Kidney Cancer Essay

What are the most common genetic/chromosome changes related to this form of cancer? Which genes are responsible? Where are these genes located? How are the genes different from normal individuals?

Imagine having an almost 100% chance of developing colon cancer. That is what people are told with Familial Adenomatous Polyposis (FAP) if they do not have their over 100 polyps, or growths, removed. FAP is a genetic disorder where normal cells that line your large intestine can grow into cancerous tumors. These tumors must be removed before they become cancerous. This disorder is passed down from parents on the APC gene which is on your fifth chromosome. If the APC gene is mutated you are more likely to develop these growths which lead to cancer in your lifetime. This disorder has an autosomal dominant inheritance pattern, which means if either parent has just one dominant mutated APC gene you have a 50% chance of inheriting it. Symptoms of FAP do not just include the growths in your colon. They can also include skin changes, osteomas or bone growths, and extra or missing teeth.

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene (Nookala et al., 2012; Nickerson et al., 2002; Menko et al., 2012; Hartman et a., 2009). BHD patients develop fibrofolliculomas and lung cysts increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax (Nookala et a., 2012; Menko et al., 2012; Hartman et al., 2009). The majority of the BHD patient population contain germline mutations in FLCN exon 11. BHD research predicts FLCN mutations to result in a protein truncation of its c-terminal end, thus, suggesting the cause for its loss-of-function (Nookala et al., 2012; Nickerson et al., 2002; Schmidt et al., 2005; Toro et al., 2008). Due to BHD patients sharing clinical similarities with patients expressing mutations in tumor suppressor, TSC1/2, such as: facial harmotomas and RCC, promotes FLCN to function as a tumor suppressor (Hartman et al., 2009). Even though researchers hypothesized folliculin as a tumor suppressor, its exact molecular function remains elusive.

Since Polycystic Kidney Disease is inherited, healthcare providers will review patient’s family history. They will also do a complete blood count (CBC) to look for anemia or signs of infection. Another test that will be ordered

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene [1–4]. Patients with BHD initially develop fibrofolliculomas, typically as benign facial tumors, and lung cysts; whereby, increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax [1,3,4]. The majority of the BHD patient population contain germline mutations in FLCN exon 11, a hotspot for disease causing mutations. BHD research predicts FLCN mutations to result in a protein truncation of its c-terminal end, thus, suggesting the cause for its loss-of-function [1,2,5]. Due to BHD patients sharing clinical similarities with patients expressing mutations in tumor suppressor, TSC1/2, such as:

Patients must have knowledge about the disease. They must be aware that polycystic kidney disease is an inherited or a genetic kidney disorder which impair the function of the kidney and has no cure. The patient should be informed that proper medical care and lifestyle changes can help manage the symptoms for years. Also, they may speak with a genetic counselor if they are planning to have children.

According to (Bennett, Rahbari-Oskoui, Chapman, Perrone, & Sheridan, 2014) ADPKD is the most common hereditary kidney disease, resulting 1 in every 400 to 1000 people; kidneys become

(Alan) c. Quote to support sub-topic #3: To diagnose kidney cancer, the doctor may take blood tests, urine tests, renal ultrasounds, MRI scans, CT scans, biopsy kidney tissue, and other exams. (Alan) d. Quote to support sub-topic #4: Treatment for this type of cancer can include removal of the cancerous part of the kidney only, removal of the cancerous tissue that has spread to other parts of the body, radiation therapy, chemotherapy, immunotherapy, and targeted therapy which includes using medication called tyrosine kinase inhibitors. (Alan) 5.

Renal cancer is the cancer of Kidney tissue cells, affecting the organs that help to filter and clean blood, and produce urine, and filter approximately two hundred quarts a day. The kidney organs also help to regulate blood pressure by producing hormones essential to its maintenance (WebMD.Com). Unlike other forms of cancer, renal cancer originates in the kidney cells and does not usually garner the same amount of national attention as breast, brain, and lung cancer, which are often given greater publicity (Kidney Cancer Association RSS). There are multiple types of renal cancer cells, such as the clear cancer cell, which makes up about seventy percent of all renal cancers. Other cell types includes the papillary kidney cancer cells, and

A urinary tract infection (UTI) can develop into a very uncomfortable and very bothersome condition. The urinary system consists of the kidneys, ureters, bladder, and/or urethra. These organs play an important role in filtering blood and eliminating waste from the body. The kidneys are a pair of small bean shaped organs located on both sides of the spine at waist level. They have several important functions in the body, including removing waste and excess water from the blood and eliminating them as urine. The ureters are responsible for carrying urine from the kidneys to the bladder. Lastly, the bladder. The bladder's walls relax and grow to store urine, and contract and compress to empty urine through the urethra. The urethra allows urine to pass outside the body.

Autosomal dominant polycystic kidney disease (ADPKD) is a result of one parent possessing the gene and passing it on to their offspring. The child will then have a 50% chance of passing the gene on to their child, and so on, for all generations that follow. The National Kidney Foundation states that approximately 90% of all PKD cases are dominantly inherited. With ADPKD, symptoms do not typically present until mid-life. The disease will progress as the years go on. The PDK Foundation states that “more than 50 percent of people with ADPKD will develop kidney failure by age 50” (PKD Foundation). The only options a person has at that point are dialysis or a kidney transplant.

Workplace exposure to certain chemicals: Exposure at workplace to certain chemicals used in the dry cleaning and metal working industries increase person’s risk of pancreatic cancer.

Bone scans and x-rays -- these tests look for spread of cancer to the bones.

Renal cell carcinoma or kidney cancer BM has been challenging to find the proper course of treatments since a large range of therapies have shown responses. There has yet to be specific biomarkers that can be identified for diagnostic purposes. Studies have shown that PI3K, AKT, and mTOR pathway are important in the development of renal carcinoma. These pathways will likely be the targets for therapy.

There is a pair of kidneys in the human body. They are situated towards the back of the body under the ribs, just at the level of the waist where one on either side of the body. Each kidney is composed of about one million units which are called nephrons and each nephron consists of two parts: a filter which is called the glomerulus and a tubule leading out from the nephron (Cameron 1999). According to Marshall and Bangert (2008) the kidneys have three major functions. Firstly, the kidneys are excretion of waste from plasma in the blood. The second function is that, they maintain of extracellular fluid volume and composition. Lastly, the kidneys have a role in hormone synthesis.