Cellular Aberrations and Carcinogenesis

• Cellular aberrations refer to a group of disorders characterized by abnormal cell growth and the potential to metastasize

Cancer Defined

• The term "cancer" refers to a group of diseases where cells grow and spread unrestrained throughout the body
• The term "cancer" originates from the Latin word "crab"
• Neoplasm is a synonym for cancer
• Cancer is not a single disease with a single cause
• Cancer cells acquire invasive characteristics and change their surroundings

Carcinogenesis

• Carcinogenesis, also called oncogenesis or tumorigenesis, describes the formation of cancer
• Carcinogenesis is a process where normal cells transform into cancer cells, characterized by cellular, genetic, and epigenetic changes with abnormal cell division

Invasion and Metastasis

• Invasion happens when cancer cells infiltrate adjacent tissues around a neoplasm
• Differentiation refers to the process where cells develop specific structures to specialize in certain tasks
• Metastasis occurs when malignant cells travel through the blood or lymph to invade other tissues and organs, forming secondary tumors

Classification of Tumors

• Benign tumors are noncancerous growths; they grow slowly, have clear borders, and do not spread
• Malignant tumors describes active cancer cells, growing uncontrollably and invading nearby tissues with cells that tend to be highly abnormal

Chromosomal Aberrations in Children

• Chromosomal Aberrations involve structural or numerical changes in chromosomes, affecting autosomes and/or sex chromosomes

Numerical Aberrations

• Numerical Aberrations involve an abnormal number of chromosomes
• Trisomy is an extra chromosome
• Monosomy is a missing chromosome
• Down syndrome (trisomy 21) is a Numerical Aberration
• Turner syndrome (monosomy X) is a Numerical Aberration
• Klinefelter syndrome (XXY) is a Numerical Aberration

Structural Aberrations

• Structural Aberrations create changes to the structure of the chromosomes
• Deletions, duplications, translocations, inversions, and can disrupt gene function
• Disruption of gene function can cause genetic disorders

Gene Mutations

• Gene Mutations create changes the DNA sequence of a specific gene
• Altering the function of proteins encoded by the gene can result in various genetic disorders
• Cystic Fibrosis is caused by a mutation in the CFTR gene
• The mutation in the CTFR gene disrupts the transport of chloride ions, causing mucus buildup in the lungs and other organs
• Sickle Cell Anemia is caused by a mutation in the beta-globin gene
• The mutation in the beta-globin gene alters the shape of red blood cells, which affects efficiency of carrying oxygen
• Duchenne Muscular Dystrophy is caused by a mutation in the dystrophin gene, which disrupts muscle function

Background Chromosome Information

• Changes in chromosome structure or number are characteristic of cancer
• Numerical relates to changes in the number of chromosomes
• Structrual relates to changes in a specific part of a chromosome
• Deletion is when a portion of the chromosome is deleted
• Cri-du-chat Syndrome can be the result of a deletion
• Genetic material flipped is termed inversion
• Inversion does not often result in disease
• When part of a chromosome is duplicated, or has extra material, it is duplication
• Charcot-Marie-Tooth Disease type I can occur when part of a chromosome is duplicated
• Translocation occurs when a piece of one chromosome breaks off and attaches to another
• Translocation is a potential cause of trisomies

Common Chromosome Disorders

• Trisomy 21 results in Down Syndrome
• Trisomy 18 results in Edwards Syndrome
• Trisomy 13 results in Patau Syndrome
• Klinefelter Syndrome has a XXY genotype
• Turner Syndrome has a genotype of X

Genetic Factors related to Chromosomes

• Eating healthy
• Abstaining from smoking and alcohol
• Taking prenatal vitamins
• Genetic counseling can influence genetic traits

Causes of Cellular Aberrations

• Genetic Predisposition occurs when certain chromosomal aberrations are inherited
• Environmental Factors such as toxins, radiation, or viruses
• Errors during cell division, especially in older parents
• Unknown Causes do occur

Impact of Cellular Aberrations

• Developmental delays
• Physical Abnormalities
• Increased Risk of Cancer, such as leukemia
• Other Health Problems like immune deficiencies, endocrine disorders, and infertility

