Li-Fraumeni syndrome

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Li-Fraumeni syndrome

M2 Digestive & Endocrine

M2 Digestive & Endocrine

Anatomy of the abdominal viscera: Blood supply of the foregut, midgut and hindgut
Gastroesophageal reflux disease (GERD): Clinical
Gastroesophageal reflux disease (GERD)
Inflammatory bowel disease: Pathology review
Inflammatory bowel disease: Clinical
Helicobacter pylori
Esophageal cancer
Esophageal disorders: Clinical
Gastric cancer
Peptic ulcers and stomach cancer: Clinical
GERD, peptic ulcers, gastritis, and stomach cancer: Pathology review
Lymphomas: Pathology review
Colorectal cancer
Colorectal cancer: Clinical
Colorectal polyps and cancer: Pathology review
Anal conditions: Clinical
Meckel diverticulum
Zollinger-Ellison syndrome
Colorectal polyps
Familial adenomatous polyposis
Juvenile polyposis syndrome
Diverticular disease: Pathology review
Diverticular disease: Clinical
Diverticulosis and diverticulitis
Small bowel ischemia and infarction
Gastrointestinal bleeding: Clinical
Gastrointestinal bleeding: Pathology review
Sex cord-gonadal stromal tumor
Neurofibromatosis
Li-Fraumeni syndrome
Anatomy of the abdominal viscera: Pancreas and spleen
Anatomy of the abdominal viscera: Liver, biliary ducts and gallbladder
Gastric motility
Development of the gastrointestinal system
Elimination disorders: Clinical
Pediatric constipation: Clinical
Laxatives and cathartics
Hirschsprung disease
Bowel obstruction
Abdominal pain: Clinical
Peritonitis
Hernias: Clinical
Abdominal hernias
Gallstones
Gallstone ileus
Gallbladder disorders: Pathology review
Primary sclerosing cholangitis
Biliary atresia
Acute pancreatitis
Pancreatic secretion
Pancreatic cancer
Chronic pancreatitis
Pancreatitis: Pathology review
Pancreatitis: Clinical
Pancreatic pseudocyst
Gallbladder cancer
Acute cholecystitis
Chronic cholecystitis
Hepatitis
Non-alcoholic fatty liver disease
Chewing and swallowing
Carbohydrates and sugars
Fats and lipids
Proteins
Vitamins and minerals
Diarrhea: Clinical
Irritable bowel syndrome
Campylobacter jejuni
Clostridium difficile (Pseudomembranous colitis)
Clostridium botulinum (Botulism)
Escherichia coli
Salmonella (non-typhoidal)
Salmonella typhi (typhoid fever)
Shigella
Staphylococcus aureus
Vibrio cholerae (Cholera)
Yersinia enterocolitica
Mycobacterium avium complex (NORD)
Adenovirus
Norovirus
Rotavirus
Cytomegalovirus infection after transplant (NORD)
Cryptosporidium
Entamoeba histolytica (Amebiasis)
Giardia lamblia
Anisakis
Enterobius vermicularis (Pinworm)
Trichuris trichiura (Whipworm)
Ascaris lumbricoides
Ancylostoma duodenale and Necator americanus
Strongyloides stercoralis
Diphyllobothrium latum
Malabsorption syndromes: Pathology review
Malabsorption: Clinical
Tropical sprue
Whipple's disease
Antidiarrheals
Diabetes mellitus: Pathology review
Diabetes mellitus
Ketone body metabolism
Sleep apnea
Sleep disorders: Clinical
Pituitary gland histology
Adrenal gland histology
Congenital adrenal hyperplasia
Anatomy of the thyroid and parathyroid glands
Hyperthyroidism
Hyperthyroidism: Pathology review
Hyperthyroidism: Clinical
Hypothyroidism
Hypothyroidism: Pathology review
Hypothyroidism and thyroiditis: Clinical
Congenital adrenal hyperplasia: Clinical
Cushing syndrome
Cushing syndrome and Cushing disease: Pathology review
Cushing syndrome: Clinical
Graves disease
Hashimoto thyroiditis
Riedel thyroiditis
Thyroid cancer
Adrenal insufficiency: Pathology review
Adrenal cortical carcinoma
Pheochromocytoma
Adrenal masses: Pathology review
Sheehan syndrome
von Hippel-Lindau disease
Multiple endocrine neoplasia
Thyroid hormones
Thyroid nodules and thyroid cancer: Clinical
Toxic multinodular goiter
Subacute granulomatous thyroiditis
Cirrhosis
Viral hepatitis: Clinical
Autoimmune hepatitis
Primary biliary cirrhosis
Hepatitis A and Hepatitis E virus
Hepatitis C virus
Hepatitis D virus
Hepatitis medications
Leptospira
Rickettsia rickettsii (Rocky Mountain spotted fever) and other Rickettsia species
Brucella
Coxiella burnetii (Q fever)
Echinococcus granulosus (Hydatid disease)
Hepatocellular adenoma
Hemochromatosis
Wilson disease
Alpha 1-antitrypsin deficiency
Gaucher disease (NORD)
Cholestatic liver disease
Alcohol-induced liver disease
Benign liver tumors
Portal hypertension

Assessments

Flashcards

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CME Credits

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High Yield Notes

4 pages

Flashcards

Li-Fraumeni syndrome

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External References

First Aid

2024

2023

2022

2021

Adrenal carcinomas

Li-Fraumeni syndrome p. 220

Li-Fraumeni syndrome

osteosarcomas p. 469

tumor suppressor genes in p. 220

Summary

Li-Fraumeni syndrome (LFS) is a rare inherited genetic disorder. People with Li-Fraumeni syndrome have an increased risk of developing multiple malignancies, typically sarcoma, breast carcinoma, leukemia, and adrenocortical carcinoma cancer.

In this condition, cancers often develop cancer at a young age and people are also more likely to have multiple tumors than people without this syndrome. The cause of Li-Fraumeni syndrome is a mutation in the p53 tumor suppressor gene. This gene provides instructions for making a protein that regulates the cell cycle and prevents genomic mutations that might lead to these cancers.