BJMO - volume 16, issue 4, june 2022
L. Depauw MD, J. Michielsen , K. Storm MSc, K. Forceville MD, N. Degrieck MD, S. Altintas MD, PhD, F. Lockefeer MD, J. van den Ende MD, K. Janssens MD
This article presents the case report of a 27-year old woman with a triple-negative ductal adenocarcinoma and distinct physical features, in whom Bloom syndrome was diagnosed. Bloom syndrome, a rare autosomal recessive genetic disorder caused by biallelic mutations in the BLM gene, is associated with a markedly increased risk of developing a variety of cancers at a young age (most commonly leukaemia, lymphomas and gastrointestinal tract tumours). Other clinical manifestations include proportional growth deficiency, microcephaly, a long narrow face, retro/micrognathia, photosensitive erythematous rash, endocrine disorders and fertility problems. The potentially life-threatening consequences of Bloom syndrome make early detection, diagnosis and thorough multidisciplinary follow-up of patients with this disease an essential matter.
(BELG J MED ONCOL 2022;16(4):191–5)
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