Abstract Introduction/Objective Epithelioid hemangioendothelioma (EHE) is a rare malignant vascular tumor composed of epithelioid and dendritic tumor cells embedded in myxoid or hyalinized stroma. It can occur in various organs and has nonspecific clinical and radiologic presentation. We report a case of EHE in the liver with correlation of cytologic and histological findings. Methods/Case Report A 68-year-old female presented for evaluation of a right hepatic lobe lesion that was noted on Imaging. MRI abdomen with contrast showed a well-circumscribed hypointense nodule with no contrast enhancement. CT-guided fine needle aspiration showed scattered atypical epithelioid cells in a background of benign hepatocytes which were positive for vascular markers (CD31 and CD34) as well as keratins and SMA. A diagnosis of atypical vascular neoplasm was rendered. A partial hepatectomy was performed a month later which showed a 3.2 cm mass with solid tan-white cut surface. Histologically, the mass was composed of epithelioid tumor cells with focal intracytoplasmic vacuoles which were partly solid and partly forming vascular-like spaces, embedded in a background of hyalinized stroma. Immunohistochemically, in addition to the vascular markers the tumor was positive for CAMTA1 confirming the presence of WWTR1-CAMTA1 gene fusion which is characteristic for epithelioid hemangioendothelioma. The patient was discharged in good condition. Results (if a Case Study enter NA) NA. Conclusion Diagnosis of EHE on FNA is challenging. It is characterized by discohesive atypical large polygonal cells with abundant dense cytoplasm in a background of benign hepatocytes. Characteristically, the tumor cells have intracytoplasmic vacuoles containing red blood cells, which resemble signet ring-like structures. Immunohistochemically, positivity for vascular markers and CAMTA1 is diagnostic.
Introduction: Malignant melanoma can metastasize to the small bowel. Symptoms are non-specific, and most patients go un-diagnosed during their lifetime. When found, surgical resection significantly improves survival; however, overall prognosis remains poor. Case Description/Methods: A 63-year-old male with history of metastatic melanoma with metastasis to the lungs and brain presented with abdominal pain and intermittent hematochezia. He was previously diagnosed with immune mediated colitis related to ipilimumab and nivolumab therapy that had resolved with steroid therapy and infliximab. Computerized tomography (CT) of the abdomen-pelvis did not reveal any bowel abnormalities. Endoscopic evaluation was pursued. Colonoscopy did not reveal any mucosal disease. However, upper endoscopy revealed five large and small-sized ulcerated masses in the duodenum (Image A). Biopsies of these masses revealed metastatic melanoma (Image B) with positive SOX-10 immunostaining (Image C). The patient was started on new immunotherapy with plans for further management with oncology. Discussion: We present here a case of metastatic melanoma of the duodenum. Melanoma is the fifth most common cancer in the United States. The small bowel is the most common site of gastrointestinal (GI) tract metastasis. However, most patients with metastatic intestinal melanoma go un-diagnosed, as only 1.5% to 4.4% receive a clinical diagnosis. Common presentation of intestinal melanoma includes abdominal pain, anemia, obstruction and GI bleeding. Diagnostic modalities include abdominal ultrasound, contrast-enhanced CT, upper GI series, endoscopy, and capsule endoscopy. Imaging can reveal a polypoid mass with central ulceration, described as a target or a bulls-eye lesion. Endoscopic assessment typically reveals black colored ulcerated lesions. The treatment of choice for small bowel melanoma is complete resection. However, overall prognosis is still poor, as median survival for patients who undergo curative resection is 22 months. Immunotherapy is considered for multiple lesions. In conclusion, patients with known melanoma presenting with GI symptoms should be evaluated for small bowel involvement, either radiologically or endoscopically. These patients should be approached with a high index of suspicion, as early detection and complete resection can significantly improve survival. Prior history of immune mediated enterocolitis should not preclude repeat thorough endoscopic evaluation when patients have new onset of GI symptoms.Figure 1.: Image A: Endoscopic view of duodenal melanoma lesions Image B, C: Histologic view of duodenal melanoma lesions.
