Diagnostic Utility of Direct Immunofluorescence on Paraffin-Embedded Skin Biopsy Samples for the Diagnosis of Autoimmune Vesiculobullous Lesions.

Background Autoimmune vesiculobullous diseases (AIBDs) are a group of diseases characterized by blisters of the skin/mucosa due to the presence of circulating autoantibodies against antigens in the epidermis or the dermo-epidermal junction. Direct immunofluorescence (DIF) for immunoglobulin (Ig)G, IgC3, and IgA on fresh-frozen tissue is the gold standard diagnostic test for AIBDs. However, DIF in the absence of frozen tissue is challenging for the diagnosis of AIBDs. This study aimed to analyze the practical utility of DIF using paraffin-embedded skin biopsy rather than fresh frozen tissue for the diagnosis of AIBDs. Methodology This cross-sectional comparative study included 30 cases of AIBDs. DIF for IgG and IgA was performed on paraffin-embedded tissue (PE-DIF) after proteinase digestion on histopathologically confirmed 15 pemphigus vulgaris (PV), three pemphigus foliaceous (PF), four bullous pemphigoid (BP), three dermatitis herpetiformis (DH), three subcorneal pustular dermatosis (SCPD), and one case each of linear IgA disease and pemphigoid gestationis (PG). PE-DIF staining pattern was compared with the DIF on fresh frozen tissue (FF-DIF). Results All cases of PV and PF showed an intercellular IgG chicken wire staining pattern similar to FF-DIF. However, background staining was more intense in PV cases while less intense in PF cases. Three BP cases showed linear IgG staining in PE-DIF. DH, SCPD, linear IgA disease, and PG cases did not show IgG positivity. Out of three DH cases, two cases showed granular IgA positivity while linear IgA positivity along the basement membrane was seen in a single case of linear IgA disease. Negative IgG staining was observed in SCPD. Immunofluorescence in PE-DIF was rapidly deteriorating than in FF-DIF. Conclusions DIF done on paraffin-embedded tissue can be used as a supplement and salvage technique with histopathology for the diagnosis of AIBDs, particularly when a cryostat facility for frozen tissue is not available and the patient is unable to undergo a second biopsy procedure.

Primary Spinal Intradural Extramedullary Ewing's Sarcoma/Peripheral Neuroectodermal Tumour Masquerading Clinically as a Neurogenic Tumour: A Case Report and Review of Literature.

Ewing's Sarcomas (ES)/Peripheral neuroectodermal tumour (pPNET) are heterogenous group of rare, highly malignant, undifferentiated primitive round-cell neoplasms of neuroectodermal origin. pPNETs are seldom observed to involve the spine of which Spinal Intradural Extramedullary Extraosseous Primary ES/pPNET are extremely rare. We report a case of a 23-year-old male with complaints of low backache and hip pain radiating to the left inguinal region for four months. Radiology findings were suggestive of a neurogenic tumour. Cytomorphology, histomorphology and immunohistochemistry evaluation were done. Diagnosis was consistent with ES/pPNET. Careful correlation between clinical history, cytomorphology, histopathology, immunohistochemical and molecular analysis can help to distinguish primary spinal ES/PNET from other primary spinal tumours and will help clinicians to start treatment at the earliest.

Unraveling the Enigma of Perforating Itches: A Comprehensive Report of Reactive Perforating Collagenosis in Three Patients.

Reactive perforating collagenosis (RPC) is a rare dermatosis where dermal connective tissue erupts through the epidermis, resulting in diverse clinical manifestations such as umbilicated papules with crusting and excoriated nodules with central puncta. Associated with systemic disorders like diabetes mellitus, chronic kidney diseases, and autoimmune conditions, RPC's pathogenesis involves abnormal collagen metabolism, immune dysfunction, genetic predisposition, and environmental triggers. Histopathological examination reveals vertically oriented shallow cup-shaped invaginations containing degenerated collagen fibers, aiding diagnosis. Treatment includes managing underlying causes and utilizing options like topical corticoids, retinoids, and phototherapy, with a possibility of spontaneous regression and recurrence. This case report highlights the significance of considering RPC in patients with characteristic skin lesions and severe itching, emphasizing early recognition and accurate diagnosis to optimize patient care. Continued research and collaboration are crucial for improving outcomes in individuals affected by RPC.

Role of cytopathology in diagnosing phaeohyphomycosis masquerading as nerve abscess in a lepromatous leprosy patient: A case report.

INTRODUCTION AND IMPORTANCE: Phaeohyphomycosis is a rare fungal infection primarily affecting immunocompromised individuals. Its clinical manifestations are diverse, and diagnosis can be challenging, particularly when lesions mimic other conditions. CASE PRESENTATION: A 66-year-old male, with a history of irregular leprosy treatment and prolonged steroid use, presented with symptoms suggestive of a nerve abscess. On examination, cystic swellings were observed on the left thumb and leg. Histopathological examination and fine needle aspiration cytology (FNAC) revealed melanized hyphae, leading to a final diagnosis of phaeohyphomycosis. The patient was treated with oral itraconazole, leading to regression in lesion size. CLINICAL DISCUSSION: Leprosy patients on long-term steroids are especially susceptible. The pathogenicity of these fungi in immunocompetent people is believed to be due to melanin in their cell walls, which defends against host defenses. Diagnosis involves histopathological examinations, staining, and fungal culture. Treatment involves surgical excision and antifungal drugs. If untreated, it can lead to severe complications including fatal brain infections. CONCLUSION: This case highlights the unusual presentation of phaeohyphomycosis mimicking a nerve abscess in a leprosy patient. It underscores the importance of a high degree of clinical suspicion in diagnosing such rare infections, particularly in immunocompromised individuals. It also emphasizes the value of FNAC in reaching a definitive diagnosis. Prompt diagnosis and appropriate treatment are essential to prevent potentially serious outcomes.

Atypical Hansen's Disease Mimicking Xanthogranuloma: Role of Cytology.

Fine needle aspiration cytology is a simple, safe, and effective technique that can be used in the diagnosis of cutaneous diseases. Here, we present a case of Hansen's disease with an erythematous dermal nodule mimicking xanthogranuloma clinically. In our scenario, since leprosy is considered eliminated in India, the presentation of patients with classical signs and symptoms is becoming rare. Atypical manifestation of leprosy is increasing day by day, so it is necessary to have a high suspicion of leprosy in every case.

Evaluation of Immunohistochemical Expression of Enhancer of Zeste Homolog 2 (EZH2) and Its Association With Clinicopathological Variables in Carcinoma Cervix.

INTRODUCTION:  Carcinoma cervix is the fourth most common cancer worldwide and is one of the leading causes of cancer death in women. Recently, immunohistochemical expression of biomarkers has been utilized as indicators of disease progression, aggressiveness for predicting the prognosis in various cancers. DNA methylation of genes plays an important role in pathogenesis of carcinoma cervix and detection of aberrant methylation can be utilized for detection of carcinoma cervix and monitoring of its progression. Enhancer of Zeste Homolog 2 (EZH2) is a histone methyltransferase and catalyzes methylation of histone H3 and plays an important role in tumor cell proliferation, invasion, and metastasis. The aim of this study was to analyze the pattern, distribution, and grade of immunohistochemical expression of EZH2 in carcinoma cervix and study its association with clinico-pathological variables such as age, site and size of tumor, type of growth, tumor grade, histological subtype, lymph node metastasis, and stage of the tumor according to the Federation of Gynaecology and Obstetrics (FIGO). MATERIALS AND METHODS:  This observational study was carried out in the Department of Pathology & Lab Medicine, at our institute. A total of 60 consecutive histopathologically confirmed cases of carcinoma cervix from January 2018 to June 2022 were subjected to immunohistochemistry (IHC) for EZH2. The immunohistochemical score for each case was obtained by multiplying the intensity and percentage of positive cells for EZH2. An immunohistochemical score of four or greater than four was considered as high immunoexpression. The immunohistochemical results were correlated with clinico-pathological variables. RESULTS:  The data were analyzed using relevant statistical methods using SPSS version 23 (IBM Corp., Armonk, NY). To find the significant difference (p value) and association, chi-square test along with Pearson chi-square were used, wherever necessary. A p value of <0.05 was considered as significant. High immunoexpreesion of EZH2 exhibited a significant association (p < 0.05) with the tumor grade, histologic subtype, lymphnode metastasis, and FIGO stage. CONCLUSIONS:  The results of our study affirm that a significant association exists between immunohistochemical expression of EZH2 with tumor grade, histological subtype, lymphnode metastasis, and FIGO stage which can be utilized in future studies with larger sample size to further strengthen the association of EZH2 immunoexpression in cancer cervix patients that may aid in the development of the targeted therapy in near future.

Preliminary Experience in Post-COVID-19 Mycoses: A Pathologist's Perspective.

