title: Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation.
abstract: Juvenile polyposis syndrome (JPS) is a dominantly inherited disorder characterized by the development of numerous juvenile polyps (JPs) of the gastrointestinal tract, and associated with a mutation of the SMAD4 or BMPR1A gene. Here, we report a mother-daughter case of familial JPS. A 29-year-old female patient with severe iron deficiency anemia and hypoproteinemia had numerous polyps in the stomach and a few polyps in the ileum and colon that were detected endoscopically. Biopsy specimens from the gastric polyps were diagnosed as JPs. The patient underwent a laparoscopy-assisted total gastrectomy, and her anemia and hypoproteinemia improved. Her mother also had multiple JPs in the stomach, duodenum, jejunum, and colon. We then diagnosed them as having familial JPS. Moreover, germline mutation analysis of the 2 patients presented a novel pathogenic SMAD4 variant.
authors.affiliation: Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan. yutakatheskywalker@gmail.com.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Honda
authors.affiliation: Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Gastroenterology, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Junji
authors.initials: J
authors.lastname: Yokoyama
authors.affiliation: Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Kobayashi
authors.affiliation: Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Rintaro
authors.initials: R
authors.lastname: Narisawa
authors.affiliation: Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Kawauchi
authors.affiliation: Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hoshi
authors.affiliation: Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata City, 951-8510, Japan.
authors.forename: Kazuhito
authors.initials: K
authors.lastname: Yajima
authors.affiliation: Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata City, 951-8510, Japan.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Kanda
authors.affiliation: Division of Molecular and Diagnostic Pathology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Ajioka
authors.affiliation: Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata City, 951-8510, Japan.
authors.forename: Katsuyoshi
authors.initials: K
authors.lastname: Hatakeyama
authors.affiliation: Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Aoyagi
keywords: Familial juvenile polyposis syndrome; Gastric polyp; Laparoscopy-assisted total gastrectomy; Protein losing gastropathy; SMAD4 germline mutation