Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions.

Autor: Vazzano J; Department of Pathology, The Ohio State University Wexner Medical Center, Optometry Clinic and Health Science Faculty Office Building, 1664 Neil Avenue, Suite 6100, Columbus, OH, 43210, USA. jennifer.vazzano@osumc.edu., Tomlinson J; Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Stanich PP; Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Pearlman R; Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Kalady MF; Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Chen W; Department of Pathology, The Ohio State University Wexner Medical Center, Optometry Clinic and Health Science Faculty Office Building, 1664 Neil Avenue, Suite 6100, Columbus, OH, 43210, USA., Hampel H; Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.; Department of Medical Oncology and Therapeutics Research, City of Hope National Medical Center, Duarte, CA, USA., Frankel WL; Department of Pathology, The Ohio State University Wexner Medical Center, Optometry Clinic and Health Science Faculty Office Building, 1664 Neil Avenue, Suite 6100, Columbus, OH, 43210, USA.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2023 Jan; Vol. 22 (1), pp. 71-76. Date of Electronic Publication: 2022 Jun 23.
DOI: 10.1007/s10689-022-00302-3
Abstrakt: Universal tumor screening (UTS) for Lynch syndrome (LS) on colorectal cancer (CRC) can be performed on biopsies or resection specimens. The advantage of biopsies is the chance to provide preoperative genetic counseling/testing (GC/T) so patients diagnosed with LS can make informed decisions regarding resection extent. We evaluated utilization of UTS on biopsies, percentage of patients with deficient mismatch repair (dMMR) who underwent GC/T preoperatively, and whether surgical/treatment decisions were impacted. We performed a retrospective review of medical records to assess CRC cases with dMMR immunohistochemical staining from 1/1/2017 to 2/26/2021. 1144 CRC patients had UTS using MMR immunohistochemistry; 559 biopsies (48.9%) and 585 resections (51.1%). The main reason UTS was not performed on biopsy was it occurred outside our health system. 58 (5%) of CRCs were dMMR and did not have MLH1 promoter hypermethylation (if MLH1 and PMS2 absent). 28/58 (48.3%) of dMMR cases were diagnosed on biopsy. Of those 28, 14 (50%) eventually underwent GC/T, and 7 (25%) had GT results prior to surgery. One of the 7 had incomplete documentation of results affecting their treatment plan. Of the remaining 6 with complete documentation, 5 underwent surgery and one was treated with immunotherapy only. Three patients elected a more extensive surgery. 6/28 (21.4%) dMMR patients identified on biopsy made an informed surgical/treatment decision based on their dMMR status/LS diagnosis. When applied, UTS on biopsy followed by genetic counseling and testing informs surgical decision-making. Process and implementation strategies are in place to overcome challenges to more broadly optimize this approach.
(© 2022. The Author(s).)
Databáze: MEDLINE
Externí odkaz: