메뉴 건너뛰기
.. 내서재 .. 알림
소속 기관/학교 인증
인증하면 논문, 학술자료 등을  무료로 열람할 수 있어요.
한국대학교, 누리자동차, 시립도서관 등 나의 기관을 확인해보세요
(국내 대학 90% 이상 구독 중)
로그인 회원가입 고객센터 ENG
주제분류

추천
검색

이용수

표지
📌
연구주제
📖
연구배경
🔬
연구방법
🏆
연구결과
AI에게 요청하기
추천
검색

초록· 키워드

오류제보하기
Background/Aims: Gastrointestinal stromal tumors (GISTs) strongly express a receptor tyrosine kinase (RTK, c-KIT-CD117) harboring a KIT mutation that causes constitutive receptor activation leading to the development and growth of tumors; 35% of GISTs without KIT mutations have platelet-derived growth factor receptor alpha (PDGFRA) mutations, and the type of mutation plays an important role in the response to treatment. This study aimed to establish the frequency of stop codon mutations in the RTKs, KIT, and PDGFRA, in GISTs and correlate this molecular alteration with protein expression and treatment responsiveness. Methods: Seventy-nine GISTs were analyzed for both KIT and PDGFRA mutations. Immunohistochemical expression was studied in tissue microarray blocks. Results: We found three rare KIT mutations in exon 11 that induced a stop codon, two at position 563 and one at position 589, which have never been described before. All three tumors were CD117-, DOG1-, and CD34-positive. Two patients with a KIT stop codon mutation did not respond to imatinib therapy and died shortly after treatment. Conclusions: The association between stop codon mutations in KIT and patient survival, if confirmed in a larger population, may be useful in choosing effective therapies.

목차

등록된 정보가 없습니다.

참고문헌 (1)

참고문헌 신청
Agaimy A / 2010 / Gastrointestinal stromal tumors (GIST) from risk stratification systems to the new TNM proposal: more questions than answers? A review emphasizing the need for a standardized GIST reporting / Int J Clin Exp Pathol 3 : 461 ~ 471 | 2. [학술지(정기간행물)] - Hirota S / 1998 / Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors / Science 279 : 577 ~ 580 | 3. [학술지(정기간행물)] - Miettinen M / 2001 / Gastrointestinal stromal tumors: definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis / Virchows Arch 438 : 1 ~ 12 | 4. [학술지(정기간행물)] - Liegl B / 2009 / Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes / Am J Surg Pat 33 : 437 ~ 446 | 5. [학술지(정기간행물)] - Longley BJ / 2001 / Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy / Leuk Res 25 : 571 ~ 576 | 6. [학술지(정기간행물)] - Rubin BP / 2001 / KIT activation is a ubiquitous feature of gastrointestinal stromal tumors / Cancer Res 61 : 8118 ~ 8121 | 7. [학술지(정기간행물)] - Kontogianni-Katsarou K / 2008 / KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential / World J Gastroenterol 14 : 1891 ~ 1897 | 8. [학술지(정기간행물)] - Heinrich MC / 2008 / Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncology Group / J Clin Oncol 26 : 5360 ~ 5367 | 9. [학술지(정기간행물)] - Heinrich MC / 2008 / Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor / J Clin Oncol 26 : 5352 ~ 5359 | 10. [학술지(정기간행물)] - Andersson J / 2006 / Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis / Gastroenterology 130 : 1573 ~ 1581 | 11. [학술지(정기간행물)] - Nishida T / 1998 / Familial gastrointestinal stromal tumours with germline mutation of the KIT gene / Nat Genet 19 : 323 ~ 324 | 12. [학술지(정기간행물)] - Allander SV / 2001 / Gastrointestinal stromal tumors with KIT mutations exhibit a remarkably homogeneous gene expression profile / Cancer Res 61 : 8624 ~ 8628 | 13. [학술지(정기간행물)] - Heinrich MC / 2003 / PDGFRA activating mutations in gastrointestinal stromal tumors / Science 299 : 708 ~ 710 | 14. [학술지(정기간행물)] - Jones AV / 2004 / Oncogenic derivatives of platelet-derived growth factor receptors / Cell Mol Life Sci 61 : 2912 ~ 2923 | 15. [학술지(정기간행물)] - Lasota J / 2006 / GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology / Lab Invest 86 : 94 ~ 100 | 16. [학술지(정기간행물)] - Heinrich MC / 2003 / Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor / J Clin Oncol 21 : 4342 ~ 4349 | 17. [학술지(정기간행물)] - Stroobants S / 2003 / 18FDG-Positron emission tomography for the early prediction of response in advanced soft tissue sarcoma treated with imatinib mesylate (Glivec) / Eur J Cancer 39 : 2012 ~ 2020 | 18. [학술지(정기간행물)] - Debiec-Rychter M / 2004 / Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity / J Pathol 202 : 430 ~ 438 | 19. [학술지(정기간행물)] - Vu HA / 2005 / A recurrent duodenal gastrointestinal stromal tumor with a frameshift mutation resulting in a stop codon in KIT exon 13 / Genes Chromosomes Cancer 42 : 179 ~ 183 | 20. [학술지(정기간행물)] - / 2006 / c-kit Expression and mutations in peripheral T cell lymphomas, except for extra-nodal NK/T cell lymphomas / LEUKEMIA & LYMPHOMA 47 : 267 ~ 270 | 21. [학술지(정기간행물)] - Fletcher CD / 2002 / Diagnosis of gastrointestinal stromal tumors: a consensus approach / Hum Pathol 33 : 459 ~ 465 | 22. [학술지(정기간행물)] - Kindblom LG / 1998 / Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal / Am J Pathol 152 : 1259 ~ 1269 | 23. [학술지(정기간행물)] - Judson IR / 2008 / Prognosis, imatinib dose, and benefit of sunitinib in GIST: knowing the genotype / J Clin Oncol 26 : 5322 ~ 5325 | 24. [학술지(정기간행물)] - Steigen SE / 2007 / Mutations in gastrointestinal stromal tumors: a population-based study from Northern Norway / APMIS 115 : 289 ~ 298 google schola

이 논문의 저자 정보

최근 본 자료

전체보기

댓글(0)

0