Li-Fraumeni Syndrome Questions & Answers

Updated: Nov 13, 2018
  • Author: ; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Questions & Answers

Overview

What is Li-Fraumeni syndrome?

What is the pathophysiology of Li-Fraumeni syndrome?

What is the incidence of Li-Fraumeni syndrome?

What is the morbidity and mortality associated with Li-Fraumeni syndrome?

What are the racial predilections of Li-Fraumeni syndrome?

What are the sexual predilections of Li-Fraumeni syndrome?

Which age groups have the highest prevalence of Li-Fraumeni syndrome-related cancer?

Presentation

What is the focus of clinical history for the evaluation of Li-Fraumeni syndrome?

Which clinical history findings are characteristic of Li-Fraumeni syndrome?

Which physical findings are characteristic of Li-Fraumeni syndrome?

What causes Li-Fraumeni syndrome?

DDX

What are the differential diagnoses for Li-Fraumeni Syndrome?

Workup

What is the role of genetic testing in the workup of Li-Fraumeni syndrome?

Which cancer screenings should be performed in patients with Li-Fraumeni syndrome?

What is the role of MRI as a cancer screening tool in patients with Li-Fraumeni syndrome?

What is the efficacy of the Toronto protocol for cancer screening of patients with Li-Fraumeni syndrome?

Treatment

How is cancer treated in patients with Li-Fraumeni syndrome?

What is the role of surgery in cancer risk reduction of Li-Fraumeni syndrome?

Which specialist consultations are beneficial to patients with Li-Fraumeni syndrome?

Follow-up

What is included in the long-term monitoring of Li-Fraumeni syndrome?

How is breast cancer prevented in women with Li-Fraumeni syndrome?

What is the prognosis of Li-Fraumeni syndrome?

What is included in patient education about Li-Fraumeni syndrome?