Abstract
We treated a 39-year-old woman with hypoproteinemia and anemia who had profuse gastric polyposis. Radiographic and endoscopic examination showed numerous polyps restricted to the stomach. The patient had pulmonary arteriovenous malformations in the left lung. Histological examination of the resected stomach revealed the gastric polyposis to be composed of cystic dilatation of the glands with small areas of adenocarcinoma. These findings were compatible with gastric juvenile polyposis (GJP) accompanied by gastric cancer. Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). Our case suggests that SMAD4 is possibly a responsible gene for GJP.
| Original language | English |
|---|---|
| Pages (from-to) | 326-329 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 134 A |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Apr 30 2005 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
Cite this
Gastric juvenile polyposis associated with germline SMAD4 mutation. / Shikata, Kentaro; Kukita, Yoji; Matsumoto, Takayuki; Esaki, Motohiro; Yao, Takashi; Mochizuki, Yuichi; Hayashi, Kenshi; Iida, Mitsuo.
In: American Journal of Medical Genetics, Vol. 134 A, No. 3, 30.04.2005, p. 326-329.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Gastric juvenile polyposis associated with germline SMAD4 mutation
AU - Shikata, Kentaro
AU - Kukita, Yoji
AU - Matsumoto, Takayuki
AU - Esaki, Motohiro
AU - Yao, Takashi
AU - Mochizuki, Yuichi
AU - Hayashi, Kenshi
AU - Iida, Mitsuo
PY - 2005/4/30
Y1 - 2005/4/30
N2 - We treated a 39-year-old woman with hypoproteinemia and anemia who had profuse gastric polyposis. Radiographic and endoscopic examination showed numerous polyps restricted to the stomach. The patient had pulmonary arteriovenous malformations in the left lung. Histological examination of the resected stomach revealed the gastric polyposis to be composed of cystic dilatation of the glands with small areas of adenocarcinoma. These findings were compatible with gastric juvenile polyposis (GJP) accompanied by gastric cancer. Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). Our case suggests that SMAD4 is possibly a responsible gene for GJP.
AB - We treated a 39-year-old woman with hypoproteinemia and anemia who had profuse gastric polyposis. Radiographic and endoscopic examination showed numerous polyps restricted to the stomach. The patient had pulmonary arteriovenous malformations in the left lung. Histological examination of the resected stomach revealed the gastric polyposis to be composed of cystic dilatation of the glands with small areas of adenocarcinoma. These findings were compatible with gastric juvenile polyposis (GJP) accompanied by gastric cancer. Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). Our case suggests that SMAD4 is possibly a responsible gene for GJP.
UR - http://www.scopus.com/inward/record.url?scp=16344369067&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=16344369067&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30482
DO - 10.1002/ajmg.a.30482
M3 - Article
C2 - 15754356
AN - SCOPUS:16344369067
VL - 134 A
SP - 326
EP - 329
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -