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
SUMMARY
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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BJMO - volume 16, issue 2, march 2022
D. Naudts MD, L-A. Teuwen MD, J. Van Boven , H. Prenen MD, PhD, T. Vandamme MD, PhD, B. Van Overberghe MD, K. Forceville MD, M. Peeters MD, PhD
SUMMARY
5-Fluorouracil (5-FU) and its prodrug capecitabine are widely used and generally well-tolerated chemotherapeutic agents. Although leucovorin, a derivative of folic acid, is routinely used to potentiate the effect of 5-FU, there seems to be little to no awareness about a similar interplay between capecitabine and folic acid, a commonly used supplement. This study presents a case in which a high concentration of folic acid led to fatal capecitabine-related toxicity, with the aim to raise awareness on the interaction between folic acid supplementation and 5-FU/capecitabine treatment toxicity.
(BELG J MED ONCOL 2022;16(2):74–8)
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