Primary soft tissue sarcoma breast with multiphenotypic differentiation.

Primary soft tissue sarcomas of the breast are rare aggressive neoplasms. These often are misdiagnosed with other more common neoplasms like fibroepithelial malignancies, namely phyllodes tumour and metaplastic carcinoma. Being uncommon, chances of being misdiagnosed are higher leading to early mortality. A multidisciplinary team incorporating surgery, pathology, chemotherapy and radiotherapy is required to formulate an approach to primary soft tissue sarcoma. Generally, these tumours may show single or dual phenotype; we present one rare case report showing multiphenotypic differentiation.

Vascular tumors of the liver: A brief review.

Vascular tumors of the liver are mesenchymal lesions from endothelial cells. They range from common benign lesions such as haemangioma, intermediate tumors like Kaposi sarcoma, and perivascular epithelioid cell tumor to malignant tumors such as hepatic epithelioid hemangioendothelioma and hepatic angiosarcoma in adults. Pediatric vascular tumors of the liver also include benign, locally aggressive, borderline, and malignant masses with haemangiomas being the most common benign tumors and epithelioid hemangioendothelioma being an uncommon pediatric malignancy. The list of these lesions is completed by nodular regenerative hyperplasia, solitary fibrous tumour, and hepatic small vessel neoplasms (HSVN). Some of these tumors are uncommon and rare. This review article aimed to enumerate hepatic vascular tumors along with their imaging, histopathology, molecular findings for accurate diagnosis that can result in better management.

Thoracoscopy-Assisted Esophagectomy for Esophageal Leiomyomatosis.

INTRODUCTION: Diffuse esophageal leiomyomatosis is a rare esophageal tumor characterized by circumferential thickening of smooth muscle layers of the entire esophagus. CLINICAL CASE: Herein, we describe the case of a 19-year-old girl, who presented with a history of long-standing dysphagia. On evaluation she was found to have diffuse esophageal leiomyomatosis and was managed successfully by thoracoscopy-assisted esophagectomy with intra-nodal indocyanine green injection. DISCUSSION: In this report, we discuss the pre-operative workup and our surgical approach to managing this rare entity. We also discuss the available literature on the subject and the lessons learnt in managing this complex condition.

Primary Synovial Chondromatosis of the Ankle in a Child: A Rare Case Presentation and Review of Literature.

Introduction: Synovial chondromatosis is not a common condition and involvement of the ankle joint is quite rare. We found only one case of synovial chondromatosis of the ankle joint among the pediatric population. We present a case of a 9-year-old boy with synovial chondromatosis of the left ankle. Case Report: A 9-year-old boy had synovial osteochondromatosis in the left ankle joint, which caused pain, swelling, and restriction of movement of the left ankle. Radiological examinations showed variable size calcific foci adjacent to the medial malleolus and medial ankle joint space with mild soft-tissue swelling. The ankle mortise space was well-maintained. The magnetic resonance imaging of the ankle joint revealed a benign synovial neoplastic process and a few focal marrows containing loose bodies. The synovium was thick, and there was no articular erosion. The patient was planned and underwent an en bloc resection. A lobulated pearly white mass arising from the ankle joint was observed intraoperatively. Histological examination also showed attenuated synovium with osteocartilaginous nodule with binucleated and multinucleated forms of chondrocyte typical of osteochondroma were appreciated. Endochondral ossification, mature bony trabeculae with intervening fibro adipose tissue, was noted. The patient had remarkable relief of clinical complaints and was almost asymptomatic at the time of the first follow-up. Conclusion: Synovial chondromatosis may present with diverse clinical manifestations according to the different stages of the disease as described by Milgram; like joint pain, limitation of movements, swelling due to the close proximity of important structures including joints, tendons, and neurovascular bundles. A simple radiograph with a characteristic appearance is usually sufficient in confirming the diagnosis. In pediatric patients, overlooking these conditions may result in growth abnormality, skeletal deformities, and several mechanical problems. We suggest that when dealing with the case of swelling in or around the ankle, the differential diagnosis should include synovial chondromatosis.

Focal Cortical Dysplasia with hippocampal sclerosis.

