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Introduction Gastric carcinoma is a significant global health concern, known for its high mortality rate. HER-2 overexpression is observed in a notable proportion of gastric carcinoma and is associated with a worse prognosis. However, HER-2 expression enables targeting the protein by monoclonal antibodies that improve overall survival in HER-2-positive gastric cancers. This study aims to evaluate the HER-2 expression in gastric and gastroesophageal carcinomas. Materials and methods This observational study was conducted in the Department of Pathology, involving 60 endoscopic biopsy and resection specimens of gastric and gastroesophageal carcinomas. HER-2 expression was assessed by immunohistochemistry (IHC) based on the Trastuzumab for GAstric Cancer (ToGA) trial's scoring system. The primary outcome was HER-2 status, with statistical analysis performed to evaluate associations with various clinicopathological parameters. Results Among 60 cases, 26 (43.3%) showed HER-2 positivity. HER-2 positivity was significantly (p=0.004) associated with age, being higher in 20-39 years and ≥80 years age groups. Gender and tumor location were not significantly associated with HER-2 positivity. Moderate and poorly differentiated carcinomas exhibited higher HER-2 positivity. Histological types, tubular adenocarcinoma, and papillary adenocarcinoma showed significant (p=0.01) association with HER-2 positivity compared to other types. Conclusion HER-2 status assessment is crucial in managing gastric and gastroesophageal carcinomas. HER-2 positivity is notably higher in certain age groups and histological types particularly tubular and papillary adenocarcinoma, and in moderately to poorly differentiated carcinomas. These insights can aid in selecting appropriate gastric and gastroesophageal carcinomas that warrant HER-2 testing on IHC. Identifying gastric and gastroesophageal carcinomas that show HER2 expression may highlight potential candidates for targeted therapy.
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Glycogen storage disorders (GSDs) encompass a group of metabolic disorders resulting from deficiencies in enzymes involved in glycogen synthesis or breakdown. Among these, GSD type IX manifests due to a deficiency in phosphorylase kinase enzyme, leading to liver-specific, muscle-specific, or combined forms of the disorder. We present a case report of an exceedingly rare deletion-type mutation in the phosphorylase kinase B (PHKB) gene causing GSD type IXb, offering a comprehensive evaluation of clinical, laboratory, and molecular findings. A one-year and four-month-old male, born of third-degree consanguinity, presented with delayed motor milestones, hypotonicity, short stature, doll-like facies, and hepatosplenomegaly. Preliminary investigations revealed fasting hypoglycemia, ketonuria, elevated liver enzymes, and histological evidence of glycogen accumulation. Whole exome sequencing identified a homozygous deletion encompassing exons 2 to 10 of the PHKB gene, confirming the diagnosis of GSD IXb. GSD IXb due to PHKB mutations is rare, comprising only 10% of liver-specific GSD IX cases. Compared with similar cases reported in the literature, our analysis highlights the genetic heterogeneity within this subtype. Although clinical manifestations may overlap, specific genetic alterations vary, indicating that an individualized diagnostic approach is needed.
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Renal angiomyolipoma (AML) is a rare benign tumor that follows an autosomal dominant inheritance pattern. Its association with polycystic kidney disease is uncommon, with only a handful of cases documented in the literature. The growth of lesions to a significant size may lead to life-threatening complications. We report a case of a 32-year-old female who presented with a palpable mass and bilateral flank pain. Following clinical assessment and CT examination, the patient underwent a left radical nephrectomy. The resected mass measured 9.3 x 8.2 x 7.5 cm, and the subsequent histopathological examination confirmed the diagnosis as renal AML.
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Epithelioid hemangioma (EH), a rare benign tumor, is documented in only a few cases in the medical literature. The complications of epithelioid hemangioma depend on the site of their presentation. If located in the eye, epithelioid hemangiomas may lead to amblyopia; in the larynx, they can cause respiratory issues; and if affecting bone, they can result in osteolytic lesions. Here, we present a case of a 40-year-old male who presented with swelling in the medial end of the right clavicle. Following clinical evaluation and a computed tomography scan, an excision biopsy was performed. The excised lesion measured 3 x 2.5 cm, and histopathological examination confirmed the finding as an epithelioid hemangioma.
