Long-Term Survival of a Lynch Syndrome Patient With Eight Primary Tumors: A Case Report

Abstract

With the modern technological developments in the diagnosis and treatment of cancer, the survival rate of cancer patients has increased. On the other hand, the incidence of multiple primary tumors is increasing annually. Lynch syndrome (LS), an autosomal dominant disorder with germline mutations in DNA mismatch repair genes, increases the risk of cancer in patients carrying those mutations. In this report, we present an extremely rare case of an 81-year-old male patient with eight primary malignancies and LS. The patient is still alive having survived for more than 41 years since the initial discovery of the first tumor. The eighth and most recently diagnosed primary cancer was a malignant peripheral nerve sheath tumor. Although there have been numerous reports of malignancies in LS, malignant peripheral nerve sheath tumors have not been reported previously with LS. Here, we report, to the best of our knowledge, the first case of a malignant peripheral nerve sheath tumor with LS.

Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review

“…Many multiple primary tumors have distinct genetic factors, with different gene mutations and varying cancer sites (13)(14)(15)(16)(17)(18)(19). Due to mutations in the MMR genes, patients with LS have a higher likelihood of developing various types of cancers compared to the general population (20). In addition to the classic association with CRC, LS is also associated with a variety of extraintestinal tumors.…”

Multiple primary lung cancer: Updates and perspectives

“…However, the landscape of germline mutations, including the rates of various mutated genes and identification of pathological mutations, should be addressed first to pave the way. Furthermore, familial hereditary syndromes, such as Li‐Fraumeni syndrome, 125 and Lynch syndrome, 126 are also relatively rare etiologies of MPLC, resulting from germline inherited mutations.…”

A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas

“…All of these factors increase the probability of developing cancer driver mutations, and, therefore, increase the chance of the development of cancer. For this reason, carriers of one of the pathogenic mutations of MMR genes are considered to have an increased risk of colorectal and certain other cancers, such as cancer of the endometrium, ovaries, prostate, stomach, pancreas, etc., over their lifetimes [ 2 , 3 , 4 ].…”