Diagnosis of Cellular Aberrations

• Karyotyping: Examines chromosomes to identify structural or numerical abnormalities
• FISH, Fluorescence In Situ Hybridization: Uses fluorescent probes to detect DNA sequences to identify deletions, duplications, or translocations
• SNP Array, Single Nucleotide Polymorphism Array: Analyzes genome-wide DNA sequences to identify copy number variations and other genetic changes

Treatment of Cellular Aberrations

• Genetic Counseling provides information and support to affected families
• Medical Management addresses the specific health problems associated with the aberration
• Surgery corrects certain physical abnormalities
• Stem Cell Transplantation replaces damaged bone marrow cells with healthy cells

Classification of Cancers

• Carcinoma forms in epithelial tissue, lining most organs and internal passageways, and skin
• Most cancers that affect skin, breasts, kidney, liver, lungs, pancreas, prostate gland, head and neck are carcinomas
• Sarcoma refers to cancers arising in the bones and soft tissues (muscle, fat, blood vessels, nerves, tendons, joints)
• Cancer starts in the soft tissue is defined as, soft tissue sarcoma
• Leukemia is cancer of the body's blood-forming tissues: bone marrow and lymphatic system
• Leukemia usually with white blood cells, where the cells don't function properly
• Lymphoma is cancer of the lymphatic system where healthy cells change and grow out of control
• Myeloma is cancer that forms in a type of white blood cell: plasma cells. Healthy plasma cells fight infections by making antibodies

Acute Lymphocytic Leukemia (ALL) in Children

• Acute lymphocytic leukemia is a cancer that affects the blood and bone marrow

Risk Factors for Acute Lymphocytic Leukemia

• Age
• Gender
• Family history
• Genetic Syndromes
• Previous cancer treatment contribute to likelihood of cancer

Signs and Symptoms of ALL

• Fatigue
• Fever
• Frequent infections
• Pale Skin
• Easy Bruising
• Bleeding
• Bone or Joint pain
• Swollen lymph nodes
• Abdominal discomfort
• Loss of appetite can indicate cancer

Diagnostic Testing

• Blood tests and Bone marrow biopsies are used to assess cancer
• Imaging testing is also used for diagnostics

Medical Intervention

• Chemotherapy
• aStem cell transplant are medical interventions

Surgical Intervention

• Surgical procedures and Central venous catheter insertion are surgical interventions

Nursing Intervention

• Pain management
• Monitoring vital signs
• Managing side effects of chemotherapy
• Preventing infection
• Nutrition support
• Emotional support
• Patient education
• Monitoring for complications

Retinoblastoma in Children Defined

• "Retino" is the light sensitive innermost part of the eye
• "Blastoma' refers to cancer
• Retinoblastoma is a malignant tumor that develops in the retina

Healthy Eye Components

• Sclera is the outer layer of the eye
• Retina is the nerve layer lining back of eye, senses light and creates impulses that travel to the brain
• Ciliary Muscle is located near edge of iris, assists with focus
• Iris is the colored part of the eye, constricts/dilates based on light exposure
• Cornea is the clear front window of the eye, admits and transmits light through
• Aqueous and vitreous humors are fluids in the eye
• Lens focuses the light rays onto retina

Function of Retina

• The retina makes a connection between light entering eyes and resulting images
• Special cells react to light and pass signals to the brain

Cancerous Eye Components

• Ciliary muscle
• Iris
• Cornea
• Aqueous humor
• Sclera
• Retina affected by cancerous cells
• Lens

Retinoblastoma causes

• Tumors develop from alteration of chromosome 13 along an autosomal dominant inheritance pattern
• Genetic mutations
• Sporadic and/or inherited retinoblastoma development

Retinoblastoma Risk Factors

• Genetic factors
• Age
• Genetic mutation

Retinoblastoma Pathophysiology

• Lnc RNA, miRNA, cire RNA, DNA methylation, and Histone Modification affect the development of Retinoblastoma

Retinoblastoma Clinical Presentation

• Strabismus
• Red Eye
• Leukocoria
• Orbital mass
• Shrunken Eyeball

Retinoblastoma Signs and Symptoms

• Leukocoria
• Strabismus
• Eye Pain and redness
• Bulging of the Eye
• Bleeding
• Blindness
• Weight loss can occur if cancer spreads behind the eye
• Vomiting can occur if cancer spreads behind the eye
• Low blood counts can occur if cancer spreads behind the eye
• Headache
• Lumps under the skin can occur if cancer spreads behind the eye

