Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.
Abstract | OBJECTIVES: The term ´Rasopathies´ represents a group of five neurodevelopmental syndromes (Noonan, LEOPARD, Costello, Cardio-facio-cutaneous, and Neurofibromatose- Noonan syndrome) caused by germline mutation in genes encoding proteins involved in RAS/MAPK (rat sarcoma/ mitogen-activated protein kinase) signaling pathway. The RAS/MAPK signaling pathway participates in regulation of cell determination, proliferation, differentiation, migration, and senescence and dysregulation of this pathway can lead to the risk of tumorigenesis. In this review, we aim to summarize the current clinical and molecular genetic knowledge on Rasopathies with special attention for the risk of cancer. We propose also clinical and therapeutic approach for patients with malignancy. METHODS: We are reviewing the clinical and molecular basis of Rasopathies based on recent studies, clinical examination, and molecular diagnostics (mutation analysis of causal genes for Rasopathies) in Slovak pediatric patients. RESULTS: CONCLUSION: Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome. The molecular diagnostics may allow the detection of pathogenic mutation associated with tumorigenesis.
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Authors | M Cizmarova, L Kostalova, Z Pribilincova, Z Lasabova, A Hlavata, L Kovacs, D Ilencikova |
Journal | Endocrine regulations
(Endocr Regul)
Vol. 47
Issue 4
Pg. 217-22
(Oct 2013)
ISSN: 1210-0668 [Print] Germany |
PMID | 24156711
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
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Topics |
- Body Height
(genetics)
- Costello Syndrome
(epidemiology, genetics, metabolism)
- Ectodermal Dysplasia
(epidemiology, genetics, metabolism)
- Facies
- Failure to Thrive
(epidemiology, genetics, metabolism)
- Heart Defects, Congenital
(epidemiology, genetics, metabolism)
- Humans
- MAP Kinase Signaling System
(genetics)
- Neoplasms
(epidemiology, genetics, metabolism)
- Neurofibromatoses
(epidemiology, genetics, metabolism)
- Noonan Syndrome
(epidemiology, genetics, metabolism)
- Risk Factors
- ras Proteins
(genetics, metabolism)
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