Risk of metachronous colorectal neoplasm after a segmental colectomy in lynch syndrome patients according to mismatch repair gene status Conference Paper

   


Authors: Quezada-Diaz, F. F.; Hameed, I.; von Mueffling, A.; Salo-Mullen, E. E.; Catalano, J. D.; Smith, J. J.; Weiser, M. R.; Garcia-Aguilar, J.; Stadler, Z. K.; Guillem, J. G.
Title: Risk of metachronous colorectal neoplasm after a segmental colectomy in lynch syndrome patients according to mismatch repair gene status
Conference Title: 131st Annual Meeting of the Southern Surgical Association
Abstract: Background: Because of increased risk of metachronous colorectal cancer (CRC), all patients with Lynch syndrome (LS) are offered a total colectomy. However, because metachronous CRC rate by mismatch repair (MMR) gene is uncertain, and total colectomy negatively impacts quality of life, it remains unclear whether segmental resection is indicated for lower penetrance MMR genes. We evaluated metachronous CRC incidence according to MMR gene in LS patients who underwent a segmental colectomy. Study Design: Single-center, retrospective cohort study in patients with an earlier colectomy for CRC and an MMR germline mutation in MLH1, MSH2, MSH6, or PMS2 followed prospectively in a hereditary CRC family registry. All patients underwent surveillance colonoscopy. Metachronous CRC was defined as one detected more than 1 year after index resection. Primary end point was cumulative incidence of metachronous CRC overall and by MMR gene. Results: One hundred and ten patients were included: 35 with MLH1 likely pathogenic/pathogenic (LP/P) variants (32%), 42 MSH2 (38%), 20 MSH6 (18%), and 13 PMS2 (12%). Median follow-up 4.26 years (range 0.53 to 19.92 years). Overall, metachronous CRC developed in 22 patients (20%). At 10-year follow-up, incidence was 12% (95% CI 6% to 23%), with no metachronous CRC detected in patients with a PMS2 or MSH6 LP/P variant. Conclusions: After index segmental resection, metachronous CRC is less likely to develop in LS patients with MSH6 or PMS2 LP/P variant than in MLH1 or MSH2 carriers. Our data support segmental resection and long-term colonoscopic surveillance rather than total colectomy in carefully selected, well-informed LS patients with MSH6 or PMS2 LP/P variant. © 2020 American College of Surgeons
Keywords: child; preschool child; aged; primary tumor; major clinical study; conference paper; cancer staging; cancer incidence; colorectal cancer; cohort analysis; retrospective study; risk assessment; colonoscopy; mismatch repair; family history; colon resection; hereditary nonpolyposis colorectal cancer; total colon resection; germline mutation; human; male; female; priority journal; segmentectomy
Journal Title Journal of the American College of Surgeons
Volume: 230
Issue: 4
Conference Dates: 2019 Dec 8-11
Conference Location: Hot Springs, VA
ISBN: 1072-7515
Publisher: Elsevier Science, Inc.  
Date Published: 2020-04-01
Start Page: 669
End Page: 675
Language: English
DOI: 10.1016/j.jamcollsurg.2020.01.005
PUBMED: 32007537
PROVIDER: scopus
PMCID: PMC7104918
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85080052666&doi=10.1016%2fj.jamcollsurg.2020.01.005&partnerID=40&md5=82d4046c1c7763b8c850eafbe973ee5b
Notes: Conference Paper -- Export Date: 1 April 2020 -- Source: Scopus
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MSK Authors
  1. Jose Guillem
    414 Guillem
  2. Zsofia Kinga Stadler
    362 Stadler
  3. Martin R Weiser
    492 Weiser
  4. Erin E Salo-Mullen
    79 Salo-Mullen
  5. Julio Garcia Aguilar
    292 Garcia Aguilar
  6. Jesse Joshua Smith
    176 Smith
  7. Felipe Quezada
    17 Quezada
  8. Irbaz Hameed
    7 Hameed
  9. Alexa Daisy Von Mueffling
    1 Von Mueffling
  10. John David Catalano
    1 Catalano
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