Korean J Lab Med.  2008 Dec;28(6):493-497. 10.3343/kjlm.2008.28.6.493.

Genetic Counseling Can Influence the Course of a Suspected Familial Cancer Syndrome Patient: From a Case of Li-Fraumeni Like Syndrome with a Germline Mutation in the TP53 Gene

• Hwang SM
• Lee ES
• Shin SH
• Kong SY

• KMID: 1781585
• DOI: http://doi.org/10.3343/kjlm.2008.28.6.493

Abstract

We report a 26-yr-old female patient with bilateral breast cancer who was clinically diagnosed with Li-Fraumeni like syndrome (LFL) and subsequently found to have a germline mutation of the TP53 gene. The patient was initially diagnosed with right breast cancer at age 24 yr and then with left breast cancer at age 25 yr. Surgery and radiotherapy were performed accordingly. The patient had a family history of various types of early onset cancers and was referred to a genetic counseling clinic. She was clinically diagnosed with LFL. Genetic analysis of the TP53 tumor suppressor gene was performed with the patient's consent. Direct sequencing of TP53 gene exons 5, 6, 8, 9, and 11 revealed a ermline missense mutation, resulting in an amino acid change from an arginine to a histidine (g.13203G>A, p.R175H). Considering the family history, individualized cancer surveillance was performed including a gastroscopy and a brain MRI. Even though the patient had not shown any neurological symptoms, a huge mass on the temporal lobe was incidentally found and the patient received surgery and radiotherapy. Although the residual mass required further treatment, the patient decided on supportive care alone and was discharged. We report a case of LFL, with a germline TP53 mutation, which was confirmed by gene sequencing in Korea. This case shows how genetic predisposition screening and counseling in patients, suspected of having a familial cancer syndrome, can influence the course of the patient.

Keyword

Li-Fraumeni syndrome; Li-Fraumeni like syndrome; TP53 gene; Genetic counseling

MeSH Terms

Adult
Amino Acid Substitution
Brain Neoplasms/radiotherapy/surgery
Breast Neoplasms/diagnosis/radiotherapy/surgery
Female
*Genetic Counseling
Genetic Predisposition to Disease
*Germ-Line Mutation
Humans
Li-Fraumeni Syndrome/*diagnosis/genetics/therapy
Mutation, Missense
Pedigree
Tumor Suppressor Protein p53/*genetics

Figure

• 

  Fig. 1. Pedigree of the Li-Fraumeni like syndrome family. Solid symbols represent individual with tumors. Types of tumors are indicated, with ages (yr) at the time of diagnosis and death (if applicable). Asterisk (∗) marks the individual analyzed and found to carry the germline TP53 mutation.

• 

  Fig. 2. TP53 gene sequencing analysis representing missense mutation of codon 175 (p.R175H).

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