Focal Cortical Dysplasia (FCD) is a group of focal developmental malformations of the cerebral cortex cytoarchitecture. FCD usually manifests as medically intractable epilepsy, especially in young children. Live patients are diagnosed by radiological examination such as magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG PET), magnetoencephalography (MEG), diffusion-tensor imaging (DTI), and intracranial electroencephalogram (EEG). While some cases can be missed by radiological examination, they are usually diagnosed on the histopathological examination of the surgically removed specimens of medically intractable epilepsy patients. We report a case of a young girl with cerebral palsy, mental retardation, and seizure disorder who died in her sleep. The deceased was diagnosed with FCD type III with hippocampal sclerosis on histopathological examination at autopsy. H & E stain and NeuN immunohistochemistry neuronal cell marker were used to demonstrate the findings of FCD.

Heterotopic Pancreas Mimicking Metastases From Renal Carcinoma: A Rare Differential.

ABSTRACT: Heterotopic pancreas, also known as ectopic or aberrant pancreas, is described as the deposits of normal pancreatic tissue "dropped" into the developing gastrointestinal system. Here we present an operated case of renal clear cell carcinoma, which on 6-month follow-up presented with eccentric mass in the gastric body suspicious for malignancy. Endoscopic biopsy was inconclusive and showed isometabolism on 18F-FDG PET/CT. It was subsequently resected laparoscopically, and final histopathology revealed heterotopic pancreas.

Clinical triad with multi-biopsy histopathology as a reliable diagnostic marker of mycetomas: a retrospective review from a tertiary care center.

BACKGROUND: Mycetoma is a neglected tropical infectious disease which runs a prolonged and protracted course. Microbiological confirmation is diagnostic yet unreliable due to poor sensitivity and variable availability of culture facilities in resource poor settings. METHODS: A retrospective review was performed on electronic records (histopathology, microbiology, and radiology) of all patients who underwent skin biopsies with mycetoma as one of the clinical differential diagnoses from year 2016 to 2020. RESULTS: Out of 73 patients biopsied with a differential of mycetoma, 42 fit the clinical triad of swelling-sinuses-granules. After clinical, microbiological, pathological, and radiological correlation, 31 cases were of eumycetoma and seven were of actinomycetoma. Mean patient age was 37.58 ± 13.8 years with a male to female ratio 2.45 : 1 and mean disease duration of 11.31 ± 10.9 years. Histopathological findings revealed fungal hyphae in 18 cases and gram-positive bacteria in six cases. Fungal culture was positive in 13 cases with the three commonest organisms being Madurella mycetomatis in five cases, Fusarium and Aspergillus nidulans in two cases each. X-ray changes of soft tissue, bones, and joints were seen in 25 cases, and "dot-in-circle" sign was seen in eight of nine MRIs. CONCLUSION: Eumycetoma was more common than actinomycetoma in our setup, ratio being 4.43 : 1. A clinical triad of swelling, multiple sinuses and grainy discharge with any one diagnostic support (histopathology/radiology) is sufficient to make a definitive diagnosis of mycetoma in the absence of microbiological identification.

Ileo-dermoid Fistula: A Rare Presentation of Ovarian Dermoid.

Mature cystic teratoma is a benign ovarian tumor that usually presents in reproductive-age females. This tumor usually presents with pain abdomen, bloating, and a lump. Hereby, we describe a case of an ovarian dermoid presented with features of intestinal obstruction secondary to ileo-dermoid fistula formation. A 55-year-old postmenopausal female presented with lower abdominal pain, nausea, vomiting, and the feeling of a lump in the abdomen. On evaluation and imaging, it was diagnosed as a large ovarian dermoid (with malignant transformation) with multiple fistulous communications with ileal loops. The patient was managed by laparotomy, total abdominal hysterectomy with bilateral salpingo-oophorectomy, bowel resection, and anastomosis. The patient was discharged in good condition. The rupture of malignant ovarian dermoid followed by enterodermoid fistula formation and intestinal obstruction is rare. Complete cytoreduction and bowel repair should be considered for optimal results.

Focal Cortical Dysplasia with hippocampal sclerosis

ABSTRACT Focal Cortical Dysplasia (FCD) is a group of focal developmental malformations of the cerebral cortex cytoarchitecture. FCD usually manifests as medically intractable epilepsy, especially in young children. Live patients are diagnosed by radiological examination such as magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG PET), magnetoencephalography (MEG), diffusion-tensor imaging (DTI), and intracranial electroencephalogram (EEG). While some cases can be missed by radiological examination, they are usually diagnosed on the histopathological examination of the surgically removed specimens of medically intractable epilepsy patients. We report a case of a young girl with cerebral palsy, mental retardation, and seizure disorder who died in her sleep. The deceased was diagnosed with FCD type III with hippocampal sclerosis on histopathological examination at autopsy. H & E stain and NeuN immunohistochemistry neuronal cell marker were used to demonstrate the findings of FCD.

