Li-Fraumeni Syndrome

Question 1

What is Li-Fraumeni Syndrome?

Answer 1

A hereditary cancer predisposition syndrome characterized by a high risk of developing several types of cancer.

Question 2

Which gene is primarily associated with Li-Fraumeni Syndrome?

Answer 2

TP53 gene.

Question 3

What type of inheritance pattern does Li-Fraumeni Syndrome follow?

Answer 3

Autosomal dominant inheritance.

Question 4

True or False: Li-Fraumeni Syndrome is inherited in an autosomal dominant manner.

Answer 4

True.

Question 5

Fill in the blank: Individuals with Li-Fraumeni Syndrome have an increased risk of developing _____ cancers.

Answer 5

multiple.

Question 6

What is a common feature of cancers in Li-Fraumeni Syndrome patients?

Answer 6

They often occur at young ages.

Question 7

What is the approximate lifetime cancer risk for individuals with Li-Fraumeni Syndrome?

Answer 7

Up to 70-90%.

Question 8

True or False: Men with Li-Fraumeni Syndrome can also develop breast cancer.

Answer 8

True.

Question 9

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 9

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.

Question 10

List three types of cancers commonly associated with Li-Fraumeni Syndrome.

Answer 10

Breast cancer, Adrenocortical carcinoma, sarcomas, and brain tumors.

Question 11

Name a rare tumor associated with Li-Fraumeni Syndrome.

Answer 11

Choroid plexus carcinoma.

Question 12

Fill in the blank: The most common sarcoma associated with Li-Fraumeni Syndrome is _____ sarcoma.

Answer 12

Osteosarcoma.

Question 13

What is the average age of onset for breast cancer in women with Li-Fraumeni Syndrome?

Answer 13

About 30 years.

Question 14

At what age do cancers typically arise in patients with Li-Fraumeni Syndrome?

Answer 14

Before the age of 30.

Question 15

True or False: Li-Fraumeni Syndrome is linked to a single type of cancer.

Answer 15

False.

Question 16

Fill in the blank: The risk of breast cancer in women with Li-Fraumeni Syndrome can be as high as _____ by age 40.

Answer 16

50%.

Question 17

What is the role of the TP53 protein?

Answer 17

It is a tumor suppressor that regulates the cell cycle and prevents cancer formation.

Question 18

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 18

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.

Question 19

What are the common screening recommendations for individuals with Li-Fraumeni Syndrome?

Answer 19

Regular physical exams, breast MRI, colonoscopy, and whole-body MRI.

Question 20

True or False: Li-Fraumeni Syndrome is often diagnosed in childhood.

Answer 20

True.

Question 21

Which family history factor is significant in diagnosing Li-Fraumeni Syndrome?

Answer 21

A family history of multiple cancers across generations.

Question 22

True or False: Patients with Li-Fraumeni Syndrome have a normal life expectancy.

Answer 22

False.

Question 23

What type of genetic testing is available for Li-Fraumeni Syndrome?

Answer 23

Testing for mutations in the TP53 gene.

Question 24

What is the recommended approach for managing cancer risk in Li-Fraumeni Syndrome?

Answer 24

Increased surveillance and preventive measures.

Question 25

What is the significance of the ‘three-generation rule’ in Li-Fraumeni Syndrome?

Answer 25

At least three family members with related cancers across three generations.

Question 26

True or False: All individuals with a TP53 mutation will develop cancer.

Answer 26

False.