Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome
Immunohistochemistry for mismatch repair proteins and microsatellite instability testing are recommended screening methods for Lynch syndrome. They have a good sensitivity and specificity, allowing for directed genetic testing and diagnosis. We report a case of Lynch syndrome with retained MMR prote...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-08-01
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| Series: | Gynecologic Oncology Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352578921001582 |
| _version_ | 1818348174891286528 |
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| author | Prerana Nagabhushana Snigdha Kumari Minakshi Rohilla Radhika Srinivasan Aashima Arora Pulkit Rastogi |
| author_facet | Prerana Nagabhushana Snigdha Kumari Minakshi Rohilla Radhika Srinivasan Aashima Arora Pulkit Rastogi |
| author_sort | Prerana Nagabhushana |
| collection | DOAJ |
| description | Immunohistochemistry for mismatch repair proteins and microsatellite instability testing are recommended screening methods for Lynch syndrome. They have a good sensitivity and specificity, allowing for directed genetic testing and diagnosis. We report a case of Lynch syndrome with retained MMR protein expression who later showed an MLH1 gene variant on genetic testing (Next Generation Sequencing) requested because of the clinical presentation of metachronous colonic and endometrial carcinoma. This report makes the case for strong clinical suspicion and directed genetic testing despite initial screen negative results. |
| first_indexed | 2024-12-13T17:45:52Z |
| format | Article |
| id | doaj.art-03fec3e8e2b544778465f0d12220b93e |
| institution | Directory Open Access Journal |
| issn | 2352-5789 |
| language | English |
| last_indexed | 2024-12-13T17:45:52Z |
| publishDate | 2021-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Gynecologic Oncology Reports |
| spelling | doaj.art-03fec3e8e2b544778465f0d12220b93e2022-12-21T23:36:36ZengElsevierGynecologic Oncology Reports2352-57892021-08-0137100854Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndromePrerana Nagabhushana0Snigdha Kumari1Minakshi Rohilla2Radhika Srinivasan3Aashima Arora4Pulkit Rastogi5Department of Obstetrics and Gynecology, PGIMER, Chandigarh, IndiaDepartment of Obstetrics and Gynecology, PGIMER, Chandigarh, India; Corresponding author at: Flat No. 2, Ground Floor, Teachers Flat, PGIMER, Chandigarh, India.Department of Obstetrics and Gynecology, PGIMER, Chandigarh, IndiaDepartment of Cytology and Gynecologic Pathology, PGIMER, Chandigarh, IndiaDepartment of Obstetrics and Gynecology, PGIMER, Chandigarh, IndiaDepartment of Histopathology, PGIMER, Chandigarh, IndiaImmunohistochemistry for mismatch repair proteins and microsatellite instability testing are recommended screening methods for Lynch syndrome. They have a good sensitivity and specificity, allowing for directed genetic testing and diagnosis. We report a case of Lynch syndrome with retained MMR protein expression who later showed an MLH1 gene variant on genetic testing (Next Generation Sequencing) requested because of the clinical presentation of metachronous colonic and endometrial carcinoma. This report makes the case for strong clinical suspicion and directed genetic testing despite initial screen negative results.http://www.sciencedirect.com/science/article/pii/S2352578921001582Endometrial cancerLynch syndromeMismatch repair proteinImmunohistochemistryMLH1 |
| spellingShingle | Prerana Nagabhushana Snigdha Kumari Minakshi Rohilla Radhika Srinivasan Aashima Arora Pulkit Rastogi Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome Gynecologic Oncology Reports Endometrial cancer Lynch syndrome Mismatch repair protein Immunohistochemistry MLH1 |
| title | Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome |
| title_full | Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome |
| title_fullStr | Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome |
| title_full_unstemmed | Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome |
| title_short | Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome |
| title_sort | discordant immunohistochemistry in an unusual mlh1 gene variant in a case of lynch syndrome |
| topic | Endometrial cancer Lynch syndrome Mismatch repair protein Immunohistochemistry MLH1 |
| url | http://www.sciencedirect.com/science/article/pii/S2352578921001582 |
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