Schwannomas are tumors formed by proliferation of dedifferentiated Schwann cells. Patients with neurofibromatosis 2 (NF2) and schwannomatosis develop multiple schwannomas in peripheral and cranial nerves. Although benign, these tumors can cause extreme pain and compromise sensory/motor functions, including hearing and vision. At present, surgical resection is the main treatment modality, but it can be problematic because of tumor inaccessibility and risk of nerve damage. We have explored gene therapy for schwannomas, using a model in which immortalized human NF2 schwannoma cells expressing a fluorescent protein and luciferase are implanted in the sciatic nerve of nude mice. Direct injection of an adeno-associated virus (AAV) serotype 1 vector encoding caspase-1 (ICE) under the Schwann-cell specific promoter, P0, leads to regression of these tumors with essentially no vector-mediated neuropathology, and no changes in sensory or motor function. In a related NF2 xenograft model designed to cause measurable pain behavior, the same gene therapy leads to tumor regression and concordant resolution of tumor-associated pain. This AAV1-P0-ICE vector holds promise for clinical treatment of schwannomas by direct intratumoral injection to achieve reduction in tumor size and normalization of neuronal function.
Malignant ascites in prostatic acinar adenocarcinoma is very rare. We present an 84-year-old man with a rare malignant ascites due to prostatic adenocarcinoma demonstrating hepatoid differentiation by immunohistochemistry. The patient was diagnosed with the malignant ascites due to metastatic prostatic adenocarcinoma. We identified the unique cytological feature of envelopment of tumour cell clusters by benign mesothelial monolayers.
Introduction/Objective Gastric carcinoma with lymphoid stroma (GCLS) is a distinct and rare histologic subtype of gastric adenocarcinoma that is characterized by undifferentiated carcinoma mixed with prominent lymphoid cell infiltration. Around 80% of GCLS cases are associated with Epstein-Barr virus (EBV) infection. Here we report a case of EBV-negative GCLS. Methods The patient was a 79-year-old female with a recent history of abdominal distention, weight loss, and gastrointestinal bleeding who presented for evaluation. Endoscopy found a 4.6 mm lobulated lesion at the incisura of the stomach with endosonographic evidence of invasion through the submucosa. Biopsy was consistent with intramucosal diffuse neoplasm, favoring adenocarcinoma. The decision was made to do subtotal gastrectomy. Results The patient underwent distal gastrectomy with Billroth 2 reconstruction. Gross examination of the stomach revealed a firm 1.4 cm nodule in the background of diffuse mucosal granularity in the adjacent stomach. Microscopically, the tumor invaded the submucosa without lymph nodes involvement. Staining showed the tumor diffusely positive for CAM5.2, focally and weakly positive for pancytokeratin and CK7, while negative for CK20. Mismatch repair (MMR) proteins staining demonstrated a loss of nuclear expression of MLH1 and PMS2. Her2/Neu FISH was non-amplified. The tumor was found to be EBV negative by EBER ISH while PD-L1 was expressed. The histopathological findings confirmed the final diagnosis of gastric carcinoma with lymphoid stroma (GCLS). Conclusion We report a case of GCLS that was EBV negative with non-amplified HER2, while MMR-deficient, and PD-L1 positive. These results suggest that this tumor subtype may be less responsive to targeted therapy, but show susceptibility to immune checkpoint inhibitors.
Background Anti-Augustine antigen (Ata) is a high-prevalence RBC antigen, and anti-Ata is an extremely rare RBC alloantibody. Anti-Ata is usually produced by an Ata (–) individual after alloimmunization by transfusion or during a pregnancy and is associated with immediate or delayed hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. We report the detection of a unique antibody to an antigen of high incidence, the anti-Ata. Case Presentation The patient was a 26-year-old African American pregnant female G7P2042 with a medical history of beta-thalassemia trait, presented at her second trimester for evaluation of abdominal cramping. The patient has had two prior ectopic pregnancies, managed surgically, and two healthy children delivered vaginally with no obstetric or congenital complications. She was treated for a pulmonary embolism a few months before while she was on OCPs. She had no prior transfusions. She also had anemia (RBC 4.1 × 1012/L, Hgb 9.7 g/dL, Hct 29.6%, MCV 72.2 fL). The patient’s blood sample was sent for type and screen, and it came positive for anti-Ata antibody. This test was performed at Memorial Blood Centers (a reference lab) and Kaleida Health Laboratories. The phenotype of our patient was c+ E+ e+ k+ Kpb+ Jsb+ Jka+ M+ N+ s+ U+ Lub+. The baby was followed with serial fetal middle cerebral arterial (MCA) Doppler assessment, without evidence of fetal anemia. The term infant was delivered by cesarean section without complications. Currently, both mother and baby are doing well. Conclusion Although anti-Ata is unlikely to cause hemolytic disease of the newborn, it is important to ensure that compatible blood is available should the mother require transfusion postdelivery.
Objectives Opsoclonus myoclonus syndrome (OMS) is a very rare neurological disorder of probably autoimmune origin. Glutamic acid decarboxylase antibody (GAD-Ab) is one of many antibodies that have been associated with OMS. Common treatments include intravenous immunoglobulin (IVIG) and corticosteroids. To our knowledge, this is the fourth case of GAD-Ab-positive OMS reported and the first one responsive to plasma exchange (PLEX). Clinical Presentation The patient is a 77-year-old male who presented with new-onset tremors and gait disorder. He had been diagnosed with OMS and positive GAD-Ab 2 years ago. At the time of diagnosis, his condition was not responsive to IVIG or corticosteroids and seemed to improve following PLEX. He made a near full recovery and was prescribed a low dose of mycophenolate. The patient reported worsening in tremor and gait over the last several days. This was the first time he had signs of clinical relapse since diagnosis. His labs were notable for hyponatremia, elevated glucose, and acute kidney injury. Brain CT showed intracranial atherosclerosis and age-indeterminate generalized cortical atrophy, perhaps due to chronic microangiopathic white matter changes. GAD-Abs assessed on this admission were zero (normal is less than 5), whereas they were 143 before treatment 2 years ago, although no GAD-Ab titer was measured after PLEX. The patient received five sessions of PLEX with overall improvement. Conclusion We reported a rare case of OMS with positive GAD-Ab who responded to PLEX. GAD-Ab may be a predictive marker of patient symptoms and is recommended to be measured in patients with OMS before and after treatment.
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