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Introduction Serous effusion cytopathology is a minimally invasive, cost-effective procedure and plays a crucial role in diagnosing a spectrum of pathological conditions, ranging from benign to malignant. The International System for Reporting Serous Fluid Cytopathology (ISRSFC) offers a standardized framework for reporting serous effusions, aiding in better communication and clinical decision-making. Aims and objectives This study aimed to categorize effusions using the ISRSFC reporting system. In addition, we sought to estimate the risk of malignancy (ROM) for each diagnostic category and evaluate the diagnostic performance of conventional smear versus cell block techniques. Materials and methods This cross-sectional study was conducted in the Department of Pathology over one year. We applied the ISRSFC criteria to serous effusions and categorized them accordingly. The ROM for each category was assessed with histopathology serving as the gold standard. Then, the diagnostic performance including sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and diagnostic accuracy was evaluated using conventional smear and cell block techniques. Results The study included 185 serous effusion cases, with ages ranging from two months to 85 years. The male-to-female ratio was 1.1:1. Most effusions were pleural fluids constituting about 133 cases (71.9%), followed by peritoneal fluids (47 cases, 25.4%) and pericardial fluids (five cases, 2.7%). Among the fluids, four (2.2%) were diagnosed as non-diagnostic (ND), 152 (82.2%) as negative for malignancy (NFM), four (2.2%) as atypia of undetermined significance (AUS), nine (4.8%) as suspicious for malignancy (SFM), and 16 (8.6%) as malignant (MAL). The overall ROM was 25% for ND, 8.5% for NFM, 50% for AUS, 77% for SFM, and 100% for MAL. The sensitivity, negative predictive value (NPV), and diagnostic accuracy were superior when combining conventional smear with the cell block technique. Conclusions Our findings underscore the use of ISRSFC in categorizing effusion samples, assessing the ROM, and guiding clinical management. Moreover, our study highlights the benefits of employing a combined approach using conventional smears and cell blocks for enhanced diagnostic accuracy in serous effusions.
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Background and objective Rhabdomyosarcoma (RMS) is a rare and malignant mesenchymal tumor characterized by skeletal muscle differentiation. While it is a common soft tissue sarcoma in children, its incidence significantly decreases with advancing age, rendering it exceptionally rare in individuals aged more than 45 years. This study aimed to shed light on the clinicopathological diversity and subtypes of RMS, thereby providing a comprehensive overview for enabling diagnostic precision and therapeutic strategies in treating this infrequently encountered malignancy in adults. Methodology This was a hospital-based cross-sectional study conducted in the Department of Pathology. Patients who were diagnosed with RMS over a period of three years were included in the study. The demographic features such as age and sex and aspects related to the tumor site, size, subtypes of RMS, and immunohistochemical expression were studied. Results A total of 14 cases were included in our study. The age at diagnosis ranged from four months to 65 years with a male-to-female ratio of 1:2.5. The sites of presentation were head and neck, trunk, pelvis, genitourinary tract, and retroperitoneum. The histological types were embryonal, alveolar, pleomorphic, and mixed and spindle cell types. The tumor cells were positive for immunohistochemistry markers desmin, MyoD1, and vimentin. Conclusion This study delved into the clinicopathological intricacies of RMS, offering comprehensive insights into its diverse subtypes. Our findings underscore the unique presentation of RMS in adults, with trunk and genitourinary tracts emerging as primary sites and alveolar and pleomorphic RMS observed as the predominant histological subtypes. Furthermore, the study sheds light on rare subtypes with distinct anatomical distributions.
