ABSTRACT
Introduction Central nervous system (CNS) tumors pose significant diagnostic challenges due to their varied morphological and differentiating characteristics. Modern advancements in immunohistochemistry (IHC) and molecular pathology have greatly enhanced prognostication, screening, and therapeutic management. Gliomas, a type of tumor originating from glial cells in the CNS, can develop from astrocytes, oligodendrocytes, or ependymal cells. According to the 2021 update, the classification of diffuse gliomas is primarily based on the presence or absence of isocitrate dehydrogenase (IDH1/2) mutations. IDH-wildtype gliomas (glioblastomas) have a significantly poorer prognosis compared to IDH-mutant gliomas (astrocytomas and oligodendrogliomas). Gliomas are highly infiltrative and resistant to treatment, making them largely incurable regardless of their grade and prognosis. Objective This study aimed to determine the histopathological diversity of gliomas and its correlation with protein expressions of IDH, ATRX gene (α-thalassemia/mental retardation syndrome X-linked), Ki-67, and p53 mutations (tumor suppressor gene-53), according to the 2021 World Health Organization (WHO) Classification of CNS Tumors, Fifth Edition. Methods This descriptive cross-sectional study was carried out in the Department of Pathology at a tertiary care center, focusing on various types of gliomas received over a two-year period. A total of 54 specimens of gliomas received from the Department of Neurosurgery were subjected to histopathological examination. Sections were stained using hematoxylin and eosin (H&E), and IHC was performed using four markers (IDH, ATRX, p53, Ki-67) in each case. Results were analyzed according to the 2021 WHO Classification of CNS Tumors, Fifth Edition. Results The majority of individuals were between the age group of 40 and 60 years, showing a male predominance (65%). The most common site was the frontal lobe. Glioblastoma constituted the largest proportion (46.2%) of the total cases, followed by astrocytoma (20.3%), oligodendroglioma (18.5%), pilocytic astrocytoma (7.4%), and ependymoma (7.4%). All 11 cases of astrocytoma exhibited IDH mutation and ATRX loss, with p53 positive in the majority of cases. Strong nuclear p53 immunohistochemical positivity in >10% of tumor nuclei correlates with TP53 mutations. Among 25 cases of glioblastoma, IDH was negative, ATRX was retained in all cases, and 11 cases were positive for p53 mutation. For oligodendroglioma, out of 10 cases, IDH mutation was positive, and ATRX was retained in all cases. p53 mutation was not seen in any case. All cases of pilocytic astrocytoma were negative for IDH and p53 mutations, with ATRX retained in all cases. In all cases of ependymoma, IDH and p53 mutations were negative, and ATRX was retained in all cases. Glioblastomas exhibited the highest Ki-67 expression. Conclusion The 2021 WHO Classification of CNS Tumors, Fifth Edition, was updated, building on previously established concepts and continuing to evolve. The final diagnosis of gliomas relies on a comprehensive combination of clinical evaluation, neuroimaging, pathological examination, and molecular analysis. Nonetheless, histopathological examination, along with IHC, remains the cornerstone of diagnosis.
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Inflammatory juvenile conjunctival nevi (IJCN) is a rare type of nevus and its clinical presentation overlaps with that of malignant conjunctival melanoma. It is a benign lesion that has been described to progress to melanoma in some cases. IJCN may clinically mimic melanoma due to its rapid growth features and atypical histology. Thus, its accurate diagnosis by histopathology is a prerequisite for proper management. Here, we present a case of conjunctival lesion mimicking melanoma clinically.
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Cirsoid aneurysms, formerly identified as arteriovenous malformations (AVMs), represent infrequent vascular anomalies primarily localized within the scalp. These anomalies are typified by the absence of interposing capillaries, giving rise to extensively vascularized, expanded conduits connecting arterial feeders and venous outflows. This report details a case of a 13-year-old male afflicted with a cirsoid aneurysm in the scalp, who presented with swelling on the left frontal region, accompanied by headache and pulsatile sensations. Definitive diagnosis was achieved through radiological and histopathological examinations. Scalp cirsoid aneurysms may either be congenital in nature or arise following traumatic incidents, with clinical manifestations typically surfacing in the third decade of life. Common clinical presentations encompass a palpable, pulsatile subcutaneous mass, throbbing headaches, tinnitus, and cosmetic concerns. Diverse therapeutic strategies, including surgical excision, endovascular embolization, and percutaneous injection of sclerosing agents, can be employed contingent upon the particular characteristics of the lesion.
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ABSTRACT: Calcifying fibrous tumor (CFT) is a very rare benign fibroblastic tumor featuring a wide anatomical distribution and mimicking various spindle cell tumors. CFT has been documented in soft tissues, gastrointestinal tract (GIT), neck, adrenal glands, and pleura. Within the GIT, it is reported in the stomach, small bowel, large intestine, stomach, esophagus, and appendix. The occurrence of CFTs in the gastrointestinal tract presents a diagnostic dilemma, firstly due to the rarity of the lesion and secondly, due to the occurrence of a variety of other stromal lesions in the gastrointestinal tract with histological features that overlap with CFT. In the jejunum, it is extremely rare. We present one such rare case of jejunal CFT at an unusual age, complicated by jejuno-jejunal intussusception resulting in acute intestinal obstruction.
ABSTRACT
Neuroendocrine tumours (NETs) are a rare type of tumours that arise from the neuroendocrine cells which are distributed throughout the body. Of all the gastrointestinal tumours only 1-2% account for NETs. They have an extremely low incidence of 0.17% arising in the intrahepatic bile duct epithelium. Majority of hepatic NETs occur as a result of metastases from the primary NETs. Most cases of primary hepatic NET (PHNET) present as a solid nodular mass. However, predominantly cystic PHNET is extremely rare which mimics other cystic space-occupying lesions clinically and radiologically as seen in this case.
ABSTRACT
Extrarenal rhabdoid tumour of soft tissue in children is a rare tumour associated with poor prognosis. It is a heterogeneous group of aggressive tumours with distinct histopathological and immunohistochemistry findings. The tumour is characterised by diffuse proliferation of rhabdoid cells with hyaline like inclusion bodies. Defining feature is aberration of INI1/SMARCB1 gene located at chromosome 22q11.2. We report one such rare case in a female infant presenting as left axillary mass.
Subject(s)
Rhabdoid Tumor , Sarcoma , Soft Tissue Neoplasms , Infant , Child , Humans , Female , DNA-Binding Proteins/genetics , Transcription Factors/genetics , SMARCB1 Protein/genetics , Rhabdoid Tumor/diagnosis , Rhabdoid Tumor/pathology , Chromosomal Proteins, Non-Histone/genetics , Immunohistochemistry , Sarcoma/pathology , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/pathologyABSTRACT
Chronic sclerosing sialadenitis is associated with the immunoglobulin G4 (IgG4)-related disease (RD) spectrum. IgG4-RD is a newly recognized immunomediated fibroinflammatory condition characterized by several features: a tendency to form tumefactive lesions at multiple sites, lymphoplasmacytic infiltrate, fibrosis and obliterative phlebitis. Often but not always, the serum IgG4 concentrations are also elevated. Immunohistochemistry for IgG4 is helpful to clinch the diagnosis. Here, we describe a case of 65-year-old male with IgG4-related chronic sclerosing sialadenitis of the s ubmandibular gland. We have discussed the histopathological criteria to diagnose this entity.