Background Coronavirus disease is caused by the severe acute respiratory syndrome coronavirus-19. Because of co-morbidities and indiscriminate use of steroids and antibiotics, the incidence of opportunistic fungal infections has increased in COVID-affected individuals. Aims and objectives The aim of the study is to analyze the various tissue reaction patterns of COVID-19-associated mucormycosis in the surgical debridement specimens using routine hematoxylin and eosin (H&E) stain and special stains like periodic acid-Schiff (PAS), Grocott-Gomori's methenamine silver (GMS), Masson trichrome (MT) and Prussian blue (PB), and to understand the pathogenesis of COVID-19 sequelae. Materials and methods This retrospective observational study was conducted after the approval from the Institute Human Ethical Committee (IHEC) on 45 tissue samples of COVID-associated mucormycosis using routine H&E and histochemical stains such as PAS, GMS, MT, and PB. Detailed demographic profiles, clinical information, radiological findings, and relevant microbiological data in available cases, like reports on potassium hydroxide (KOH) mount preparation, and fungal culture reports on Saboraud's Dextrose Agar (SDA) medium were collected. The different histomorphological tissue reaction patterns were observed and analyzed. Results All the surgical debridement specimens from post-COVID cases had histomorphology of mucormycosis displaying broad, aseptate, ribbon-like fungal hyphae with right-angle branching (45/45). Six of the 45 cases also reveal thin, narrow septate, acute angle branching hyphae, indicating co-existing Aspergillosis (6/45). The histological tissue reaction patterns observed were categorized as extensive tissue necrosis (100%), vascular proliferation (82%), angioinvasion (58%), giant cell reaction (53%), fibrin thrombi (47%), septic thrombi and angiodestruction (40%), fungal osteomyelitis (33%), necrotizing granulomas (31%). Conclusion This study infers that post-COVID-19 associated mucormycosis, alterations in the local tissue microenvironment are found to have a favorable effect on colonizing fungi and result in destructive tissue reactions such as angioinvasion, angiodestruction, necrosis, necrotizing granulomas, suppurative inflammation, and iron pigment deposition. The spectrum of morphological changes reflects the host's immune status.

Extensive mucoepidermoid carcinoma-like differentiation in follicular carcinoma of the thyroid.

Mucoepidermoid carcinoma (MEC) is a rare malignant thyroid neoplasm. Cases of MEC with papillary, insular, and anaplastic thyroid carcinoma have been reported. Here, we present a case of follicular carcinoma with extensive MEC-like differentiation. A 62-year-old female presented with complaint of thyroid swelling for 10 years. Cytological features were suggestive of follicular neoplasm. Contrast-enhanced computed tomography showed metastasis to lung and vertebrae. Salivary glands and breasts were normal on examination and imaging. Subtotal thyroidectomy with bilateral neck dissection surgery was performed. The specimen was submitted for histopathological examination. Microscopy showed features of follicular carcinoma with capsular and vascular invasion along with an additional MEC-like morphology. Follicular carcinoma with extensive MEC-like differentiation is a rare observation. Since the tumor was sparing salivary glands and breasts, we considered it as mucoepidermoid differentiation over a collision tumor. However, immunohistochemistry and molecular analysis were the limitations.

Haemoptysis in Askin's Tumour: Intrapulmonary Presentation of an Extrapulmonary Tumour.

Ewing's sarcoma (ES) is a small round cell sarcoma arising in the bone or soft tissue. Ewing's sarcoma/primitive neuroectodermal tumours (PNET) of the thoracopulmonary region is called Askin's tumour. The common clinical presentations described for this extrapulmonary tumour are fever, chest wall mass with or without pain, dyspnea, and cough. Very few cases of Askin's tumour have been reported with haemoptysis as the initial presentation, which is usually a presentation of intrapulmonary lesions. A 22-year-old male presented to the emergency department with complaints of haemoptysis, mild chest pain, and swelling on the right side of the chest wall. Radiological investigations showed a soft tissue mass measuring 13 cm × 11 cm × 10 cm in the right thoracic region, causing the destruction of the second rib. Histopathological examination showed the presence of a malignant small round cell tumour. Immunohistochemistry (IHC) analysis showed the tumour to be positive for CD99, NKX 2.2, and MIC2. The final diagnosis of Askin's tumour of the thoracopulmonary region was given. The case is being reported in view of the rare type of clinical presentation.

Elusive Primary in Low Grade Mucoepidermoid Carcinoma: Dilemma of Chronology and Terminology.

