Patient 5: heterozygous TP53 GV
Patient 5 was diagnosed with adrenocortical carcinoma (ACC) at 30 months
of age and MM of the scalp with posterior cervical LN metastatic disease
at age 7 years. She was treated with interferon alpha-2b and
Peginterferon Aplha-2b.6 The diagnosis of two primary
tumors prompted TP53 germline testing and revealed a de
novo single base pair substitution in exon 6, confirming a diagnosis of
Li Fraumeni syndrome (LFS). Patient 5 remains alive at age 21 years.