Eye Medical Surgical Management

• Cryosurgery freezes the tumor to destroy local cells to preserve partial vision
• Laser Surgery, or Photocoagulation, use laser surgery to destroy blood vessels supplying tumor
• Localized Radioactive Applicator are sutured to the sclera over the tumor

Retinoblastoma Treatments

• Chemotherapy is administered if the tumor has metastasized to shrink it
• Enucleation, surgical removal of the affected eye

Retinoblastoma Nursing Management

• Educate parents about the condition and treatment options
• Provide emotional support due to distress
• Assist with pre- and post-operative care
• Ensure follow up care to monitor recurrence and late treatment effects

Ewing’s Sarcoma in Children

• Ewing sarcoma is a type of bone cancer that mostly occurs in children and young adults
• It is the 2nd most common primary sarcoma
• Common in long bones, ribs, vertebral column, or pelvis
• It commonly occurs during teenagers to young adults
• More prevalent in young boys

Ewing Sarcoma Causes and Risk Factors

• Genetic mutation, specifically fusion of the EWS gene with another
• Most commonly occurs in children
• Males are slightly more prone to disease development
• Rarely, a family history of sarcoma/cancer increases the patient's risk

Ewing Sarcoma Progression

• Ewing sarcoma starts as a tumor in the femur
• Will metastasize to the lung

Ewing Sarcoma Signs and Symptoms

• Bone Pain – Persistent, worsens at night or with movement
• Swelling & Tenderness - Around the affected bone or soft tissue
• Lump or Mass – May be felt under the skin if near the surface
• Unexplained Fever – Recurring without infection
• Fatigue & Weakness – Feeling tired and lacking energy
• Weight Loss – Unintentional and noticeable over time
• Fractures - Bones become weak and break easily
• Limited Mobility – Difficulty moving if the tumor affects joints

Ewing Sarcoma Diagnosis

• Symptoms and physicals
• Xrays
• MRI
• CT Scan
• Bone Scan
• Tissue sample
• Genetic testing for related mutations

Ewing Sarcoma Treatment Options

• Chemotherapy (First-line treatment)
• Surgery (if feasible)
• Radiation Therapy
• Targeted Therapy & Immunotherapy (Experimental)

Ewing Sarcoma Nursing Interventions

• Pain Management
• Monitor Side Effects
• Prevent Infection
• Nutritional Support
• Emotional Support
• Mobility Assistance
• Family Education
• Follow-Up Care

Wilm's Tumor

• Wilms tumor is the most common kidney cancer in children under 5 years old
• Highly 90% treatable/survival rate
• Typically detected as a lump in the abdomen

Features of Wilm's Tumor

• Wilm's Tumor a cancerous tumor in the kidney, a result of abnormal cell growth
• Unilateral - 90% of cases, and therefore more likely than bilateral cases
• wilm's tumor can grow undetected, and spread

Causes of wilm's Tumor

• Genetic mutation affecting kidney cell development
• Genetic factors : WT1 and WT2 Gene mutation
• Risk factors related to genetics syndrome and family history
• WAGR
• Beckwithwiedemann syndrome
• Birth defects in urinary system

Pathophysiology of wilm's Tumor

• Fetal kidney cell fails to mature and cells multiply uncontrollably
• Tumor forms in the kidney which can compress other organs

Signs and Symptoms of wilm's Tumor

• Abdominal mass/swelling
• Hematuria -blood in urine
• High blood pressure
• Unexplained fever
• Weight loss, nussea, vomiting
• Fatigue or irritability

Stages of Wilm's Tumor

• Stage I – tumor is limited to the kidney and completely remove
• Stage II – tumor extend beyond the kidney but is fully removed
• Stage III – tumor spread to the nearby lypmh nodes or abdominal area
• Stage IV – tumor spread to the distant oragan (lung, liver, bones, brain)
• Stage V – tumor affects both kidneys (bilateral wilms tumor)

Wilm's Medical Treatment

• Surgery (Nephrectomy) - removal of the affected kidney
• Chemotherapy, which shrinks tumor and prevents spread
• Radiation therapy is used in advance cases

