Gastrointestinal stromal tumor with two genetic abnormalities on different alleles: report of a case.
We report a case of a gastrointestinal stromal tumor (GIST) with strong and faint KIT protein staining, respectively, at two different sites. A single point mutation (c1727 T>C) was detected in DNA extracted from both sites, and a further deletion mutation (c1678_1680 del GTT) was detected in DNA from the site with strong KIT protein staining. Cloning analysis indicated that the point mutation and the deletion were present on different alleles.
Ichikawa
Yasushi
Y
Department of Gastroenterological Surgery, Yokohama City University Postgraduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Miyagi
Yohei
Y
Fujii
Shoichi
S
Ota
Mitsuyoshi
M
Yamagishi
Shigeru
S
Hasegawa
Shingo
S
Saito
Shuuji
S
Ike
Hideyuki
H
Ohki
Shigeo
S
Nakano
Akira
A
Matsumura
Naomi
N
Ishikawa
Takashi
T
Kunizaki
Chikara
C
Shimada
Hiroshi
H
D000368:Aged; D000483:Alleles; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007414:Intestinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D007421:Intestine, Small; D009364:Neoplasm Recurrence, Local; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017384:Sequence Deletion
D019009:Proto-Oncogene Proteins c-kit