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Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome
Background: Lynch syndrome is a hereditary disorder, with a very high risk of the developing colorectal cancer (CRC) and a predilection to develop other cancers, including upper tract urothelial carcinoma (UTUC) that has an estimated lifetime risk of 0.2-25%, above that of the general population. Ou...
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| Format: | Thesis |
| Language: | English |
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Division of General Surgery
2022
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| _version_ | 1867613209215631360 |
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| access_status_str | Open Access |
| author | Pluke, Kent David |
| author2 | Kaestner, Lisa-Ann |
| author_browse | Kaestner, Lisa-Ann Pluke, Kent David |
| author_facet | Kaestner, Lisa-Ann Pluke, Kent David |
| author_sort | Pluke, Kent David |
| collection | Thesis |
| description | Background: Lynch syndrome is a hereditary disorder, with a very high risk of the developing colorectal cancer (CRC) and a predilection to develop other cancers, including upper tract urothelial carcinoma (UTUC) that has an estimated lifetime risk of 0.2-25%, above that of the general population. Our aim was to assess the prevalence of UTUC in a Lynch syndrome cohort undergoing screening for CRC, to determine the need for a UTUC screening program. Methodology: Lynch syndrome patients were screened with urine dipstix for microscopic haematuria. Patients with confirmed microhaematuria were offered urine cytology, microscopy and culture, ultrasound (US) of their upper tracts and flexible cystoscopy. Results: Of the 89 patients screened, 86 had an MLH1 mutation and 2 had an MSH2 mutation. Eleven of the 12 patients who had microscopic haematuria were female. 10 patients had urinary tract infections. One patient had follicular cystitis and another had a simple renal cyst. No patients had hydronephrosis on ultrasound. All urine cytology specimens were negative for malignancy. Conclusion: No cases of UTUC were detected in our cohort during this study. A more rational screening protocol in this group may be to screen patients for UTUC with known MSH2 mutations at an earlier age (over 35). |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/35501 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:32:29.432Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | Division of General Surgery |
| publisherStr | Division of General Surgery |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/35501 Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome Pluke, Kent David Kaestner, Lisa-Ann upper tract urothelial cell carcinoma integrated screening existing colorectal malignancy screening program Lynch syndrome Background: Lynch syndrome is a hereditary disorder, with a very high risk of the developing colorectal cancer (CRC) and a predilection to develop other cancers, including upper tract urothelial carcinoma (UTUC) that has an estimated lifetime risk of 0.2-25%, above that of the general population. Our aim was to assess the prevalence of UTUC in a Lynch syndrome cohort undergoing screening for CRC, to determine the need for a UTUC screening program. Methodology: Lynch syndrome patients were screened with urine dipstix for microscopic haematuria. Patients with confirmed microhaematuria were offered urine cytology, microscopy and culture, ultrasound (US) of their upper tracts and flexible cystoscopy. Results: Of the 89 patients screened, 86 had an MLH1 mutation and 2 had an MSH2 mutation. Eleven of the 12 patients who had microscopic haematuria were female. 10 patients had urinary tract infections. One patient had follicular cystitis and another had a simple renal cyst. No patients had hydronephrosis on ultrasound. All urine cytology specimens were negative for malignancy. Conclusion: No cases of UTUC were detected in our cohort during this study. A more rational screening protocol in this group may be to screen patients for UTUC with known MSH2 mutations at an earlier age (over 35). 2022-01-18T08:38:03Z 2022-01-18T08:38:03Z 2021 2022-01-18T08:37:33Z Master Thesis Masters MMed http://hdl.handle.net/11427/35501 eng application/pdf Division of General Surgery Faculty of Health Sciences |
| spellingShingle | upper tract urothelial cell carcinoma integrated screening existing colorectal malignancy screening program Lynch syndrome Pluke, Kent David Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome |
| thesis_degree_str | Master's |
| title | Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome |
| title_full | Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome |
| title_fullStr | Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome |
| title_full_unstemmed | Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome |
| title_short | Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome |
| title_sort | lessons from a pilot study of screening for upper tract urothelial cell carcinoma in lynch syndrome |
| topic | upper tract urothelial cell carcinoma integrated screening existing colorectal malignancy screening program Lynch syndrome |
| url | http://hdl.handle.net/11427/35501 |
| work_keys_str_mv | AT plukekentdavid lessonsfromapilotstudyofscreeningforuppertracturothelialcellcarcinomainlynchsyndrome |