Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum.

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Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify HNPCC families in which sarcomas had been diagnosed. Fourtieen sarcomas were identified in families with mutations in MSH2, MSH6, and MLH1. The median age at sarcoma diagnosis was 43 (15-74) years. Soft tissue sarcomas predominated followed by uterine sarcomas and eight histopathological subtypes were represented with recurrent diagnoses of liposarcoma, leiomyosarcoma, and carcinosarcoma. Tumor tissue from eight cases was available for analysis of mismatch-repair (MMR) status using immunohistochemical staining and analysis of microsatellite instability, which revealed MMR defects in six of the eight tumors investigated. This suggests that sarcomas may be part of the HNPCC tumor spectrum and that colorectal cancer should be considered in the family history of sarcoma patients.



https://www.ncbi.nlm.nih.gov/m/pubmed/19130300/

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Abstract

Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolonic malignancies and alternative genetic pathways gives new insight into the true prevalence and penetrance of Lynch syndrome.

Keywords: Lynch syndrome, extracolonic malignancies, mismatch repair genes, atypical phenotype
Objectives: Upon completion of this article, the reader should be able to summarize well-documented characteristics of Lynch syndrome, as well as recent data serving to redefine the role of extracolonic malignancies.


https://www.ncbi.nlm.nih.gov/pmc/articl ... n_sectitle

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This article leads us from beginning to current understanding of the Lynch syndrome

HISTORY OF HEREDITARY NONPOLYPOSIS COLORECTAL CANCER OR “LYNCH SYNDROME”☆

https://www.sciencedirect.com/science/a ... 4017301001