Graciela Shared "Genetic/Hereditary Cancer Syndromes" - 20 Picmonics
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Genetic/Hereditary Cancer Syndromes
Pheochromocytoma
- Cause/Mechanism
- Adrenal Medulla Tumor
- Increased Catecholamines
- Assessment
- Episodic Hypertension
- Diaphoresis
- Abdominal or Chest Pain
- Interventions
- Surgery
- Antihypertensives
- Phenoxybenzamine
- Metyrosine (Demser)
- Considerations
- Do Not Palpate Abdomen
3 mins
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Von Hippel-Lindau Disease
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
2 mins
Hemangioblastoma
- Most Often Cerebellar
- Associated with Von Hippel-Lindau
- Retinal Angiomas
- Can Produce EPO
- Secondary Polycythemia
- Foamy Cells
- High Vascularity
59 secs
Tuberous Sclerosis
- Characteristics
- Autosomal Dominant
- Signs and Symptoms
- Hamartomas in CNS and Skin
- Phakoma
- Subependymal Giant Cell Astrocytoma
- Seizures
- Intellectual Disability (Mental Retardation)
- Adenoma Sebaceum
- Shagreen Patch
- Ash-leaf Spots
- Renal Angiomyolipoma
- Cardiac Rhabdomyoma
2 mins
Wilms' Tumor (Nephroblastoma)
- Cause
- Malignant Renal Tumor
- Assessment
- Abdominal Mass
- Hematuria
- Fever
- Hypertension
- Interventions
- Nephrectomy
- Chemotherapy
- Radiation
- Considerations
- Do Not Palpate Abdomen
- Children Under 5 Years Old
2 mins
Osteosarcoma
- Pathophysiology
- Osteogenic Sarcoma
- Peak incidence men 10-20 years old
- Metaphysis of Long Bones
- Knee Region
- Radiation
- Familial Retinoblastoma
- Paget's Disease
- Diagnosis
- Codman Triangle
- Sunburst Pattern from Elevated Periosteum
- Grave Prognosis
2 mins
Sturge Weber Syndrome
- Pathophysiology
- GNAQ Gene
- Signs and Symptoms
- Port Wine Stain
- Arterial Venous Malformation
- Leptomeningeal Angiomas
- Intellectual Disability
- Seizures
- Pheochromocytoma
- Glaucoma
- Tram-Track Calcifications
3 mins
MEN 1 (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- Menin Mutation (Tumor Suppression Gene)
- Chromosome 11
- Signs and Symptoms
- Pancreatic Endocrine Tumors
- Pituitary Tumors
- Parathyroid Adenomas
2 mins
MEN 2B (Multiple Endocrine Neoplasia)
- Pathophysiology
- RET Gene
- Autosomal Dominant
- Signs and Symptoms
- Medullary Thyroid Carcinoma
- Pheochromocytoma
- Mucosal Neuromas
- Marfanoid Body Habitus
2 mins
MEN 2A (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- RET Gene
- Signs and Symptoms
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
45 secs
Gardner Syndrome
- Pathophysiology
- Familial Adenomatous Polyposis (FAP) with Extraintestinal Benign Growths
- Autosomal Dominant
- APC Gene Mutation
- Extraintestinal and Benign Manifestations
- Desmoid Tumors
- Nasal Angiofibromas
- Osteomas
- Congenital Hypertrophy of Retinal Pigment Epithelium (CHRPE)
- Dental Abnormalities
- Cutaneous Lesions
- Adrenal Adenomas
- Associated Malignancies
- Thyroid Cancer
- Duodenum/Periampullary Cancer
- Pancreatic Cancer
- Hepatoblastoma
Gardner Syndrome
- Familial Adenomatous Polyposis
- Impacted and supernumerary teeth
- Congenital hypertrophy of the retinal pigment epithelium
- Osseous and soft tissue tumors
- Fibromas of the retroperitoneum
- Epidermal cysts
- Autosomal Dominant
- Thyroid Cancer
Familial Adenomatous Polyposis (FAP)
- Pathophysiology
- Autosomal Dominant
- Mutation on Chromosome 5
- APC Tumor Suppressor Gene Mutation
- Overexpression of β-catenin
- Two-Hit Hypothesis
- manifestations
- Postpubertal Appearance of Thousands of Polyps
- Always Involves Rectum
- Pancolonic
- Associations
- Hepatoblastoma
- Most Patients Develop Colorectal Carcinoma (CRC) by 40 years of age
- Interventions
- Prophylactic Colectomy
3 mins
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
- Characteristics
- Autosomal Dominant
- Defective DNA Mismatch Repair
- 80% Risk of Colon Cancer Development
- Proximal (Right) Colon
- Type II associated with Endometrial, Ovarian and Skin Cancers
- 3-2-1 Rule
- 3 Relatives with Colon Cancer
- Occurs Across 2 Generations
- 1 Relative Diagnosed < 50 Years Old
- Treatment
- Frequent Screening
- Colectomy
3 mins
Turcot Syndrome
- Pathophysiology
- Autosomal Dominant or Autosomal Recessive
- Colonic Polyposis and a Malignant Central Nervous System Tumor
- Associations
- Increased Risk of Colorectal Cancer
- Increased Risk of Brain Cancer
- Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
- Glioblastoma Multiforme
- Familial Adenomatous Polyposis (FAP)
- Medulloblastoma
3 mins
Xeroderma Pigmentosum
- Pathophysiology
- Defective Nucleotide Excision Repair
- Complications
- Extreme Light Sensitivity
- Dark Freckles on Skin
- Pale, Dry Skin
- Susceptible to UV Rays A and B
- Corneal Ulcers
- Increased Risk of Skin Cancer
- Some Patients Present Progressive Neurodegeneration
2 mins
Li-Fraumeni's
- Pathophysiology
- Li-Fraumeni
- autosomal dominant
- TP53
- Clinical
- SBLA cancer syndrome
- Sarcoma
- Breast cancer
- Leukemia
- Adrenal tumors
46 secs
Ataxia Telangiectasia
- Pathophysiology
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Signs & Symptoms
- Cerebellar defects
- Spider Angiomas
- Sensitive to Radiation
- Defective Tumor Suppressor Gene
- Increased risk of Cancer, Leukemias, and Lymphomas
- Increased AFP levels
- IgA deficiency
- Repeated sinopulmonary infections
2 mins
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