Colorectal cancer in adolescents and young adults with Lynch syndrome: A Danish register-based study
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Colorectal cancer in adolescents and young adults with Lynch syndrome : A Danish register-based study. / Durhuus, Jon Ambæk; Therkildsen, Christina; Kallemose, Thomas; Nilbert, Mef.
In: BMJ Open, Vol. 11, No. 12, e053538, 2021.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Colorectal cancer in adolescents and young adults with Lynch syndrome
T2 - A Danish register-based study
AU - Durhuus, Jon Ambæk
AU - Therkildsen, Christina
AU - Kallemose, Thomas
AU - Nilbert, Mef
N1 - Publisher Copyright: ©
PY - 2021
Y1 - 2021
N2 - Objective To assess clinicopathological predictors and prognosis in early-onset colorectal cancer (CRC) in Lynch syndrome with comparison to patients diagnosed from age 40 and up. Design National, retrospective register-based case-control study. Setting Danish national hereditary CRC register. Participants Individuals with Lynch syndrome diagnosed with CRC from January 1950 to June 2020. The analysis was based on 215 early-onset CRCs diagnosed between 15 and 39 years of age and 574 CRCs diagnosed at age 40-88 years. Main outcome measures Clinical and histopathological characteristics and survival. Confounding variables were analysed by Cox analysis. Results 27.2% of the tumours in the Danish Lynch syndrome cohort were diagnosed under age 40. Disease-predisposing alterations in MLH1 and MSH2 were overrepresented in the age 15-39 cohort compared with patients diagnosed over age 40. CRCs diagnosed under age 40 showed an adverse stage distribution with 36.2% stage III-IV tumours compared with 25.8% in the over age 40 group. However, young patients diagnosed with early-stage tumours did have a significantly better prognosis compared with early-stage tumours in the older age group. Conclusions Early-onset CRC in Lynch syndrome is primarily linked to alterations in MLH1 and MSH2 and displays an adverse stage distribution. These observations serve as a reminder of surveillance, symptom awareness and rapid diagnostic handling of CRC in young adults with Lynch syndrome.
AB - Objective To assess clinicopathological predictors and prognosis in early-onset colorectal cancer (CRC) in Lynch syndrome with comparison to patients diagnosed from age 40 and up. Design National, retrospective register-based case-control study. Setting Danish national hereditary CRC register. Participants Individuals with Lynch syndrome diagnosed with CRC from January 1950 to June 2020. The analysis was based on 215 early-onset CRCs diagnosed between 15 and 39 years of age and 574 CRCs diagnosed at age 40-88 years. Main outcome measures Clinical and histopathological characteristics and survival. Confounding variables were analysed by Cox analysis. Results 27.2% of the tumours in the Danish Lynch syndrome cohort were diagnosed under age 40. Disease-predisposing alterations in MLH1 and MSH2 were overrepresented in the age 15-39 cohort compared with patients diagnosed over age 40. CRCs diagnosed under age 40 showed an adverse stage distribution with 36.2% stage III-IV tumours compared with 25.8% in the over age 40 group. However, young patients diagnosed with early-stage tumours did have a significantly better prognosis compared with early-stage tumours in the older age group. Conclusions Early-onset CRC in Lynch syndrome is primarily linked to alterations in MLH1 and MSH2 and displays an adverse stage distribution. These observations serve as a reminder of surveillance, symptom awareness and rapid diagnostic handling of CRC in young adults with Lynch syndrome.
KW - cancer genetics
KW - gastrointestinal tumours
KW - molecular aspects
U2 - 10.1136/bmjopen-2021-053538
DO - 10.1136/bmjopen-2021-053538
M3 - Journal article
C2 - 34911717
AN - SCOPUS:85122524776
VL - 11
JO - BMJ Open
JF - BMJ Open
SN - 2044-6055
IS - 12
M1 - e053538
ER -
ID: 304077900