Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma

International guidelines for the diagnosis of Lynch syndrome (LS) recommend molecular screening of colorectal cancers (CRCs) to identify patients for germline mismatch repair (MMR) gene testing. As our understanding of the LS phenotype and diagnostic technologies have advanced, there is a need to review these guidelines and new screening opportunities. We discuss the barriers to implementation of current guidelines, as well as guideline limitations, and highlight new technologies and knowledge that may address these. We also discuss alternative screening strategies to increase the rate of LS diagnoses. In particular, the focus of current guidance on CRCs means that approximately half of Lynch-spectrum tumours occurring in unknown male LS carriers, and only one-third in female LS carriers, will trigger testing for LS. There is increasing pressure to expand guidelines to include molecular screening of endometrial cancers, the most frequent cancer in female LS carriers. Furthermore, we collate the evidence to support MMR deficiency testing of other Lynch-spectrum tumours to screen for LS. However, a reliance on tumour tissue limits preoperative testing and, therefore, diagnosis prior to malignancy. The recent successes of functional assays to detect microsatellite instability or MMR deficiency in non-neoplastic tissues suggest that future diagnostic pipelines could become independent of tumour tissue.

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How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies

Gallon

Gawthorpe

Phelps

et al. 2021

Cancers

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Jejunal Adenocarcinoma as Part of Metachronous Triple Primary Cancers of the Digestive Tract in Patient with Hereditary Nonpolyposis Colorectal Cancer

Choi¹,

Jung²

2011

Intest Res

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Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterized by onset at a relatively early age, an excess of synchronous and metachronous tumors, and a variety of extracolorectal malignancies. Small bowel carcinoma reported, is included in the tumor spectrum of HNPCC, but the frequency of occurrence of this tumor in HNPCC patients is comparatively rare. In Korea, several cases of multiple primary cancers in patients with HNPCC have been reported, however, primary jejunal adenocarcinoma in conjunction with multiple primary cancers in the digestive tract has rarely been reported. Recently, we evaluated a 61-year-old male diagnosed with metachronous triple primary cancers of the jejunum, stomach, and colon. We report this rare case of primary jejunal adenocarcinoma as a part of metachronous triple cancers along with a review of the relevant literature.

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Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma

Cited by 2 publications

References 24 publications

How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies

How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies

Jejunal Adenocarcinoma as Part of Metachronous Triple Primary Cancers of the Digestive Tract in Patient with Hereditary Nonpolyposis Colorectal Cancer

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