Wilm's Nursing Action

• Preoperative care : educate parents and child about surgery, monitor the Vital Signs
• Postoperative care: provide emotional support Watch for infection
• Educate on the side effects of nausea

Wilm's Psychosocial Therapy

• Play theraphy, explaining therapy to help children cope
• Provide counseling, support groups to support parents

General Liver Function

• Metabolism, detox, bile production, storage, and immunity are key duties

Liver Cancer in Children Overview

• Liver cancers refers to malignant growth of cells within the liver
• Hepatoblastoma, a type of liver cancer
• Hepatocellular carcinoma (HCC), a type of liver cancer

Hepatoblastoma

-Cancer forms in the tissues of the liver

• The most common type of childhood liver cancer
• Affects children younger than 3 years of
• Originates from immature liver cells (hepatoblasts) that are not fully developed

At Risk Genes & Liver Conditions of the Liver

• Beckwith-Wiedemann syndrome can cause liver conditions
• Familial adenomatous polyposis occurs
• Li-Fraumeni syndrome causes problems
• Hemihyperplasia occurs
• hemochromatosis is dangerous for liver
• Tyrosinemia, Alpha-1-antitrypsin deficiency, and viral hepatitis are harmful to the liver

Signs & Symptoms of Liver Cancer

• Abdominal Mass
• Abdominal Pain
• Jaundice
• Weight Loss
• Poor Appetite
• Fatigue
• Ascites
• Fever

Diagnosis of Liver Cancer

• Complete blood count (CBC), Liver function tests, Magnetic resonance imaging (MRI), CT scan, Ultrasound, Biopsy, and Laparascopy are ordered

Liver Cancer Staging

• Stage I: The tumor is confined to the liver and can be fully removed via surgery
• tumors has spread to nearby structures and be surgically removed
• Tumors has spread to nearby lymph nodes or large blood vessels, and thus surgery may be difficult
• The tumor has metastasized to distant organs

Treatments to Combat Liver Cancer

• Removal of the tumor if localized and operable is crucial in liver resection
• Tumors that are unresectable because of cirrhosis are treated to remove
• Often used to shrink the tumor and prevent it from ever even coming back
• Common drugs exist for cancer treatment

Treatments to Combat the Effects of Liver Cancer

• A consideration for tumors that cannot be completely removed or those associated with chronic liver diseases is a liver transplant

Liver Cancer Nursing Interventions

• Educate the family about upcoming surgery and after care
• Prepare child for possible surgery
• Monitor complications if bleeding
• Educate family about signs of infection of liver during surgery

Hodgkin's Lymphoma in Children

• Hodgkin's lymphoma (HL) in children is a type of cancer that originates in the lymphatic system
• It typically starts in the lymph nodes
• In Hodgkin's lymphoma, certain white blood cells multiply uncontrollably, forming tumors

At Risk Causes & Risk Genes

• Weakened Immune System, Age of 15-30, is common to have a high risk over 50
• There is a relation to commonality in males
• Having a close relative HL
• Infections with Epstein Barr-Virus can cause harm

Staging of Lymphoma

• One lymph node is affected
• 2 or more lymph nodes affected are one the same side of the diaphragm
• lymph nodes and areas of cancer
• The spread of the tumors in certain white blood cells may indicate stage 4

How Pathophysiology Affects Disease

• Genetic susceptibility
• Environmental associations

Hodgkins Signs & Symptoms

• Painless lymph nodes
• Fevers that can come and without symptoms
• Heavy Sweating
• Pruritus
• Fatigue

hodgkins Diagnosis

• Swollen white lymph nodes
• Magnets to make an image
• Xrays affect parts in the body from growing the blood cells
• Lumph note biopsy can detect infections

What Options Help Treat

• Medications
• Radiation
• Targeted therapy
• Drugs that attack specific proteins

Assessment During Long Term Care

• Monitor Progression
• Symptom management is important to remember
• Important side effects
• Long term symptoms

Cellular aberrations encompass disorders marked by abnormal cell growth and metastasis. Carcinogenesis, or oncogenesis, denotes cancer formation. This process involves normal cells transforming into cancerous ones through cellular, genetic, and epigenetic changes, leading to abnormal cell division, invasion, and metastasis.