Solitary Fibrous Tumor of the Umbilical Region in a Pediatric Patient.

Background: Fibrous tumors are rare tumors of mesenchymal origin arising in the serosal surfaces within the body. Although commonly seen in adults, solitary fibrous tumors rarely occur in children. Histopathology and immunohistochemistry are the methods of choice for diagnosing solitary fibrous tumors. Case Report: A 2-year-old male presented with a swelling over the umbilicus for the prior 8 months. The umbilical mass was excised and sent for histopathologic examination. The skin-covered greyish soft tissue mass measured 6 × 5.5 × 4.5 cm, and the cut surface showed a homogenous greyish growth. On microscopic examination, a predominantly well-circumscribed encapsulated tumor was noted, with spindle shaped cells arranged in a haphazard manner and ectatic vascular channels. The cells were immunoreactive for CD34 and signal transducer and activator of transcription 6 (STAT6) and negative for smooth muscle actin, desmin, myogenin, MyoD1, CD99, epithelial membrane antigen, and beta-catenin. Conclusion: The aim of this case is to make clinicians aware of the umbilicus as a rare site of solitary fibrous tumor in children and the diagnostic importance of STAT6.

Left-Sided Colonic Tuberculosis Presenting as Colonic Stricture: A Rare Presentation of a Common Disease.

Gastrointestinal tuberculosis (TB) mainly presents as an ileocecal disease, and colonic TB is more often seen with terminal ileal involvement. Isolated involvement of the descending colon by TB is uncommon and usually presents with chronic colitis. An acute presentation as intestinal obstruction because of tubercular stricture of the descending colon has not been reported. We encountered a young woman who presented with features of acute bowel obstruction. On evaluation, she was diagnosed with a case of descending colon stricture with a provisional diagnosis of malignant colonic stricture. Left hemicolectomy was performed, and histopathology revealed it to be tubercular stricture. Antitubercular therapy was given for 9 months, and she is doing well at follow-up. A differential diagnosis of TB at an unusual location should always be considered even when presented with atypical symptoms, especially for patients from the endemic zone of TB.

Crosstalk Between Programmed Death Ligand 1, Ki-67 Labelling Index, and Tumor-Infiltrating Lymphocytes in Invasive Breast Cancer and Clinicopathological Correlations in a Tertiary Care Center in Western India.

Background & Objective: Breast cancer is the leading cancer among Indian women and accounts for about 25% of all cancer cases worldwide. The present study aimed to assess Programmed Death Ligand-1 (PD-L1) expression in tumoral cells and tumor-infiltrating lymphocytes (TILs) and evaluate their correlations with the Ki-67 labelling index in invasive breast carcinomas (IBC). Methods: This descriptive observational study was conducted during 2016-2018 and included all diagnosed cases of IBC. The relationships between PD-L1 expression, TILs, hormone receptors, Ki-67, and clinicopathological parameters were studied in IBC. Statistical analysis was performed by SPSS version 23. Results: Out of 114 evaluated cases, 33.33% (N=38) showed PD-L1+ expression in tumor cells and 47.37% (N=54) had PD-L1+ expression in TILs. A high Ki-67 index was observed in 96 cases. Moreover, 49 patients were estrogen receptor (ER)- and 65 were ER+. We observed that 22 of 49 ER- and 49 of 65 ER+ subjects showed PD-L1+ expression, respectively. Conclusion: Our results showed a significant relationship between PD-L1 expression in tumoral cells and TILs, as well as between Ki-67 and TILs. In addition, an inverse correlation was noted between PD-L1 expression and ER. The PD-L1 expression in tumors and TILs and correlation with high Ki-67 may prove the importance of PD-L1 in targeted chemotherapy. An inverse relationship between PD-L1 and ER expression in tumoral cells suggests scope for immunotherapy in ER- IBC. However, further research with more cases is required.

Thick crusted plaques on the periorificial area in a young woman.

We report a young woman with periorificial erosions and thick crusts mimicking pemphigus foliaceous, who was found to have an underlying pancreatic malignancy with normal blood glucose and glycosylated haemoglobin levels. Click here for the corresponding questions to this CME article.

A lumpy bumpy stomach: The more the murkier.

This report describes the radiological and endoscopic findings in a 54-year-old male who presented with epigastric pain. The patient underwent an upper gastrointestinal (GI) barium study followed by axial imaging, which demonstrated nodular gastric wall thickening. The classic findings of aggressive primary gastric diffuse large B-Cell lymphoma are presented with a brief review differentiating the pathological subtypes, important for patient prognostication and planning of therapy.

