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Mixed neuroendocrine-non-neuroendocrine neoplasms (MiNENs) are a rare group of heterogeneous tumors, consisting of an endocrine and a nonendocrine component, which can develop throughout the gastrointestinal (GI) tract. This case presents a 70-year-old man with a complex medical history who initially presented with an upper GI bleed. After being stabilized, he underwent an esophagogastroduodenoscopy (EGD) that revealed a suspicious gastroesophageal junction (GEJ) mass. Histopathological studies paired with immunohistochemical investigations of the mass confirmed the rare diagnosis of MiNENs. He then underwent an endoscopic submucosal dissection (ESD) with subsequent chemotherapy and adjunct radiotherapy, with no recurrence noted on post-treatment surveillance. This case highlights the need for an EGD, histopathological examination, and immunohistochemical staining for detecting the underlying etiology of an upper GI bleed.

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Heterotopic pancreas (HP) is the presence of pancreatic tissue outside of its normal anatomical position without vascular continuity from the main pancreas. HP is most commonly found within the gastrointestinal tract, particularly the stomach through the jejunum. This report shares the case of a 57-year-old man who presented with persistent vomiting despite medical therapy. Given the nonspecific and broad differential diagnosis, a histopathological examination was warranted for a definitive diagnosis that showed a uniquely large and well-differentiated type I HP in the lesser curvature of the stomach. Resection was completed which was followed with resolution of symptoms.

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Schwannomas are benign nerve sheath tumors commonly found in the head, neck, vestibular system, and extremities. Primary hepatic schwannomas are exceptionally rare, with 34 cases reported to date according to our review of the literature. This case report describes a 79-year-old man with a medical history of skin and thyroid cancer, who presented with no clinical symptoms and underwent a follow-up MRI due to an initial scan indicating a suspicious hepatic mass resembling an atypical hemangioma. The MRI revealed a 3.6 cm left hepatic mass concerning for an intrahepatic cholangiocarcinoma. Histopathological and immunohistochemical studies of a biopsy of the liver mass confirmed the presence of a benign hepatic schwannoma. Further evaluation revealed multiple spinal schwannomas, leading to the diagnosis of schwannomatosis. The diagnosis of hepatic schwannomas poses challenges through imaging alone. This case underscores the importance of microscopic evaluation in accurately diagnosing hepatic masses. Additionally, the presence of concurrent schwannomas should be considered in patients initially diagnosed with isolated schwannomas.

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Esophagitis due to herpes simplex virus (HSV) infection is a rare entity in the immunocompetent population. It is usually seen in immunocompromised hosts, those with human immunodeficiency virus (HIV) infection, malignancies, and patients on immunosuppressive medications. We present a case of a young immunocompetent man with anabolic steroid use who presented with esophagitis symptoms found to be from HSV infection. So far, the use of corticosteroids has been reported as a predisposing factor for HSV esophagitis in immunocompetent hosts in multiple case reports. However, our case suspects that transient immunosuppression with similar medication can cause HSV esophagitis in otherwise immunocompetent hosts.

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Granular cell tumors (GCTs) are rare, typically benign, solitary neoplasms that can arise throughout the body, with reports of cases in the tongue, esophagus, colon, skin, vulva, and skeletal muscle, among others. Although GCTs are usually asymptomatic, esophageal GCTs can grow large enough to cause dysphagia. When developing the differential diagnosis for dysphagia, a broad consideration includes routine etiologies such as esophageal strictures, eosinophilic esophagitis, carcinoma, webs and rings, achalasia, and motility disorders, but GCTs may not readily come to mind. Due to their scarcity, this case report is presented to raise awareness of esophageal GCTs and emphasize key goals for diagnosing and managing this uncommon yet treatable cause of dysphagia. This case report details the clinical course of a patient presenting with a chief complaint of difficulty swallowing that was found to be caused by a subepithelial esophageal tumor discovered with esophagogastroduodenoscopy (EGD) and endoscopic ultrasound (EUS). Histopathological studies paired with immunohistochemical investigations of a tissue biopsy confirmed the etiology of the offending esophageal mass to be a GCT. The patient's dysphagia resolved after endoscopic mucosal resection of the GCT, and follow-up evaluations have remained negative for recurrence. This case highlights the esophageal GCT as an uncommon source of dysphagia and the need for EGD and EUS evaluations of subepithelial esophageal lesions accompanied by histopathological analysis for a definitive diagnosis of GCT.

