Li-Fraumeni Syndrome Flashcards
What is Li-Fraumeni Syndrome?
A hereditary cancer predisposition syndrome characterized by a high risk of developing several types of cancer.
Which gene is primarily associated with Li-Fraumeni Syndrome?
TP53 gene.
What type of inheritance pattern does Li-Fraumeni Syndrome follow?
Autosomal dominant inheritance.
True or False: Li-Fraumeni Syndrome is inherited in an autosomal dominant manner.
True.
Fill in the blank: Individuals with Li-Fraumeni Syndrome have an increased risk of developing _____ cancers.
multiple.
What is a common feature of cancers in Li-Fraumeni Syndrome patients?
They often occur at young ages.
What is the approximate lifetime cancer risk for individuals with Li-Fraumeni Syndrome?
Up to 70-90%.
True or False: Men with Li-Fraumeni Syndrome can also develop breast cancer.
True.
A 28-year-old woman with a family history of breast cancer in her mother and a sarcoma in her maternal uncle undergoes genetic testing and is found to have a germline mutation in TP53. Which of the following cancers is she NOT at an increased risk for?
A) Adrenocortical carcinoma
B) Osteosarcoma
C) Brain tumor
D) Non-Hodgkin lymphoma
E) Breast cancer
Answer: D) Non-Hodgkin lymphoma
Explanation: Li-Fraumeni syndrome is associated with a germline TP53 mutation, predisposing to sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and leukemia. Non-Hodgkin lymphoma is not a common feature.
List three types of cancers commonly associated with Li-Fraumeni Syndrome.
Breast cancer, Adrenocortical carcinoma, sarcomas, and brain tumors.
Name a rare tumor associated with Li-Fraumeni Syndrome.
Choroid plexus carcinoma.
Fill in the blank: The most common sarcoma associated with Li-Fraumeni Syndrome is _____ sarcoma.
Osteosarcoma.
What is the average age of onset for breast cancer in women with Li-Fraumeni Syndrome?
About 30 years.
At what age do cancers typically arise in patients with Li-Fraumeni Syndrome?
Before the age of 30.
True or False: Li-Fraumeni Syndrome is linked to a single type of cancer.
False.
Fill in the blank: The risk of breast cancer in women with Li-Fraumeni Syndrome can be as high as _____ by age 40.
50%.
What is the role of the TP53 protein?
It is a tumor suppressor that regulates the cell cycle and prevents cancer formation.
Which of the following is the most appropriate screening modality for a patient with Li-Fraumeni syndrome?
A) Annual chest X-ray
B) Whole-body MRI screening
C) Annual mammography starting at age 30
D) Serum tumor markers every 6 months
E) PET scan every 5 years
Answer: B) Whole-body MRI screening
Explanation: Patients with Li-Fraumeni syndrome benefit from whole-body MRI screening to detect cancers early due to their high lifetime risk of malignancies.
What are the common screening recommendations for individuals with Li-Fraumeni Syndrome?
Regular physical exams, breast MRI, colonoscopy, and whole-body MRI.
True or False: Li-Fraumeni Syndrome is often diagnosed in childhood.
True.
Which family history factor is significant in diagnosing Li-Fraumeni Syndrome?
A family history of multiple cancers across generations.
True or False: Patients with Li-Fraumeni Syndrome have a normal life expectancy.
False.
What type of genetic testing is available for Li-Fraumeni Syndrome?
Testing for mutations in the TP53 gene.
What is the recommended approach for managing cancer risk in Li-Fraumeni Syndrome?
Increased surveillance and preventive measures.
What is the significance of the ‘three-generation rule’ in Li-Fraumeni Syndrome?
At least three family members with related cancers across three generations.
True or False: All individuals with a TP53 mutation will develop cancer.
False.
