Publication

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

APA

Leicher, L. W., Lammertink, M. H. A., Offerman, S. R., Morreau, H., de Jong, M. M., de Groot, J. W. B., ... Cappel, W. H. D. V. T. N. (2018). Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, 53(5), 632-636. https://doi.org/10.1080/00365521.2017.1406534

Author

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. de Vos Tot Nederveen. / Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice. In: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2018 ; Vol. 53, No. 5. pp. 632-636.

Harvard

Leicher, LW, Lammertink, MHA, Offerman, SR, Morreau, H, de Jong, MM, de Groot, JWB, van Westreenen, HL, Vasen, HFA & Cappel, WHDVTN 2018, 'Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice', SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, vol. 53, no. 5, pp. 632-636. https://doi.org/10.1080/00365521.2017.1406534

Standard

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. de Vos Tot Nederveen.

In: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, Vol. 53, No. 5, 2018, p. 632-636.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Leicher LW, Lammertink MHA, Offerman SR, Morreau H, de Jong MM, de Groot JWB et al. Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2018;53(5):632-636. https://doi.org/10.1080/00365521.2017.1406534


BibTeX

@article{a1012c8037704d5496ddfeffa9776b89,
title = "Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice",
abstract = "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.",
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",
author = "Leicher, {L. W.} and Lammertink, {M. H. A.} and Offerman, {S. R.} and H. Morreau and {de Jong}, {M. M.} and {de Groot}, {J. W. B.} and {van Westreenen}, {H. L.} and Vasen, {H. F. A.} and Cappel, {W. H. de Vos Tot Nederveen}",
year = "2018",
doi = "10.1080/00365521.2017.1406534",
language = "English",
volume = "53",
pages = "632--636",
journal = "SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY",
issn = "0036-5521",
publisher = "Taylor & Francis Group",
number = "5",

}

RIS

TY - JOUR

T1 - Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice

AU - Leicher, L. W.

AU - Lammertink, M. H. A.

AU - Offerman, S. R.

AU - Morreau, H.

AU - de Jong, M. M.

AU - de Groot, J. W. B.

AU - van Westreenen, H. L.

AU - Vasen, H. F. A.

AU - Cappel, W. H. de Vos Tot Nederveen

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

KW - MSI analysis

KW - colorectal cancer

KW - Lynch syndrome

KW - MMR protein expression

KW - MMR-deficiency

KW - colorectal surgery

KW - chemotherapy

KW - LYNCH-SYNDROME

KW - MICROSATELLITE-INSTABILITY

KW - ADJUVANT CHEMOTHERAPY

KW - PROMOTER HYPERMETHYLATION

KW - BETHESDA GUIDELINES

KW - COLON-CANCER

KW - MULTICENTER

KW - EFFICACY

KW - BENEFIT

KW - IMPACT

U2 - 10.1080/00365521.2017.1406534

DO - 10.1080/00365521.2017.1406534

M3 - Article

VL - 53

SP - 632

EP - 636

JO - SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

JF - SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

SN - 0036-5521

IS - 5

ER -

ID: 62902678