ECE2016 Eposter Presentations Endocrine tumours and neoplasia (68 abstracts)
Genetic predisposition to breast cancer occurring in a male-to-female transsexual patient
Iulia Potorac 1 , Vinciane Corman 1 , Florence Manto 1 , Sarah Dassy 2 , Karin Segers 1 , Albert Thiry 1 , Vincent Bours 1 , Adrian F Daly 1 & Albert Beckers 1
1CHU Liege, Universite de Liege, Liege, Belgium; 2St-Nikolaus Hospital, Eupen, Belgium.
Introduction: Breast cancer affects less than 1% of all male cancer patients. In 5–20% of cases, genetic predisposition is involved, mostly due to mutations of the BRCA2 gene. Hormonal imbalance between oestrogens and androgens is another predisposing factor. Male-to-female (MtF) transsexual patients usually undergo long-term cross-sex hormone therapy, which could expose them to higher risks of developing hormonally-dependent cancers.
We report the case of a MtF transsexual patient diagnosed with breast cancer. A pathogenic BRCA2 mutation was found in the patient and their family.
Case report: Diagnosed with sexual identity dysphoria, the patient sought endocrine treatment at the age of 46 in order to start hormonal therapy. For 7 years, the patient was administered anti-androgens associated with oestrogens. The physical transformation was found satisfactory by the patient and the treatment was followed unremarkably. After 7 years, a routine mammography revealed a suspicious region with microcalcifications on the right breast. Biopsy was performed and the analysis found a high grade ductal in situ carcinoma without obvious signs of infiltration. Hormone therapy was interrupted and the patient underwent right mastectomy. A focally undifferentiated ductal carcinoma was found, estrogen and progesterone-receptors positive. 2 years later, local recurrence was diagnosed on the mastectomy scar.
Genetic analysis revealed the heterozygous c.9117G>A mutation of the BRCA2 gene. The same mutation was known in a kindred bearing the same family name as our patient and living in the same region.
Conclusion: This is the first report of breast cancer occurring in a MtF transsexual patient with a proven genetic abnormality. It raises awareness of the particular care required by MtF patients due to their modified hormonal environment.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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