Project description:Merkel cell carcinoma (mcc) is an uncommon malignancy of the skin arising from cells located in the deeper layers of the epidermis called Merkel cells. This malignancy rarely presents as a metastatic disease, and the field is therefore deficient in regards to management. We report the case of a 49-year-old woman who presented with a presumptive diagnosis of osteomyelitis of the left fifth digit that was resistant to treatment with antibiotics; she underwent debridement of the digit that revealed mcc and was later to have metastatic disease to her lungs, liver, and musculoskeletal system. The management of mcc, although simple in the early stage of the disease, can become challenging when it is more advanced. Multiple new modalities for its treatment have emerged over the last few years, and more recently, clinical trials are being conducted for the use of immunotherapy agents in the treatment of this malignancy.
Project description:Kidney cancer is the ninth most common malignancy in the United States. Most kidney cancers are clear cell renal cell carcinoma (RCC) and arise as solid tumors from kidney parenchyma. In the setting of metastatic disease, a primary renal tumor is usually identified, and metastases are often to lung, bone, liver, and brain. Metastatic RCC without an identifiable solid kidney tumor is exceedingly rare. We report the case of a 52 year old male with a rare cutaneous RCC metastasis without an identifiable primary renal tumor.
Project description:Hepatocellular carcinoma (HCC) is the most common primary liver cancer and can arise from any form of chronic liver disease or cirrhosis. With increasing rates of metabolic syndrome and obesity, it is not surprising that NASH is quickly becoming a leading cause of chronic liver disease and HCC in the western hemisphere (Wang and Malhi, 2018). Metastasis is usually found in advanced stages of the disease, owing to its poor prognosis. The lung, bone, and lymph nodes are the most frequent sites of metastasis (Balogh et al., 2016, and Becker et al., 2014). On the other hand, metastasis to the skin and cranium is relatively rare. Literature review reveals less than 10 reported cases in the last 10 years. Herein, we report an unusual case of a “forehead hematoma” leading to the formal diagnosis of metastatic HCC.
Project description:Breast cancer is the most common non-cutaneous cancer affecting women. Despite this high incidence, few cases of non-disseminated breast cancer metastasizing to the kidneys have been reported. This report documents a 78-year-old female in remission for twelve years following lobular breast cancer treatment who presents with haematuria associated with a right renal pelvis lesion. Histological analysis revealed this lesion was metastatic lobular breast carcinoma. A systematic review yielded 15 documented cases of non-disseminated breast cancer metastasizing to the kidneys. This systematic review represents that most comprehensive review of the clinical presentation, pathology, prognosis and management of this rare presentation.
Project description:BackgroundA coronary artery aneurysm is a dilation exceeding 1.5 times the diameter of the patient's largest coronary vessel. They are rare, varying in prevalence between 1.4 and 4.9%. Additionally, they carry a high risk of potential complications, including thrombosis and myocardial infarction, with a risk of rupture. We present an interesting case of a patient with initial imaging suggesting a mass in the right ventricle.Case summaryThis patient initially presented with acute hypoxic respiratory failure related to pulmonary oedema. His course was complicated by symptomatic ventricular tachycardia and an inferoposterior myocardial infarction. Further investigation revealed a left anterior descending artery and circumflex artery thrombosed aneurysm projecting into the right ventricle. Multimodal imaging was used to arrive at his diagnosis. He continues to do well on medical therapy for coronary artery disease and heart failure.DiscussionClinicians should be vigilant for this rare pathology, which may be easily missed yet poses a high mortality risk. Our case demonstrates the benefit of multimodal imaging, as this patient's aneurysm was initially mistaken for a ventricular mass.
Project description:S. stercoralis infection is very common in South East Asian countries including India. Chronic infection is very common with symptoms of diarrhea, abdominal pain, nausea, vomiting, anemia, and cough. Hyperinfection and dissemination usually occur in immunocompromised patients with symptoms mimicking asthma, COPD, or aseptic meningitis. Very few cases of hyperinfection and dissemination have been documented in immunocompetent patients. We report this case for its rarity and future references.
