Abstract
A 12-year-old girl presented with a large abdominal tumor. At surgery, a huge pedunculated extraluminal tumor was found arising from the greater curvature of the stomach and invading the surrounding structures, and there were also a submucosal tumor measuring 5 × 4 × 4 cm and multiple intramural nodules beside the main tumor. These lesions, which were removed with 1.0-cm surgical margins, were immunohistochemically positive for c-kit (CD117) and CD34. A diagnosis of gastrointestinal stromal tumor (GIST) was made. The huge size of the tumor (3.6 kg in weight and 36 × 25 × 25 cm in diameter), the invasion of the surrounding structures, and the increased mitotic figures indicated the GIST had malignant potential. Sequence analysis of the polymerase chain reaction product of RNAs from the tumor cells revealed a novel platelet-derived growth factor receptor α (PDGFRA) mutation, which would exhibit biologic consequences similar to those of the c-kit mutation. The patient underwent a 3-month course of imatinib mesylate as adjuvant chemotherapy because of the possible risk for tumor recurrence. She is now doing well without any evidence of recurrence or metastasis 25 months after the surgery. Only 9 cases of GIST have been reported in children, and a review of those cases revealed GISTs in children would be associated with a better prognosis than in adults and that one third of pediatric GISTs presented with intestinal obstruction in the newborn period.
| Original language | English |
|---|---|
| Pages (from-to) | 1798-1801 |
| Number of pages | 4 |
| Journal | Journal of Pediatric Surgery |
| Volume | 40 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 2005 |
| Externally published | Yes |
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Keywords
- c-kit
- Gastrointestinal stromal tumor
- Gleevec
- Imatinib
- PDGFRA
- STI571
ASJC Scopus subject areas
- Surgery
Cite this
Advanced-stage gastrointestinal stromal tumor treated with imatinib in a 12-year-old girl with a unique mutation of PDGFRA. / Kuroiwa, Minoru; Hiwatari, Mitsuteru; Hirato, Junko; Suzuki, Norio; Tsuchida, Yoshiaki; Shimada, Akira; Shitara, Toshiji; Taki, Tomohiko; Hayashi, Yasuhide.
In: Journal of Pediatric Surgery, Vol. 40, No. 11, 11.2005, p. 1798-1801.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Advanced-stage gastrointestinal stromal tumor treated with imatinib in a 12-year-old girl with a unique mutation of PDGFRA
AU - Kuroiwa, Minoru
AU - Hiwatari, Mitsuteru
AU - Hirato, Junko
AU - Suzuki, Norio
AU - Tsuchida, Yoshiaki
AU - Shimada, Akira
AU - Shitara, Toshiji
AU - Taki, Tomohiko
AU - Hayashi, Yasuhide
PY - 2005/11
Y1 - 2005/11
N2 - A 12-year-old girl presented with a large abdominal tumor. At surgery, a huge pedunculated extraluminal tumor was found arising from the greater curvature of the stomach and invading the surrounding structures, and there were also a submucosal tumor measuring 5 × 4 × 4 cm and multiple intramural nodules beside the main tumor. These lesions, which were removed with 1.0-cm surgical margins, were immunohistochemically positive for c-kit (CD117) and CD34. A diagnosis of gastrointestinal stromal tumor (GIST) was made. The huge size of the tumor (3.6 kg in weight and 36 × 25 × 25 cm in diameter), the invasion of the surrounding structures, and the increased mitotic figures indicated the GIST had malignant potential. Sequence analysis of the polymerase chain reaction product of RNAs from the tumor cells revealed a novel platelet-derived growth factor receptor α (PDGFRA) mutation, which would exhibit biologic consequences similar to those of the c-kit mutation. The patient underwent a 3-month course of imatinib mesylate as adjuvant chemotherapy because of the possible risk for tumor recurrence. She is now doing well without any evidence of recurrence or metastasis 25 months after the surgery. Only 9 cases of GIST have been reported in children, and a review of those cases revealed GISTs in children would be associated with a better prognosis than in adults and that one third of pediatric GISTs presented with intestinal obstruction in the newborn period.
AB - A 12-year-old girl presented with a large abdominal tumor. At surgery, a huge pedunculated extraluminal tumor was found arising from the greater curvature of the stomach and invading the surrounding structures, and there were also a submucosal tumor measuring 5 × 4 × 4 cm and multiple intramural nodules beside the main tumor. These lesions, which were removed with 1.0-cm surgical margins, were immunohistochemically positive for c-kit (CD117) and CD34. A diagnosis of gastrointestinal stromal tumor (GIST) was made. The huge size of the tumor (3.6 kg in weight and 36 × 25 × 25 cm in diameter), the invasion of the surrounding structures, and the increased mitotic figures indicated the GIST had malignant potential. Sequence analysis of the polymerase chain reaction product of RNAs from the tumor cells revealed a novel platelet-derived growth factor receptor α (PDGFRA) mutation, which would exhibit biologic consequences similar to those of the c-kit mutation. The patient underwent a 3-month course of imatinib mesylate as adjuvant chemotherapy because of the possible risk for tumor recurrence. She is now doing well without any evidence of recurrence or metastasis 25 months after the surgery. Only 9 cases of GIST have been reported in children, and a review of those cases revealed GISTs in children would be associated with a better prognosis than in adults and that one third of pediatric GISTs presented with intestinal obstruction in the newborn period.
KW - c-kit
KW - Gastrointestinal stromal tumor
KW - Gleevec
KW - Imatinib
KW - PDGFRA
KW - STI571
UR - http://www.scopus.com/inward/record.url?scp=27744565616&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=27744565616&partnerID=8YFLogxK
U2 - 10.1016/j.jpedsurg.2005.07.066
DO - 10.1016/j.jpedsurg.2005.07.066
M3 - Article
VL - 40
SP - 1798
EP - 1801
JO - Journal of Pediatric Surgery
JF - Journal of Pediatric Surgery
SN - 0022-3468
IS - 11
ER -