Salivary gland tumours constitute an uncommon and diverse group of neoplasms that vary considerably in their histology and biologic behaviour. As per Globocon 2018, salivary gland malignancy account for 0.3% of all cancer cases and 0.2% of all cancer deaths worldwide, reflecting the rarity of these neoplasms. Mucoepidermoid carcinoma (MEC) is a common malignant tumour of major and minor salivary gland, which comprises about 10% of all salivary gland neoplasms and approximately 35% of malignant salivary gland neoplasms. While three fourth of cases of MEC arise in the parotid, they account for a large proportion of salivary gland neoplasms occurring in minor salivary glands. Appending to the uncommonness, unusual presentations like MEC arising in heterotopic rests of salivary gland tissue in intraparotid or extraparotid lymph nodes, and MEC arising in lingual tonsils have been reported. Such diversity of clinical presentation may present a diagnostic challenge. In this continuum, we report a rare and unique case of low grade mucoepidermoid carcinoma of minor salivary gland, which primarily presented as cervical lymph node metastasis, three years before the primary intraoral lesion occurred.

Histopathologic spectrum and clinical correlation of lesions of jaw - a series of 60 cases.

Odontogenic tumors have the potential for the development of malformations of the teeth as well as the surrounding tissue. Sound knowledge of various types of jaw lesions and their characteristics will help the clinician with timely measures and management. Our main aim was to study the histopathological nature of various jaw lesions retrieved from biopsies and resected specimens. Consecutive 60 cases of jaw lesions were analyzed. Odontogenic cyst, odontogenic tumor, fibro-osseous lesions, and giant cell lesions were included in this study. Lesions of the oral cavity, soft tissue lesions, secondary and inflammatory lesions of the jaw were excluded. H&E stained slides were examined by light microscopy. A total of 60 jaw lesions were analyzed for histologic type. Odontogenic cysts (55%) were found to be most common followed by odontogenic tumors (25%), fibro-osseous lesions (10%), giant cell lesions (05%), and non-odontogenic cysts (05%). The most commonly affected age groups were between 20-40 years. The mandible was more commonly involved bone. To conclude, based only on histology, the distinction between odontogenic cysts is difficult and almost impossible when they are secondarily infected. For definitive diagnosis clinical-radiological correlation is needed.

A Rare, yet Classic Case of Colloid Cyst of Third Ventricle.

Colloid cyst of third ventricle is a rare, benign, congenital lesion that usually presents with headache, and associated with altered cognition, nausea, vomiting, gait ataxia, and blurred vision. A large cyst/growing cyst can cause obstructive hydrocephalus leading to acute rapid neurological deterioration and sudden death. Here we report a classic clinical presentation and histopathological features of colloid cyst of third ventricle with specific emphasis on the importance of rapid diagnosis and management to avoid potentially fatal complications of this otherwise benign lesion. Newer modalities like neuroendoscopy or stereotactic aspiration of cyst are now the preferred choices of management. Awareness of this entity for early diagnosis and management with minimally invasive procedures such as neuroendoscopy or stereotactic aspiration of cyst is crucial for better prognosis and patient care.

Cytomorphological spectrum of hand, wrist, and foot lesions at tertiary care center in central India.

BACKGROUND: Fine-needle aspiration cytology (FNAC) being a fast technique is used as a primary investigation to diagnose wide spectrum of hand, wrist, and foot lesions. These sites are prone to trauma, reparative, and infectious process, which forms mass lesions mimicking neoplasia. Our study highlighted the importance of FNAC with the chance of reduction in biopsy or excision. AIMS AND OBJECTIVES: To report the prevalence and cytomorphological spectrum of hand and foot lesions with the aim of consolidating the diagnostic potential and also correlate the cytological evaluation with histopathology. MATERIALS AND METHODS: This retrospective observational study was done in central India for the period of 5.5 years. The archive cytology slides of patients with palpable lesions at these sites are reviewed and analyzed. RESULTS: Of the total 6512 FNAC cases, 115 cases presented as swelling in the hand, wrist, and foot are reviewed. Age ranged from 4 months to 80 years with M:F = 1.25:1. Of the 111 satisfactory smears (96.7%), 21 cases (18.9%) diagnosed as inflammatory lesion, including synovitis, tuberculosis, gout, and fat necrosis. Sixty cases as benign non-neoplastic (tumor-like) lesions with the most common being ganglion (29). Of the 30 neoplastic lesions, 26 were benign tumor with the most common being mesenchymal neoplasms (19), followed by giant cell tumor of tendon sheath. Malignant tumors included malignant melanoma, small round cell tumor, and squamous-cell carcinoma. CONCLUSION: FNAC is useful investigation for early diagnosis of hand and foot lesions. These lesions are benign mostly with less malignancy occurrence (<2%), compared with other soft tissue lesions.

FNAC of Breast Lesions with Special Reference to IAC Standardized Reporting and Comparative Study of Cytohistological Grading of Breast Carcinoma.

