期刊
CELLULAR AND MOLECULAR LIFE SCIENCES
卷 78, 期 8, 页码 3867-3881出版社
SPRINGER BASEL AG
DOI: 10.1007/s00018-020-03753-y
关键词
Infantile myofibromatosis; Fahr disease; Unicentric Castleman disease; Hereditary progressive mucinous histiocytosis
资金
- Foundation against Cancer (Belgium)
- King-Baudouin Foundation (Belgium)
- National Fund for Scientific Research (FNRS) (Belgium)
PDGFRA and PDGFRB are classical proto-oncogenes encoding receptor tyrosine kinases, with mutations linked to various tumors and diseases. Research has validated the effectiveness of tyrosine kinase inhibitors targeting PDGF receptors, such as imatinib, as a treatment for certain conditions.
PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in gastrointestinal stromal tumors (GISTs), inflammatory fibroid polyps and gliomas, and PDGFRB mutations drive myofibroma development. In addition, chromosomal rearrangement of either gene causes myeloid neoplasms associated with hypereosinophilia. Recently, mutations in PDGFRB were linked to several noncancerous diseases. Germline heterozygous variants that reduce receptor activity have been identified in primary familial brain calcification, whereas gain-of-function mutants are present in patients with fusiform aneurysms, Kosaki overgrowth syndrome or Penttinen premature aging syndrome. Functional analysis of these variants has led to the preclinical validation of tyrosine kinase inhibitors targeting PDGF receptors, such as imatinib, as a treatment for some of these conditions. This review summarizes the rapidly expanding knowledge in this field.
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