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Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice

Leicher, L. W., Lammertink, M. H. A., Offerman, S. R., Morreau, H., de Jong, M. M., de Groot, J. W. B., van Westreenen, H. L., Vasen, H. F. A. & Cappel, W. H. D. V. T. N., 2018, In : SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 53, 5, p. 632-636 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • L. W. Leicher
  • M. H. A. Lammertink
  • S. R. Offerman
  • H. Morreau
  • M. M. de Jong
  • J. W. B. de Groot
  • H. L. van Westreenen
  • H. F. A. Vasen
  • W. H. de Vos Tot Nederveen Cappel

Introduction: Mismatch repair deficiency (dMMR) can be found in Lynch syndrome (LS)-associated colorectal carcinoma and in 15% of sporadic colorectal cancer (CRC). Outcome of MMR-deficiency testing is important for surgical decisions as extended colectomy is recommended in young LS-patients with CRC. Moreover, the finding of a dMMR tumour has consequences for the choices of adjuvant chemotherapy as MMR-deficient CRC is resistant to 5-fluorouracil (5-FU) monotherapy. Aims of our study are to evaluate whether MMR-deficiency testing leads to (1) identification of LS, (2) change in surgical treatment and (3) adjustment of systemic therapy in patients with dMMR CRC.Methods: We performed a multicentre, retrospective study, in a community hospital and a University Medical Centre. We included all CRC-patients between 2012 and 2016 who were tested for microsatellite instability. We collected clinical data such as gender, age, referral to clinical geneticist, surgical procedure and choice of chemotherapy.Results: We analysed 225 CRCs. Twenty-four (10.7%) of 225 CRC were MMR-deficient. Of the 24 patients with dMMR CRC, 18 (75%) were referred to the clinical geneticist and in nine (37%) patients a MMR mutation was identified. In one (4%) of the 24 patients, a subtotal colectomy was performed. In seven (35%) out of 20 MMR deficient patients, the chemotherapy regimen was adjusted.Conclusions: The finding of a dMMR CRC had consequences for decisions on chemotherapy in a relative high proportion of patients. We recommend testing in all patients with CRC independent of age at diagnosis, as proper treatment decisions and genetic counselling are very important.

Original languageEnglish
Pages (from-to)632-636
Number of pages5
JournalSCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
Volume53
Issue number5
Publication statusPublished - 2018

    Keywords

  • MSI analysis, colorectal cancer, Lynch syndrome, MMR protein expression, MMR-deficiency, colorectal surgery, chemotherapy, LYNCH-SYNDROME, MICROSATELLITE-INSTABILITY, ADJUVANT CHEMOTHERAPY, PROMOTER HYPERMETHYLATION, BETHESDA GUIDELINES, COLON-CANCER, MULTICENTER, EFFICACY, BENEFIT, IMPACT

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