BACKGROUND: International Academy of Cytology (IAC) has established a process to produce comprehensive and standardized approach to fine-needle aspiration cytology (FNAC) reporting. They have categorized the breast lesions in C1 to C5. (C1-Insufficient material, C2-Benign, C3- Atypical, C4-Suspicious & C5-Malignant). AIMS AND OBJECTIVES: The aim of study is to classify various breast lesions (C1 to C5) and to grade breast carcinoma on FNAC using Robinson's grading system which is then correlated with modified Bloom-Richardson grading. MATERIALS AND METHODS: All routine FNAC for breast lump were included in the study during the period from Jan 2016 to Jan 2017. The study was conducted in the Department of pathology and lab medicine of a tertiary care hospital in central India. RESULTS: A total 225 female patients were included in the study, with an age group ranging from 15 - 79 years, with lesions in breast were taken. C1 lesions were found in 3 cases, C2 in 186 cases, C3 in 13 cases, C4 in 4 cases, and C5 in 19 cases. Correlation of cytohistological grading was obtained in 108 cases. CONCLUSION: Cytological categorization based on IAC structured reporting will enhance the reproducibility of reports among pathologist & clinicians. With the comparison between cytohistological nuclear grading, the cytoprognostic scores will help in evaluating the aggressiveness of tumor, predicts histological grade and prognosis. It could be a useful parameter for selecting neo-adjuvant chemotherapy.

A Rare Case of Renal Pelvic Hydatid Cyst Masquerading as Renal Calculi.

Background: Hydatid disease of urinary tract is most common in the kidney. In kidney, hydatid cysts are most commonly found in the renal parenchyma. Isolated hydatid cysts in the renal pelvis are extremely rare with only three cases reported in the literature. Case Presentation: We present a case of isolated hydatid cysts in the renal pelvis masquerading as renal pelvic calculi, which were diagnosed during surgery and confirmed on histopathology. Conclusion: Hydatid cysts can masquerade as renal calculi. Preoperative modalities may miss the correct diagnosis. Histopathology in suspected cases can confirm the diagnosis so that proper chemotherapy can be offered to patient to avoid recurrence.

Medullary thyroid carcinoma co-existent with Hashimoto's thyroiditis diagnosed by a comprehensive cytological approach.

Fine-needle aspiration cytology (FNAC) is a preliminary test for the diagnosis of thyroid lesions. We hereby report a rare case of medullary thyroid carcinoma (MTC) co-existing with Hashimoto's thyroiditis (HT). This case was substantiated with ancillary tests on cytology material to give a novel insight. A 60-year-old female presented clinically with diffuse enlargement of the thyroid, and right-side nodule on ultrasonography. FNAC of the isthmic area showed features of HT, while cytology of right-side nodule displayed sheets of plasmacytoid cells and frequent scattered large bizarre and pleomorphic cells, lymphoglandular bodies and pale eosinophilic material. The differential diagnosis of MTC with co-existent HT or high-grade lymphoma was considered. To establish the diagnosis, serum calcitonin and ancillary studies on aspirated material were carried out. High serum calcitonin (7251 pg/mL), Congophilia on smears, and CD 45-ve; CD56+ve expression of tumor cells on flowcytometric analysis established the diagnosis of MTC over lymphoma. This diagnosis was further confirmed upon histopathology. Ancillary studies on aspirated material established the diagnosis of MTC and excluded the diagnosis of lymphoma. Establishing the correct diagnosis was cardinal in such a scenario as these diseases have extremely diverse management.

Cytomorphology of Skin Adnexal Tumors: A Tale of Two Scalp Swellings.

The primary and metastatic tumors of the skin can be effectively diagnosed by fine needle aspiration cytology (FNAC); however, the cytomorphological features of skin adnexal tumors are rarely described in the literature. We hereby describe the cytological features of two histologically confirmed cases of benign skin adnexal tumors. Case 1 is of a 46-year-old female who presented with an elevated firm nodule over the scalp. A cytological diagnosis of benign adnexal tumor possibly of sebaceous origin was given. The nodule was excised and histopathological examination confirmed the diagnosis of sebaceoma. Case 2 is of a 19-year-old male who presented with a pigmented scalp swelling. Cytomorphological features were suggestive of benign skin adnexal tumor with foci of melanin pigment. The swelling was excised and histopathological examination confirmed the diagnosis of eccrine poroma. To the best of our knowledge, only one previous report of sebaceoma and no report of eccrine poroma describing the cytological findings of these two tumors exist. We report these two cases of benign skin adnexal tumors to discuss the cytological features and the potential diagnostic dilemma that they pose to the cytologist.