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
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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
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4 mins
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
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2 mins
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
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2 mins
Hemangioblastoma
Most often cerebellar
Associated with Von Hippel-Lindau
Retinal Angiomas
Can produce EPO
Secondary polycythemia
Foamy cells
High vascularity
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58 secs
Tuberous Sclerosis
Characteristics
Autosomal Dominant
Signs and Symptoms
Hamartomas in CNS and Skin
Phakoma
Intellectual Disability (Mental Retardation)
Seizures
Subependymal Giant Cell Astrocytoma
Adenoma Sebaceum
Shagreen Patch
Ash-leaf Spots
Renal Angiomyolipoma
Cardiac Rhabdomyoma
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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
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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
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2 mins
Sturge Weber Syndrome
Pathophysiology
GNAQ Gene
Signs and Symptoms
Port Wine Stain
Arterial Venous Malformation
Leptomeningeal Angiomas
Intellectual Disability (Mental Retardation)
Seizures
Pheochromocytoma
Glaucoma
Tram-Track Calcifications
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2 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
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2 mins
MEN 2B (Multiple Endocrine Neoplasia)
Pathophysiology
RET Gene
Autosomal Dominant
Signs and Symptoms
Medullary Thyroid Carcinoma
Pheochromocytoma
Marfanoid Body Habitus
Oral Ganglioneuromatosis
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55 secs
MEN 2A (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
RET Gene
Signs and Symptoms
Medullary Thyroid carcinoma
Calcitonin
Parathyroid
Pheochromocytoma
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44 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
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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
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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
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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
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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
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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
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2 mins
Li-Fraumeni's
Pathophysiology
Li-Fraumeni
autosomal dominant
TP53
Clinical
SBLA cancer syndrome
Sarcoma
Breast cancer
Leukemia
Adrenal tumors
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45 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
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2 mins

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