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Published on: August 12, 2015
First case report of an adrenocortical carcinoma caused by a BRCA2 mutation
Nada El Ghorayeb1, Solange Grunenwald, Serge Nolet
1Division of Endocrinology Department of Pathology Division of Clinical Genetics, Department of Medicine and Research Center (CRCHUM), Centre hospitalier de l'Université de Montréal, Montreal, QC, Canada.
Background:
Adrenocortical carcinoma (ACC) may rarely be a component of inherited cancer syndromes such as Li-Fraumeni syndrome and Beckwith-Wiedemann syndrome. ACC caused by a BRCA2 mutation has never been reported.
Methods:
Nucleotide sequencing of BRCA2 in lymphocyte and tumoral DNA of a 50-year-old male who presented with an androgen-secreting ACC and a strong family history of breast, ovarian, and pancreatic cancers.
Results:
A germline BRCA2 2 bp heterozygous deletion at nucleotide 8765 (8765delAG) leading to a frameshift mutation (p.Glu2846GlyfsX23) was detected. Only the BRCA2 deleted allele was retained in the ACC tumoral DNA compared with the control DNA supporting a loss of heterozygosity in the tumor.
Conclusion:
This is the first reported case of a patient with ACC associated with a BRCA2 germline mutation. Loss of heterozygosity in ACC DNA suggests a causal link with the BRCA2 8765delAG mutation.
