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Li-Fraumeni syndrome

Summary of Li-Fraumeni syndrome
Li–Fraumeni syndrome is a rare autosomal dominant hereditary disorder that predisposes one to cancer. This syndrome is also known as the sarcoma, breast, leukemia and adrenal gland syndrome and is linked to germline mutations of the p53 tumor suppressor gene. p53 encodes a transcription factor that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from de novo mutations early in embryogenesis, or in one of the parent's germ cells.

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Genetics

Genetics

Population genetics
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

Assessments
Li-Fraumeni syndrome

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High Yield Notes
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Li-Fraumeni syndrome

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Questions

USMLE® Step 1 style questions USMLE

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A 25-year-old woman is referred to a surgeon for biopsies of multiple sites. She recently presented to her general practitioner for right knee pain that had been worsening over three months, and subsequent imaging revealed a mass in her right tibia and enlargement of her left inguinal lymph nodes. Her oncologist is highly suspicious for osteosarcoma and leukemia. Her medical history is negative for any congenital defects. The surgeon completes the biopsy, and sequence analysis of the tissues shows mutations in the TP53 gene resulting in defective p53. Which of the following is the most likely diagnosis?

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