JHG 2018 Scholarship Recipient, Hannah Giannini
Congratulations to our 2018 Jensen's Heart of Gold Scholarship recipient, Hannah Giannini. Hannah is ranked number three in her class, where she maintains a 4.4 GPA.
Hannah plans to attend the University of South Alabama, where she will major in Biochemistry and Molecular Biology in hopes of becoming a physician.
During the summer of 2017, Hannah was selected to intern at the University of South Alabama Mitchell Cancer Institute, where she studied the abnormal regulation of DNA and RNA in Leukemia.
Read Hannah's childhood cancer research paper on Neuroblastoma below.
Childhood Cancer Research Essay: Neuroblastoma
In its life cycle, a cell has various stages with checkpoints that signal when it is time for the cell to divide, die, or simply remain in interphase. These checkpoints ensure the cell - and human body - are functioning correctly. However, mutations can occur within a cell's DNA, causing the cell to override these checkpoints, thus resulting in the unregulated growth of cells. This unregulated growth is the underlying cause of cancer. The childhood cancer neuroblastoma is no exception. Neuroblastoma is a cancerous, sometimes malignant, solid tumor formed by immature neuroblast cells, accounting for 6% of all childhood cancer while it accounts for 50% of infant cancer.
In order to understand neuroblastoma, it is important to be familiar with the sympathetic nervous system - one of the systems that control involuntary bodily functions. As the spine forms during the fifth week of human development, neural crest cells move down both sides of the spine, and become neural cells. These neural crest cells also create the adrenal medulla which sits on top of the kidneys. The adrenal medulla produces hormone epinephrine (adrenaline). This hormone is secreted during high stress situations, and travels throughout the body, prompting the "flight or fight" response: an increase in blood pressure, heart rate, and metabolism. Once this stressful experience is finished, there is no longer a need for hormone epinephrine so it is broken down into metabolites which allows the hormone to escape the body. Together, these functions create the sympathetic nervous system.
However, neural crest cells can fail to turn (differentiate) into mature neural cells. In some cases, these neural crest cells will proliferate ( make copies of themselves), creating a huge mass of immature nerve crest cells somewhere on the sympathetic nervous system. These tumors usually occur on the adrenal medulla, along the spinal cord, or within the lungs, thus resulting in neuro blastoma.
Whenever a person has neuroblastoma, tissue around the tumor knows something is wrong so it will send out a cell signal called CXCL12 to call immune cells to the site. Although CXCL12 is supposed to tell immune cells to come, it also excites the neuroblastoma, and may even cause part of the tumor to break off and enter the bloodstream where it can spread to other areas of the body that are high in CXCL12 such as the bone marrow, lymph nodes, and liver. Two-thirds of the time, the cancer will move to other parts of the body.
The symptoms of neuroblastoma depend on the location of the tumor. For instance, bloating and a large hard mass occur in the abdomen if the tumor is located on the adrenal medulla while a tumor located near the chest causes difficulty breathing. A tumor located on the neck can lead to drooping eyelids, unequal pupils, and red skin while a tumor located on the spine leads to weakness, numbness, or partial paralysis.
Although neuroblastoma begins before birth, it is rarely seen during a baby's ultrasound. Usually to get a diagnosis and to cancel out other probable causes, doctors usually use urine tests, blood test, biopsies, CAT scans, and MRI's to determine if a child has neuroblastoma. These enable a doctor to determine the size and location of a tumor.
The prognosis and treatment for patients with neuroblastoma depends on the stage of the cancer. A Stage 1 tumor implies the mass is confined to one area and is completely removable. Stage 2A means either the tumor is in one location and all visible parts are removed, or the tumor is only in one location and completely removed during surgery, yet cancer cells may be in the lymph nodes. Stage 3 is where the tumor cannot be completely removed and has metastasized. Stage 4 is when the tumor spreads to distant lymph nodes. Patient survivability generally depends on the stage of the cancer, the age of the victim, and the presence of certain "oncogenes" ( a gene that when mutated can cause normal cells to become cancerous), such as the MYCN gene. For instance, children from 12-18 months who are diagnosed with neuroblastoma have a higher survivability rate. Cases that are considered "low risk" involve a tumor that is easily removable so surgery is usually the method of treatment. In "intermediate-risk" groups, small doses of chemotherapy are used because the tumor cannot completely be removed by surgery. Patients who are "high risk" have neuroblastoma that is aggressive and/or present in multiple areas of the body. This group requires a combination of chemotherapy, surgery, stem cell treatment, and radiation.
The causes of neuroblastoma are still unknown. Most times, it is caused from the mutation of a body cell, called sporadic neuroblastoma. Only about 1-2% of cases of neuroblastoma occur when the mutation is inherited, called familial neuroblastoma. Two genes that are thought to play a role in the progression of neuroblastoma are MCYN and PHOX2B. The gene MCYN is known to be amplified in neuroblastoma patients; this means they have additional copies of the gene. MCYN is an oncogene. Meanwhile, PHOX2B is a gene that helps with the differentiation of neural crest cells. However, if this gene is mutated, it will not be able to perform its role, resulting in an overabundance of immature nerve crest cells. Scientist are not sure how or why these mutations occur, and because this cancer is found in all environments and usually in children younger than ten, lifestyle does not play a factor in neuroblastoma.
Each year, over 600 children in the United States are diagnosed, and in 70% of these cases, the cancer has already metastasized. Each sixteen hours, a child dies of this disease, yet only 4% of federal government cancer research funding go towards studying pediatric cancers. Neuroblastoma is a tragic disease, and it requires more attention in order to find a cure.
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