Abstract Introduction/Objective Elastotic lesions are rare benign mass-forming entity. Although, few reports of mucosal and submucosal elastotic lesions have been previously described, localization of these lesions in the omentum is not previously described in the literature. Methods/Case Report We report a case of 60-year-old man with medical history of obesity, hypertension, diabetes mellitus, and a remote abdominal surgery in 1980s who presented to the emergency room complaining of abrupt severe constant epigastric pain that started few hours before. The pain was not relieved by antiacid or analgesic medications. CT of the abdomen showed multiple distended fluid-filled loops of small bowel in mid abdomen with infiltrative changes of mesentery. A diagnosis of small bowel obstruction was made, and patient proceed to have an exploratory laparotomy. During the procedure, extensive adhesions between small bowel and omentum and small bowel obstruction due to a phytobezoar were noted for which he underwent lysis of adhesion, excision of thickened omentum, and enterotomy for removal of significant food bezoar. Grossly, the omentum has multiple chalky tan-gray masses ranging between 1.2 and 1.0 cm in greatest dimension surrounded by indurated fatty tissue. Microscopically, multiple hypocellular foci are seen that are composed almost entirely of truncated elastic fibers, with sparse delicate bands of collagen and scattered prominent thick-walled vessels. Elastic stain highlights these elastic fibers while trichrome stains the elastic fibers pale gray in contrast to the bright blue color of the collagen fibers. Mucicarmine, and Congo red are negative. Patient tolerated the procedure well however, postoperatively he had local wound infection leading to prolonged skin dehiscence. Results (if a Case Study enter NA) NA. Conclusion Elastotic mass-forming lesions in the omentum is a new entity that has not been described before in this location that can clinically manifest with signs and symptoms of bowel obstruction. We suggested the name of elastomatosis omentum.
Autism Spectrum Disorder (ASD) is a diverse collection of neurobiological conditions marked by challenges in social communication and reciprocal interactions, as well as repetitive and stereotypical behaviors. Atypical behavior patterns in a long, untrimmed video can serve as biomarkers for children with ASD. In this paper, we propose a video-based weakly-supervised method that takes spatio-temporal features of long videos to learn typical and atypical behaviors for autism detection. On top of that, we propose a shallow TCN-MLP network, which is designed to further categorize the severity score. We evaluate our method on actual evaluation videos of children with autism collected and annotated (for severity score) by clinical professionals. Experimental results demonstrate the effectiveness of behavioral biomarkers that could help clinicians in autism spectrum analysis.
Obesity is the only known modifiable risk factor for multiple myeloma (MM), an incurable cancer of bone marrow plasma cells. The mechanism linking the two is unknown. Obesity is associated with an increased risk of sleep apnea, which results in chronic intermittent hypoxia (CIH), and drives solid tumor aggressiveness. Given the link between CIH and solid tumor progression, we tested the hypothesis that CIH drives the proliferation of MM cells in culture and their engraftment and progression in vivo. Malignant mouse 5TGM1 cells were cultured in CIH, static hypoxia, or normoxia as a control in custom, gas-permeable plates. Typically MM-resistant C57BL/6J mice were exposed to 10 h/day CIH (AHI = 12/h), static hypoxia, or normoxia for 7 days, followed by injection with 5TGM1 cells and an additional 28 days of exposure. CIH and static hypoxia slowed the growth of 5TGM1 cells in culture. CIH-exposed mice developed significantly more MM than controls (67 vs. 12%, P = 0.005), evidenced by hindlimb paralysis, gammopathy, bone lesions, and bone tumor formation. Static hypoxia was not a significant driver of MM progression and did not reduce survival (P = 0.117). Interestingly, 5TGM1 cells preferentially engrafted in the bone marrow and promoted terminal disease in CIH mice, despite a lower tumor burden, compared with the positive controls. These first experiments in the context of hematological cancer demonstrate that CIH promotes MM through mechanisms distinct from solid tumors and that sleep apnea may be a targetable risk factor in patients with or at risk for blood cancer.