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Mesenteric arteriovenous dysplasia/vasculopathy (MAVD/V) is an exceedingly rare noninflammatory vascular disorder affecting small-calibre mesenteric arteries and veins. This report details a case of a 51-year-old male diagnosed with MAVD/V following abdominal pain and vomiting. Surgical exploration revealed distinctive smooth muscle collarette around subserosal arteries and veins. The rarity of this condition, with only 13 cases reported globally, underscores the importance of recognizing this rare entity to prevent misdiagnosis. Surgical resection remains the curative approach, ensuring a disease-free state after surgery. Awareness of MAVD/V is crucial for accurate diagnosis and avoiding unnecessary prolonged management.
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Introduction Accurate cytological assessment is pivotal for managing thyroid lesions and various global reporting systems are in use, such as the globally acclaimed The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC), alongside other reporting systems namely, the Japanese Reporting System for Thyroid Aspiration Cytology (JRSTAC), Italian Consensus for the Classification and Reporting of Thyroid Cytology (ICCRTC), the UK Royal College of Pathologists System for Reporting Thyroid Cytopathology (UK RCPath), the Royal College of Pathologists of Australasia and Australian Society of Cytology Classification System (RCPA/ASC). Notably, variations exist among these systems which are influenced by country-specific statistics. Given the lack of large-scale data in India and the difference in prevalence of diagnostic entities compared to the western population, this study aimed to identify reporting systems suitable for the Indian population focusing on distinguishing neoplastic from non-neoplastic lesions. Materials and methods A cross-sectional analysis of 40 thyroid cytology cases with histopathological correlation was conducted. Pathologists independently assessed cytology slides using JRSTAC, ICCRTC, RCPA/ASC, UK RCPath and TBSRTC. Five performance indicators, sensitivity, specificity, positive predictive value (PPV) of neoplastic conditions, negative predictive value (NPV) of non-neoplastic conditions, diagnostic accuracy and two quality indicators, percentage of Atypia of undetermined significance (AUS) and AUS/Malignant ratio were analyzed and compared. Results Among 40 cases, 22 cases were neoplastic (16 papillary thyroid carcinoma, six follicular adenoma) and 18 non-neoplastic (14 multinodular goiter, four lymphocytic thyroiditis). Specific patterns emerged in cases labeled "Non-diagnostic", prompted questions about categorizing inadequately cellular cases as "benign" in light of the presence of specific findings. All reporting systems showed 100% specificity in detecting non-neoplastic and neoplastic conditions in Category 1 and Category 6 respectively. Performance and quality indicators varied among reporting systems with TBSRTC (PPV of neoplastic cases 85.71%, NPV of non-neoplastic cases 70.58%, specificity 85.7%, sensitivity 70.58%, diagnostic accuracy 60%, AUS percentage 22.5% and AUS/Malignant ratio 3%) and RCPA/ASC (PPV of neoplastic cases 76.47%, NPV of non-neoplastic cases 70.58%, specificity 75%, sensitivity 72.2%, diagnostic accuracy 62.5%, AUS percentage 15% and AUS/Malignant ratio 3%) showing better results. Conclusion Among the five thyroid cytology reporting systems studied, TBSRTC and RCPA/ASC showed better overall performance results and quality indicators were close to benchmark. Better performance by TBSRTC 2023 could be due to the detailed criterion mentioned per category with subcategorization of AUS and suspicious for malignancy by features of cytological and architectural atypia. Similarly, RCPA/ASC has subcategorized AUS with defined criteria and certain background features were included as an isolated criterion for the suspicious for malignancy category. These defined criteria outlined in TBSRTC and RCPA/ASC played a crucial role in minimizing and reclassifying cases from the indeterminate categories (AUS and suspicious for malignancy) into well-defined categories with established management protocols.
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BACKGROUND: Intracranial osteochondromas are uncommon. The majority of lesions arise from the base of the skull or from bones developed by endochondral ossification. A minority of cases are attached to the falxcerebri in the fronto parietal location. CASE DESCRIPTION: We report a case of a giant intracranial osteochondroma in a 24-year-old man. This patient presented with complaints of convulsions and headache. Imaging studies of the brain, gross, and histological features concluded it to be an osteochondroma. CONCLUSION: This case is reported in view of extreme rarity of the lesion, and to emphasize the fact that complete surgical resection is curative.