Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib

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• 作者：Divya Gupta ; Laxmisha Chandrashekar ; Lidia Larizza ; Elisa A. Colombo ; Laura Fontana ; Cristina Gervasini ; Devinder M. Thappa ; Medha Rajappa ; Kalai Selvi Rajendiran ; Gubbi Shamanna Sreenath and Vikram Kate
• 刊名：International Journal of Dermatology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：56
• 期：2
• 页码：195-201
• 全文大小：523K
• ISSN：1365-4632

文摘

Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis, and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes.