Renal Cell Carcinoma Presenting as Syncope due to Saddle Pulmonary Tumor Embolism

Pulmonary embolism (PE) is defined as the obstruction of the pulmonary artery or one of its branches by a blood clot, tumor, air, or fat emboli originating elsewhere in the body. A saddle PE occurs when the obstruction affects the bifurcation of the main pulmonary artery trunk. We present a case of a 46-year-old man who presented to our hospital due to an episode of syncope. Computed tomography angiography (CTA) of the chest showed extensive PE and abdominal CT scan showed a large 8 cm left renal mass with inferior vena cava (IVC) thrombus. Emergent embolectomy, left total nephrectomy, and IVC tumor removal were performed yielding the diagnosis of clear cell renal cell carcinoma (RCC). Interestingly, our patient did not experience any symptoms related to his RCC until the diagnosis of PE due to syncope, and the asymptomatic tumor was found out to be the possible cause of this PE due to the presence of tumor cells constituting the tumor embolus. It is thus recommended to improve the early screening process for RCC. Besides, clinicians should pay attention to patients presenting with uncharacteristic symptoms of RCC who might present with symptoms of saddle PE

Novel <i>ATM</i> Gene c.5644 C > T (p.Arg1882*) Variant Detected in a Patient with Pancreatic Adenocarcinoma and Two Primary Non-Small Cell Lung Adenocarcinomas: A Case Report

Ataxia-telangiectasia is an autosomal recessive disorder that usually manifests in childhood due to mutations in the Ataxia-Telangiectasia Mutated (ATM) gene. It is believed that there is an association between this gene mutation/polymorphism and cancer risk, including breast, lung, and pancreatic cancers. We report a rare case of a 69-year-old woman who developed three different primary cancers, including non-small cell lung cancer (NSCLC) in both lungs and pancreatic adenocarcinoma, and was later found to have a rarely reported variant mutation in the ATM gene, namely Exon 39, c.5644 C > T. We hypothesize that the ATM gene, c.5644 C > T mutation could be a plausible contributor in the pathogenesis of these three cancers. This hypothesis has yet to be validated by larger studies that focus on a mechanistic approach involving DNA repair genes such as the ATM. More importantly, this paves the way to developing new patient-specific targeted therapies and inaugurating precision medicine as a cornerstone in cancer therapeutics

Regulatory Science Transparency: Assessment Of Environmental Protection Agency’s Proposed Rule on Strengthening Transparency in Regulatory Science

In its proposed rule, Strengthening Transparency in Regulatory Science, the Environmental Protection Agency (EPA) requires transparency in certain areas of regulatory science. The proposed rule mandates public access to the details of studies that address dose response and models. This paper is the result of a study conducted by graduate students at Georgetown University. The study relied upon a specific process for selecting a small number from an exceptionally large number of responses to study the subject. The evaluation of the responses was largely based on Best Available Regulatory Science (BARS) and Metrics for Evaluation of Regulatory Science Claims derived from BARS. The results of the study indicate that opposition to the EPA's proposed rule is largely based on the claim that its implementation would eliminate key studies that contain confidential data from consideration during the regulatory process. Although the proposed rule would allow exemptions from the public access requirements, there is opposition to making exemptions available at the discretion of the EPA Administrator. The study concluded that a regulatory science process called "controlled transparency" would be a reasonable solution to compliance with transparency requirements while protecting confidential information.https://doi.org/10.21423/jrs-v07moghiss