Faculty Mentor

Dr. Elaine Vanterpool

Download

Download Full Text (570 KB)

Description

Neuroblastoma is an aggressive childhood cancer of immature nerves. Less than 10% of neuroblastoma (NB) cases affect kids older than ten years of age. Adult occurrences of NB are extremely rare. Majority of neuroblastomas are caused by genetic alterations in neuroblasts that take place during a child's development, occasionally even prior to birth. More than 60% of survivors of long-term childhood cancer have chronic illnesses because of their treatment, and more than 25% have a serious or potentially fatal illness. Signs and symptoms of neuroblastoma include bone pain or a lump in the abdomen, neck, or chest. With today's methods of treatment, less than half of children with aggressive neuroblastoma will survive for more than five years. Surgery is an important part of treatment for children at intermediate risk, but it is rarely enough on its own. Chemotherapy is usually administered to children in intervals of 4 to 8 cycles, or 12 to 24 weeks, before or following surgery. Typically, doxorubicin, etoposide, carboplatin, and cyclophosphamide are the chemotherapy medications utilized. Surgery may be performed to remove any residual tumor if chemotherapy is administered beforehand. Normally, radiation therapy is not necessary unless the tumor is not responding well to chemotherapy or if the tumor is causing symptoms in a kid that needs immediate attention. It is unknown what triggers these permanent gene alterations. It's possible that these are only chance occurrences that often take place inside cells, with no outside factor. ALK or PHOX2B gene mutations are the cause of hereditary neuroblastoma. Genes include information on how body cells should operate. The growth, division, and death of nerve cells are regulated by the ALK and PHOX2B genes. New and advancing treatments are Proton therapy and MIBG. Proton therapy, often referred to as proton beam therapy, is a kind of radiation treatment in which positively charged atoms with high energy protons are used to harm the DNA of cancerous cells. This particular kind of cancer treatment is accurate, painless, and non-invasive. MIBG, a substance that sticks to and is absorbed by neuroblastoma cells, is chemically joined to 131I, a radioactive form of iodine. When this combination is given to neuroblastoma patients, the radioactive molecules are absorbed by neuroblastoma cells, killing them without causing too much damage to healthy cells nearby. The development of 131I-MIBG targeted radiopharmaceutical treatment for neuroblastoma patients with new diagnoses and relapses is being spearheaded by Cincinnati Children's Hospital. ALK receptor tyrosine kinase, a member of the receptor tyrosine kinase (RTK) family of proteins, is made using instructions derived from the ALK gene. A process known as signal transduction is used by receptor tyrosine kinases to transfer messages from the cell surface within the cell. The kinase binds to a comparable kinase (dimerizes) after being activated at the cell surface to start the process. Phosphorylation is the process by which the kinase is marked with a phosphate group, which is a cluster of oxygen and phosphorus atoms, following dimerization. Kinase activation occurs when phosphorylation occurs. Another protein within the cell may receive a phosphate group transfer from the active kinase, activating that protein accordingly. A signaling pathway's sequence of proteins carry on the activation. Numerous biological activities, including cell growth and division (proliferation) and maturation (differentiation), depend on these signaling pathways. ALK gene expression is linked to several diseases, such as lymphoma and neuroblastoma. ALK genes can mutate in non-small cell lung cancer anywhere in the body, but when they do so in a lung cell, the resultant kind of lung cancer is known as ALK-positive non-small cell lung cancer. The BRCA2 gene is a tumor suppressor that codes for a protein that aids in the repair of damaged DNA. It is among the genes most frequently impacted in cases of ovarian and breast cancer that run-in families. Cancer may arise from specific alterations in the BRCA2 gene, known as dangerous variations or mutations. Individuals who inherit deleterious mutations in this gene are more likely to develop many malignancies, including ovarian and breast cancers, among other cancer types

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Joshua Henry, Student Researcher

Investigating ALK, PHOX2B, and BRCA2 Gene in Relation to Neuroblastoma

Included in

Biology Commons

Share

 
COinS