Project description:Background: While subtyping of the majority of malignant chromophobe renal cell carcinoma (cRCC) and benign renal oncocytoma (rO) is possible on morphology alone, additional histochemical, immunohistochemical or molecular investigations are required in a subset of cases. As currently used histochemical and immunohistological stains as well as genetic aberrations show considerable overlap in both tumors, additional techniques are required for differential diagnostics. Mass spectrometry imaging (MSI) combining the detection of multiple peptides with information about their localization in tissue may be a suitable technology to overcome this diagnostic challenge. Patients and Methods: Formalin-fixed paraffin embedded (FFPE) tissue specimens from cRCC (n=71) and rO (n=64) were analyzed by MSI. Data were classified by linear discriminant analysis (LDA), classification and regression trees (CART), k-nearest neighbors (KNN), support vector machine (SVM), and random forest (RF) algorithm with internal cross validation and visualized by t-distributed stochastic neighbor embedding (t-SNE). Most important variables for classification were identified and the classification algorithm was optimized. Results: Applying different machine learning algorithms on all m/z peaks, classification accuracy between cRCC and rO was 85%, 82%, 84%, 77% and 64% for RF, SVM, KNN, CART and LDA. Under the assumption that a reduction of m/z peaks would lead to improved classification accuracy, m/z peaks were ranked based on their variable importance. Reduction to six most important m/z peaks resulted in improved accuracy of 89%, 85%, 85% and 85% for RF, SVM, KNN, and LDA and remained at the level of 77% for CART. t-SNE showed clear separation of cRCC and rO after algorithm improvement. Conclusion: In summary, we acquired MSI data on FFPE tissue specimens of cRCC and rO, performed classification and detected most relevant biomarkers for the differential diagnosis of both diseases. MSI data might be a useful adjunct method in the differential diagnosis of cRCC and rO.
Project description:BACKGROUND:Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail-patella-like renal disease (NPLRD). Fabry disease (FD) is an X-linked lysosomal disease caused by the deficiency of alpha-galactosidase A. The classic form of the disease is characterized by acroparesthesia, angiokeratomas, cornea verticillata, hypertrophic cardiomyopathy, strokes, and chronic kidney disease. Podocyte myelin bodies on ultrastructural examination of kidney tissue are very characteristic of FD; however some medications and other conditions may mimic this finding. CASE PRESENTATION:Here, we report on a female patient with chronic kidney disease (CKD), positive family history for kidney disease and kidney biopsy showing a FSGS lesion and presence of focal myelin figures within podocytes concerning for FD. However, genetic testing for FD was negative. After comprehensive clinical, biochemical, and genetic evaluation, including whole exome and RNA sequencing, she was ultimately diagnosed with NPLRD. CONCLUSIONS:This case illustrates the difficulties of diagnosing atypical forms of rare Mendelian kidney diseases and the role of a multidisciplinary team in an individualized medicine clinic setting in combination with state-of-the-art sequencing technologies to reach a definitive diagnosis.
Project description:BackgroundCardiac foreign bodies (FBs) are rare findings that may present as cardiac masses initially. Here, we present an exceptional and rare case of a hypodermic needle FB that transmigrated to the left atrium and presented as a left atrial mass.Case summaryA 28-year-old woman with multiple psychiatric disorders including intentional FB ingestion and self-inflicting injuries presented to the emergency room with abdominal pain, nausea, vomiting, diarrhoea, and chest pain that radiated to the left arm and face for 2 weeks. An echocardiogram was performed revealing a left atrial mass concerning for myxoma. During the surgical removal of the mass, a hypodermic needle was found attached to the roof of the left atrium surrounded by thrombotic and fibrotic tissue, which was confirmed by pathology.DiscussionCardiac FBs are caused generally by penetrating wounds from direct trauma. Fewer cases have been reported regarding cardiac FB caused by ingestion from migration of the object to the heart. Signs and symptoms for cardiac FB may mimic those of cardiac masses. Cardiac FBs often require surgical intervention to avoid complications.
Project description:IntroductionChromophobe renal cell carcinoma, a distinct subtype of renal cell carcinoma (RCC) with characteristic light microscopic, histochemical, and ultrastructural features, typically has a favorable clinical course.Presentation of caseA 45-year-old femele presented with abdominal pain. A physical examination found a palpable mass in the left upper quadrant of the abdomen. A CT scan of the abdomen showed a heterogeneously enhancing mass, with necrosis and calcifications contents betwen the liver and the right kidney. she underwent surgical resection. Partial nephrectomy was performed. Pathological diagnosis was Chromophobe renal cell carcinoma.Discussion and conclusionChromophobe RCC is a rare variety of kidney neoplasm that has recently been better characterized from a molecular and genetic perspective. Overall, it is considered to have a better prognosis, and is associated with earlier stage tumors and longer overall survival compared with clear cell RCC.