Splenic Infarct as the Presenting Manifestation of Essential Thrombocythemia.

Background: Essential thrombocythemia is a chronic myeloproliferative neoplasm characterized by thrombotic and hemorrhagic complications. Essential thrombocythemia can be considered a risk factor for thrombotic events. Case Report: A 34-year-old female presented with sudden onset of abdominal pain from splenic infarction for which she underwent splenectomy. Bone marrow examination performed because of increasing thrombocytosis led to a diagnosis of essential thrombocythemia. Postoperatively, she was maintained on low-dose aspirin and doing well at follow-up. Conclusion: Our patient had an undiagnosed case of essential thrombocythemia and presented with symptoms related to splenic infarction. To the best of our knowledge, few cases of splenic infarction consequent to essential thrombocythemia have been reported.

Tubulocystic Renal Cell Carcinoma: An Underrecognized Clinicopathologic Entity.

Background: Tubulocystic renal cell carcinoma is a lesser-known neoplastic entity compared to other common histologic variants of renal cell carcinoma. The World Health Organization identified tubulocystic renal cell carcinoma as a newly recognized renal tumor in 2016. We report a case of tubulocystic renal cell carcinoma in a young adult. Case Report: A 21-year-old male presented with the chief complaint of a lump on the right side of his abdomen since childhood. Magnetic resonance imaging revealed an enlarged right kidney with multiple large multiloculated cysts with hemorrhagic contents and enhancing peripheral nodular solid components with enhancing septa in some of the cysts, suggesting the possibility of multifocal intracystic papillary renal cell carcinoma. Imaging showed a Bosniak type IV cystic lesion in the right kidney. Right radical nephrectomy was performed. Grossly, the kidney was almost replaced by variable-sized cystic lesions with thick septations filled with serous fluid to gelatinous material. The tubules and cysts were lined by a single layer of flat, hobnail, and cuboidal cells with high-grade nuclear features. No ovarian-type stroma was identified. In places, a papillary component was also identified. Tubulocystic renal cell carcinoma was diagnosed based on microscopy and immunohistochemistry results. Conclusion: Tubulocystic renal cell carcinoma is a rare entity that was previously called Bellini duct carcinoma and low-grade collecting duct carcinoma. Because of the limited number of cases reported, tubulocystic renal cell carcinoma needs to be followed to determine the biologic behavior and metastatic potential of these tumors so that management guidelines for such cases can be developed.

Risk Stratification of Pleural Fluid Cytology Based on the International System for Reporting Serous Fluid Cytology in a Tertiary Care Centre.

BACKGROUND: The International Academy of Cytology and the American Society of Cytopathology proposed the international system for reporting serous fluid cytology (TISRSFC) in 2019 to form uniform reporting terminologies for fluid cytology. This system defines a spectrum of diagnostic categories to be used in daily clinical practice. Fluid cytology is a widely accepted, cost-effective, minimally invasive earliest diagnostic method for the investigation that aids management decisions. The present study aims to reclassify pleural fluid cytology and calculate the risk of malignancy (ROM) for each diagnostic category. MATERIAL AND METHODS: It is a retrospective 2 years observational study comprising 690 pleural fluid specimens. Retrospective reviews were performed, and cases were reclassified into five categories as per TISRSFC. Immunohistochemistry was applied whenever needed. Cytological diagnosis was correlated with respective histopathology and/or clinical and/or radiological diagnosis. ROM was calculated for all diagnostic categories. RESULTS: In the present study of 690 cases, 7.97% were non-diagnostic (ND), 84.1% cases were negative for malignancy (NFM), 0.87% were atypia of undetermined significance (AUS), 1.16% were suspicious for malignancy (SFM), and 5.94% were malignant (MAL). Cell blocks were prepared in 33 (4.8%) cases and immunohistochemistry was applied in 7 cases. The commonest site for pleural fluid metastasis was the lungs, accounting for 4.64% (32/690) cases. Further, ROM was calculated for all diagnostic categories as follows: (1) ND: 30.9%, (2) NFM: 12.9%, (3) AUS: 100%, (4) SFM: 100%, and (5) MAL: 90.2%. CONCLUSION: Cytological examination of pleural fluids is an accurate, prompt, and affordable technique. This standardized ISRSFC reporting system will maintain uniformity and reproducibility in reporting, leading to improved clinical decision-making of pleural fluids.