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Intestinal polypoid lymphangiectasia is an uncommon disorder involving an improperly formed enteric lymphatic system. It is characterized by lymphatic vessel dilatation with impaired drainage or obstruction of the lymph from the intestine. In this report, we present a case of a 73-year-old male patient with chronic intermittent left lower quadrant abdominal pain for one year who was found to have a sigmoid colon polyp on a colonoscopy. Upon microscopic examination, the polyp revealed dilated lymphatic vessels staining strongly for D2-40 (lymphatic vessel marker), supporting the diagnosis of polypoid lymphangiectasia. Intestinal lymphangiectasia has a broad differential diagnosis, warranting histopathological examination for a definitive diagnosis.--------------.

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Chronic intractable diarrhea is a common presenting complaint that is often clinically worked up for a wide variety of diseases including inflammatory bowel disease, celiac disease, and hyperthyroidism. When lab results come back normal, patients are often diagnosed with irritable bowel disease-diarrheal subtype, overlooking the potential diagnosis of mastocytic enterocolitis. Mastocytic enterocolitis is an uncommon diagnosis where patients can benefit from mast cell stabilizers that directly target the underlying pathology. Given the broad differential diagnosis of nonspecific diarrhea presentation, a histopathological examination is warranted for definitive diagnosis. We hope to raise awareness of this potentially treatable disease that can be effectively managed with antihistamines. We describe the case of a 63-year-old male patient with a family history significant for colon cancer who presented with intractable diarrhea and was ultimately diagnosed with mastocytic enterocolitis by histopathology. His symptoms were relieved by antihistamine treatment.

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Low-grade appendiceal mucinous neoplasm (LAMN) is a lesion of the appendix with potentially fatal consequences if untreated. Though LAMN can be asymptomatic and stable, it can rupture and seed mucin and neoplastic epithelium into the peritoneum, leading to pseudomyxoma peritonei (PMP), a serious complication characterized by intraperitoneal accumulation of mucinous tumors and ascites with a high morbidity and mortality rate. Therefore, timely identification and treatment of LAMN are crucial for reducing PMP risk and improving prognosis and outcome. This case series sought to examine five LAMN cases and delineate the strategies for managing LAMN and progression to rupture and PMP.

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Chronic inflammation is known to be associated with pancreatic cancer, however a complete picture regarding how these pathologies intersect is still being characterized. In vivo model systems are critical for the study of mechanisms underlying how inflammation accelerates neoplasia. Repeat injection of cerulein, a cholecystokinin (CCK) analog, is widely used to experimentally induce acute and chronic pancreatitis in vivo. Chronic cerulein administration into genetically engineered mouse models (GEMMs) with predisposition to pancreatic cancer can induce a pro-inflammatory immune response, pancreatic acinar cell damage, pancreatic stellate cell activation, and accelerate the onset of neoplasia. Here we provide a detailed protocol and insights into using cerulein to induce pancreatitis in GEMMs, and methods to experimentally assess inflammation and pancreatic neoplasia.

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Epidermoid cysts are benign cystic lesions that are usually found in the skin. They can also be found in the organs of the gastrointestinal system. Here, we report a rare case of epidermoid cyst of the appendix which has been published in only three cases in the literature. They can be either congenital or acquired. Congenital epidermoid cysts are related to the inclusion of ectodermal elements at the time of neural groove closure. Acquired cysts are thought to be due to trauma or iatrogenic implantation of the epidermis in locations favorable to growth during surgery. Diagnosis is mainly by histopathological examination of the tissue sample. Complete excision of the cyst with the walls intact is considered curative.

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Pancreatic cancer is the fourth leading cause of cancer death. Existing therapies only moderately improve pancreatic ductal adenocarcinoma (PDAC) patient prognosis. The present study investigates the importance of the polyamine metabolism in the pancreatic tumor microenvironment. Relative mRNA expression analysis identified differential expression of polyamine biosynthesis, homeostasis, and transport mediators in both pancreatic epithelial and stromal cells from low-grade pancreatic intraepithelial neoplasia (PanIN-1) or primary PDAC patient samples. We found dysregulated mRNA levels that encode for proteins associated with the polyamine pathway of PDAC tumors compared to early lesions. Next, bioinformatic databases were used to assess expression of select genes involved in polyamine metabolism and their impact on patient survival. Higher expression of pro-polyamine genes was associated with poor patient prognosis, supporting the use of a polyamine blockade therapy (PBT) strategy for inhibiting pancreatic tumor progression. Moreover, PBT treatment of syngeneic mice injected intra-pancreatic with PAN 02 tumor cells resulted in increased survival and decreased tumor weights of PDAC-bearing mice. Histological assessment of PBT-treated tumors revealed macrophage presence and significantly increased expression of CD86, a T cell co-stimulatory marker. Collectively, therapies which target polyamine metabolism can be used to disrupt tumor progression, modulate tumor microenvironment, and extend overall survival.

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Pancreatic ductal adenocarcinoma (PDAC) has an extremely poor five-year survival rate of less than 10%. Immune suppression along with chemoresistance are obstacles for PDAC therapeutic treatment. Innate immune cells, such as tumor-associated macrophages, are recruited to the inflammatory environment of PDAC and adversely suppress cytotoxic T lymphocytes. KRAS and MYC are important oncogenes associated with immune suppression and pose a challenge to successful therapies. Here, we targeted KRAS, through inhibition of downstream c-RAF with GW5074, and MYC expression via difluoromethylornithine (DFMO). DFMO alone and with GW5074 reduced in vitro PDAC cell viability. Both DFMO and GW5074 showed efficacy in reducing in vivo PDAC growth in an immunocompromised model. Results in immunocompetent syngeneic tumor-bearing mice showed that DFMO and combination treatment markedly decreased tumor size, but only DFMO increased survival in mice. To further investigate, immunohistochemical staining showed DFMO diminished MYC expression and increased tumor infiltration of macrophages, CD86+ cells, CD4+ and CD8+ T lymphocytes. GW5074 was not as effective in modulating the tumor infiltration of total CD3+ lymphocytes or tumor progression and maintained MYC expression. Collectively, this study highlights that in contrast to GW5074, the inhibition of MYC through DFMO may be an effective treatment modality to modulate PDAC immunosuppression.

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Effective genetic diagnosis requires the correlation of genetic variant data with detailed phenotypic information. However, manual encoding of clinical data into machine-readable forms is laborious and subject to observer bias. Natural language processing (NLP) of electronic health records has great potential to enhance reproducibility at scale but suffers from idiosyncrasies in physician notes and other medical records. We developed methods to optimize NLP outputs for automated diagnosis. We filtered NLP-extracted Human Phenotype Ontology (HPO) terms to more closely resemble manually extracted terms and identified filter parameters across a three-dimensional space for optimal gene prioritization. We then developed a tiered pipeline that reduces manual effort by prioritizing smaller subsets of genes to consider for genetic diagnosis. Our filtering pipeline enabled NLP-based extraction of HPO terms to serve as a sufficient replacement for manual extraction in 92% of prospectively evaluated cases. In 75% of cases, the correct causal gene was ranked higher with our applied filters than without any filters. We describe a framework that can maximize the utility of NLP-based phenotype extraction for gene prioritization and diagnosis. The framework is implemented within a cloud-based modular architecture that can be deployed across health and research institutions.

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Müllerianosis of the urinary bladder is an extremely rare, benign condition defined by the presence of at least two of the three müllerian-derived components (endosalpinx, endometrium, and endocervix) in the lamina propria and muscularis propria of the urinary bladder. It frequently mimics neoplastic condition, either malignant or benign. Here, we present a case of cystic müllerianosis of urinary bladder, which was clinically thought to be a urinary bladder neoplasm.

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Light chain (AL) amyloidosis may present with the features of vasculitis, including giant cell arteritis (GCA). Similarities between GCA and AL-amyloidosis can potentially cause confusion in diagnosis, in which case, temporal artery biopsy (TAB) should be performed to make a definitive diagnosis. Herein we report a case of a bilateral anterior ischaemic optic neuropathy (AION), showing evidence of AL-amyloidosis on the temporal artery biopsy. A 75-year-old male with AL-amyloidosis secondary to monoclonal gammopathy of undetermined significance (MGUS) presented to our hospital for subacute painless progressive visual impairment. Based on his elevated inflammatory markers and his age, he was suspected to have giant cell arteritis. However, a temporal artery biopsy excluded GCA, and the Congo red staining was positive for amyloid deposition. This present case reveals that AL-amyloidosis may present with visual impairment, high inflammatory markers, and involvement of temporal arteries, concerning for GCA. TAB with Congo red staining is found to be crucial for making the correct diagnosis.

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Episcleritis, scleritis, and anterior uveitis are common clinical manifestations of ocular leprosy. Erythema nodosum leprosum (ENL) is an acute, exaggerated systemic immunological reaction that complicates the course of this chronic indolent disease. We present an ocular immunohistochemical study of severe form of ENL involving even the ciliary body and choroid resulting in the perforation of the globe on the initiation of anti leprosy therapy. We used CD-3, CD-68, S-100, and CD-20 for immunohistochemistry. It revealed plenty of CD-3-positive T-cells and CD-68-positive macrophages and a few S-100 and CD-20-positive cells. The inflammatory exudates stained positive for IgG and IgM. The diagnosis was ocular ENL.

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Arrhythmogenic right ventricular dysplasia (ARVD) is an underdiagnosed cardiomyopathy which commonly presents in young adults with ventricular tachycardia or sudden cardiac death. We report a case of ARVD presenting with features of acute ischemic cerebrovascular stroke. The suspicion of ARVD came only when the echocardiogram revealed dilatation and abnormal wall motion of the right ventricle in the presence of certain ECG findings consistent with ARVD. The diagnosis was later confirmed by cardiac MRI which is one of the most specific diagnostic tests for ARVD.

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Granulomatous mastitis (GM) is a rare benign chronic inflammatory process of the breast in reproductive aged females. Although considered idiopathic in many cases, it has been associated with other conditions. Herein we report a highly complex and interesting case of GM in a young female with Sjogren's syndrome. We also review the literature and discuss challenges pertaining to the management of patients with similar risk factors. According to our knowledge, this is the third case documenting the co-occurrence of GM and Sjogren's syndrome. We focus on the challenges and complications of GM in the context of an autoimmune disease. With evidence from our patient's disease course and support from the literature, we advocate the use of corticosteroids for GM to prevent complications in patients with additional risks factors such as an autoimmune disease.

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Granular cell tumors (GCT) are usually benign, soft tissue tumors that are mostly found in the oral cavity, skin, and subcutaneous tissue. GCTs in the gastrointestinal (GI) tract are mainly located in the esophagus. A 63-year-old male was referred to the gastroenterology clinic for a major complaint of six months of painless rectal bleeding. Laboratory results showed mild macrocytic anemia. He denied any prior colonoscopies and hence, a lower endoscopic procedure was done. The colonoscopy showed multiple polyps, one of them located at the cecum. The cecal polyp showed polygonal cells with abundant eosinophilic infiltration and S100 stain positive. This confirmed a diagnosis of GCT. GCTs are thought to be derived from the neural tissue (Schwann cells). This entity is usually asymptomatic; however, tumors located at the lower GI tract can present with hematochezia. Only 2% of GCTs follow a malignant course, with associated poor prognosis.  This case is being presented because of its asymptomatic nature. It is important to monitor these lesions in order to recognize early signs/symptoms concerning for malignancy.

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Hepatic splenosis was first described in 1939 and is a rare condition that results from splenic trauma or splenectomy. A 43-year-old man with a past medical history significant for a prior splenectomy was admitted to the hospital due to right upper quadrant pain for two days. Magnetic resonance imaging (MRI) of the abdomen suggested features of hepatic adenoma, however, a percutaneous biopsy showed the mass within the liver to be a discrete collection of splenic tissue, apparently the result of a traumatic splenic rupture years ago. Hepatic splenosis is a rare entity, and due to the asymptomatic nature of this condition, most cases are found incidentally after different imaging modalities are done. The management of this entity is based on conservative measures. We report this case to emphasize that in the appropriate clinical setting, hepatic splenosis should be considered in the differential diagnosis of a patient with a homogenous well-circumscribed liver mass.