Breast cancer in a young woman with short stature: Which diagnosis not to miss

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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Capecitabine and folic acid: A lethal combination?

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


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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