Case Report: Familial Gastric Cancer and Chordoma in the Same Family

Abstract

Gastric cancers are the second most common malignancy in the world and represent a major burden to all societies even though the incidence of disease is decreasing in the industrialized world. The aetiology of the disease is complex and is believed to be primarily due to environmental factors but a small proportion of cases are recognised as being associated with genetic factors. Two inherited forms of stomach cancer have been identified, one which is associated with familial clusterings of stomach cancer and the other being a subgroup of families that belong to hereditary non polyposis colorectal cancer (or Lynch syndrome). In this report we present a small nuclear family which is unusual in that there is a clustering of malignancy which includes stomach cancer, colorectal cancer and chordoma. Genetic analysis failed to reveal any causative mutation in genes associated with HNPCC or in E-cadherin. Together, the clinical picture in this family may indicate that other genetic factors are behind this family's clustering of malignancy.

Lynch syndrome-associated chordoma with high tumor mutational burden and significant response to immune checkpoint inhibitors

“…No studies have been published regarding chordoma complications in patients with genetically confirmed Lynch syndrome, although Weber W et al reported a possible chordoma complication of Lynch syndrome, where it had not been genetically determined to be Lynch syndrome [ 16 ]. Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by a germline mutation in one of the following four MMR genes: MLH1, MSH2, MSH6, or PMS2 [ 17 , 18 ].…”