Advanced breast cancer in a case of Down syndrome: Presenting a rare occurrence from Mankweng Hospital breast oncology clinic, Limpopo Province, South Africa

Abstract

Down syndrome is a genetic condition characterised by the presence of all or part of an extra chromosome 21 and is linked to a spectrum of medical and phenotypic features. Chromosome 21 is associated with tumour suppressor gene expression. Individuals with trisomy 21 have tend to have societal and hormonal risk factors for breast cancer. Here, we present a case of a 26-year-old female patient who presented at Mankweng Hospital breast oncology clinic with a left breast lump. She was born with downs syndrome and early on from birth was noted to have hypothyroidism and no other associated congenital defects. This young lady and her mother started noticing a lump in her left breast, which had been progressively growing over the past 2 years. It was not painful, was no associated with skin changes or nipple discharge and no axillary masses were noted.