Li-Fraumeni syndrome

Li-Fraumeni syndrome
Updated: 12/11/2018
© Jun Wang, MD, PhD

General features
  • Autosomal dominant
  • Young age onset of malignancy
  • Markedly increased risk of malignancies of different organs
  • High risk of breast cancer, brain tumors, acute leukemia, bone and soft-tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma
Genetic abnormalities
  • p53
Diagnostic criteria
  • A proband diagnosed with a sarcoma before age 45 years
  • A first-degree relative with any cancer diagnosed before age 45 years
  • Another first- or second-degree relative with any cancer diagnosed before age 45 years or a sarcoma diagnosed at any age
Li-Fraumeni–like syndrome criteria
  • Birch definition
A proband with any childhood cancer or sarcoma, brain tumor, or adrenocortical carcinoma diagnosed before age 45 years
A first- or second-degree relative with a typical Li-Fraumeni cancer (sarcoma, breast cancer, brain tumor, adrenocortical carcinoma, or leukemia) at any age
A first- or second-degree relative with any cancer before age 60 years
  • Eels definition
Two first- or second-degree relatives with Li-Fraumeni–related malignancies (sarcoma, breast cancer, brain tumor, leukemia, adrenocortical tumor, melanoma, prostate cancer, pancreatic cancer) at any age
Work up
  • Molecular studies for p53 mutation

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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas M
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Anemia

Anemia Updated: 07/13/2024 © Jun Wang, MD, PhD   General features Decrease in red cell mass Hemoglobin: Levels of hemoglobin in a specific volume of whole blood Hematocrit: Fraction of whole blood composed of red blood cells Red cell count: Quantity of red cell in a specific volume of whole blood Three major groups based on RBC sizes Microcytic Normocytic Macrocytic Three major causes Blood loss: acute or chronic Increased red cell destruction: hemolysis Reduced production: marrow failure due to genetic abnormality or nutritional deficiency Etiology Genetic abnormality Hemoglobinopathies RBC cytoskeletal abomorlities Enzyme abnormalities Fanconi anemia Nutritional deficiencies: iron, VB12, folate, general malnutrition Physical etiologies: trauma, burns, frostbite, prosthetic valves, etc Chronic diseases: chronic infections, neoplasia, autoimmune disorders, kidney or liver diseases, etc Infectious diseases: hepatitis, sepsis , malaria, etc
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Lymphoid neoplasms

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