DOI: 10.1097/mpa.0000000000002313 ISSN: 1536-4828

Familial Intraductal Papillary Mucinous Neoplasm Associated With the Germline MSH6 Missense Variant and Progression of Pancreatic cancer

Koji Tezuka, Mitsunori Yamakawa, Ryoko Murakami, Ichiro Hirai, Ryo Toya, Akihiko Suzuki, Hiroshi Kawamura, Yuki Miyano, Hidenori Sato, Fuyuhiko Motoi
  • Endocrinology
  • Hepatology
  • Endocrinology, Diabetes and Metabolism
  • Internal Medicine
Show PDF Cite

Objectives

Intraductal papillary mucinous neoplasm (IPMN) in individuals with at least one first-degree relative with IPMN is defined as familial IPMN. However, few studies have reported on familial IPMN, its clinical characteristics, or the associated genetic factors.

Materials and Methods

We report the case of a 58-year-old woman with multifocal IPMN and a mural nodule in the pancreatic body. The patient underwent a distal pancreatectomy and developed pancreatic head cancer 1 year and 6 months postoperatively. The patient had a family history of multifocal IPMN in her father. Therefore, a genetic predisposition to IPMN and pancreatic cancer was suspected. The patient was analyzed for germline variants, and the resected IPMN was subjected to immunohistochemical and somatic variant analyses.

Results

Next-generation sequencing revealed a heterozygous germline missense variant in exon 5 of MSH6 (c.3197A>G; Tyr1066Cys). The pathogenicity of this variant of uncertain significance was suspected based on multiple in silico analyses, and the same MSH6 variant was identified in the patient's father's colonic adenoma. The mural nodule in the pancreatic body was pathologically diagnosed as a high-grade IPMN with ossification and somatic KRAS and PIK3CA variants.

Conclusions

This case revealed a possible genetic factor for familial IPMN development and presented interesting clinicopathological findings.

More from our Archive