Colorectal cancer in adolescents and young adults with Lynch syndrome: A Danish register-based study
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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.
Original language | English |
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Article number | e053538 |
Journal | BMJ Open |
Volume | 11 |
Issue number | 12 |
ISSN | 2044-6055 |
DOIs | |
Publication status | Published - 2021 |
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- cancer genetics, gastrointestinal tumours, molecular aspects
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ID: 304077900