclear atypia, cystic degeneration, hyalinization, myxoid change and haemorrhage. We present a rare case of an intrapulmonary ancient schwannoma in a 34-year-old female patient.

Synchronous ipsilateral adrenal cortical adenoma and ganglioneuroma: A case report.

Synchronous tumors comprising of cortical as well as medullary differentiation are rare in the adrenal gland. Collision tumors comprise of two independent neoplasms arising from the cortex and the medulla without any histological admixture. Adrenal cortico-medullary mixed tumors are rare tumors comprising of adrenal cortical and chromaffin cells intermixed with each other. Ganglioneuroma is a rare benign tumor originating from the paravertebral sympathetic ganglia and is rarely seen in the adrenal medulla. The presence of a synchronous ganglioneuroma with an adrenal cortical adenoma in the ipsilateral adrenal gland is exceedingly rare. We report a collision tumor comprising of an adrenal cortical adenoma and a ganglioneuroma detected as an incidental finding in a pediatric patient who presented with hypertension and palpitations.