NOTCH2 regulatory mutations influence the response of desmoid tumors to imatinib = NOTCH2 조절인자 돌연변이와 데스모이드 종양 환자들의 imatinib 반응성

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dc.contributor.advisorChoi, Jung Kyoon-
dc.contributor.authorLee, Jun Hyeong-
dc.description학위논문(석사) - 한국과학기술원 : 바이오및뇌공학과, 2019.2,[iv, 44 p. :]-
dc.description.abstractDesmoid tumor is a rare type of tumor of mesenchymal origin, constituting about 0.03% of all cancers. Desmoid tumor can be categorized into either sporadic desmoid tumor or familiar adenomatosis polyposis (FAP), depending on the mutation status of CTNNB1 and APC respectively. It is characterized by well differentiation and overgrowth of connective tissues. Of note, one of the most interesting feature is that desmoid tumor exhibits no metastasis, but instead, is featured by high local invasiveness and recurrence. Many researchers attempted to predict imatinib response using Whole-Exome Sequencing but no significant association was found. In this research, we performed Whole Genome Sequencing on desmoid tumor patients to profile mutations and discover genes or mutations that are associated with sensitivity to imatinib by investigating non-coding regions. We identified NOTCH2 regulatory mutations as predictor of response of desmoid tumor to imatinib. Deleteriousness of those NOTCH2 mutations was correlated with NOTCH2 expression in an independent cohort. Previous researches suggest that NOTCH signaling pathway is associated with maintenance of mesenchymal stem cell, which has been suggested as the source of desmoid tumor and target of imatinib. Our result indicates that NOTCH2 regulatory mutations and change in NOTCH2 expression can serve as a predictor of response to imatinib in desmoid tumor.-
dc.subjectNOTCH2▼aimatinib▼awhole-genome sequencing▼aregulatory mutations▼adesmoid tumor-
dc.subject노치 신호▼a이마티닙▼a시퀀싱▼a조절인자 돌연변이▼a데스모이드 종양-
dc.titleNOTCH2 regulatory mutations influence the response of desmoid tumors to imatinib = NOTCH2 조절인자 돌연변이와 데스모이드 종양 환자들의 imatinib 반응성-
dc.description.department한국과학기술원 :바이오및뇌공학과,-
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