Articles

Case-based illustrations of clinical flow and practical aspects of DPD-deficiency screening in Belgium

BJMO - volume 16, issue 3, may 2022

L. Crapé MD, K.P. Geboes MD, PhD, V. Casneuf MD, A.G. Verstraete MD, PhD, K.B.M. Claes PhD, M. van den Eynde MD, PhD, I. Borbath MD, PhD, Y. Verheezen MD, W. Demey MD, J. Van der Meulen MD, V. Haufroid PhD

SUMMARY

Fluoropyrimidines are frequently used as anti-cancer treatment for gastro-intestinal malignancies, breast, head and neck cancer and others. The enzyme dihydropyrimidine dehydrogenase (DPD) is crucial in the first and rate limiting enzyme step of 5-fluorouracil (5-FU) catabolism. Reduced or complete deficiency leads to severe and even fatal toxicity. The Belgian Group of Digestive Oncology (BGDO) has agreed upon a recommendation on screening for DPD deficiency before starting treatment, which was endorsed by the Belgian Society of Medical Oncology (BSMO), the College of Genetics (CG), and the Toxicological Society of Belgium and Luxembourg (BLT). This article focuses on the clinical flows and practical recommendations. Both targeted germline genotype testing and phenotyping are supported. It was suggested to use a stepwise approach, with a phenotype testing upfront because of higher sensitivity and lower societal cost. In patients with uracil levels above 14 ng/ mL, targeted germline genotype screening should follow. Fluoropyrimidines are contra-indicated in patients with complete DPD deficiency and starting dose recommendations have been validated for patients with partial deficiency.

(BELG J MED ONCOL 2022;16(3):119–24)

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Genetic testing in prostate cancer in clinical practice

BJMO - volume 15, issue 4, june 2021

R. de Putter MD, B. De Laere PhD, P. Ost MD, PhD, K.B.M. Claes PhD

SUMMARY

Mutations in DNA damage repair (DDR) genes are relatively common in prostate cancer (PC), and may guide therapy selection. Approximately half of somatic DDR mutations are also present in the germline and lead to a heritable cancer predisposition syndrome (CPS), which informs on future risk, prostate cancer prognosis, and therapeutic options. In germline carriers, genetic counselling is essential to help psychosocial coping and to provide pre-symptomatic testing in relatives, who upon carrier identification can opt for intensified surveillance or – in some cases – prophylactic surgery.

(BELG J MED ONCOL 2021;15(4):156-63)

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Genetic and molecular biology in pancreatobiliary cancers: Testing for pancreatobiliary cancer in the context of the Belgian NGS convention

BJMO - volume 15, issue 4, june 2021

Ir A. Hébrant PhD, H. Antoine-Poirel MD, PhD, K.B.M. Claes PhD, F. Dedeurwaerdere MD, J. Van der Meulen MD, F. Lambert MD, J. Van Huysse MD, G. Martens MD, PhD, N. D’Haene MD, PhD, K. Geboes MD, PhD, P. Pauwels MD, PhD, A. Jouret-Mourin MD, PhD, P. Peeters MD, M. van den Eynde MD, PhD, R. Salgado MD, PhD, P-J. Van Dam MD, P. Lefesvre MD, PhD, X. Sagaert MD, S. Metsu PhD, A. Demols MD, PhD, J-L. van Laethem MD, PhD

SUMMARY

Pancreatobiliary cancers (PBC) group pancreatic and biliary tract cancers and are among the cancers with the lowest survival rate. Emerging data suggest that novel biomarker-specific targeted therapies can be proposed for selected populations with survival benefit. This review summarises the scientific evidence to test for these biomarkers in order to optimise the management of pancreatobiliary cancers, within the context of the Belgian NGS convention.

(BELG J MED ONCOL 2021;15(4):170-6)

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