2022
DOI: 10.1002/ajmg.c.32021
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Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway

Abstract: Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular anomalies, segmental overgrowth, and increased cancer risk. They are caused by somatic pathogenic variants of the genes belonging the RAt Sarcoma Mitogenactivated protein kinase (RAS/MAPK) pathway causing its hyperactivation. Here, we review the clinical and molecular characteristics of this heterogeneous group of diseases, including the possibilities of… Show more

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Cited by 9 publications
(2 citation statements)
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“…For example, TGF-β signaling, a driver of EndMT, is up-regulated in both HHT [ 49 , 50 ] and CCM [ 28 , 51 ]. MAP kinase signaling (ERK, p38, JNK) is up-regulated in vascular RASopathies [ 52 ], infantile hemangioma [ 53 ], capillary malformation-arteriovenous malformation syndrome (CM-AVM) [ 54 ], Parkes-Weber syndrome (PWS) [ 55–57 ], Sturge-Weber syndrome (SWS) [ 58 ], HHT [ 59 ], and CCM [ 33 ]. Finally, PI3K signaling has recently been identified as an important player in CCM [ 34 ] but also contributes to PWS [ 57 ], SWS [ 58 ], venous malformation (VM and VMCM) [ 60 , 61 ], Klippel-Trénaunay syndrome (KTS) [ 62–64 ], HHT [ 65 ], and multiple PIK3CA syndromes which have associated vascular anomalies [ 66 , 67 ].…”
Section: Krit1 In Vascular Biologymentioning
confidence: 99%
“…For example, TGF-β signaling, a driver of EndMT, is up-regulated in both HHT [ 49 , 50 ] and CCM [ 28 , 51 ]. MAP kinase signaling (ERK, p38, JNK) is up-regulated in vascular RASopathies [ 52 ], infantile hemangioma [ 53 ], capillary malformation-arteriovenous malformation syndrome (CM-AVM) [ 54 ], Parkes-Weber syndrome (PWS) [ 55–57 ], Sturge-Weber syndrome (SWS) [ 58 ], HHT [ 59 ], and CCM [ 33 ]. Finally, PI3K signaling has recently been identified as an important player in CCM [ 34 ] but also contributes to PWS [ 57 ], SWS [ 58 ], venous malformation (VM and VMCM) [ 60 , 61 ], Klippel-Trénaunay syndrome (KTS) [ 62–64 ], HHT [ 65 ], and multiple PIK3CA syndromes which have associated vascular anomalies [ 66 , 67 ].…”
Section: Krit1 In Vascular Biologymentioning
confidence: 99%
“…These include various developmental tissue anomalies, such as epidermal nevi or vascular malformations. They are caused by distinctive somatic mosaic variants in RAS-MAPK pathway genes, which are typically observed in cancer ( 8 ). Here, we aimed at further testing the hypothesis that CPAMs represent mosaic RASopathies and at investigating clinical characteristics and genotype-phenotype correlations.…”
mentioning
confidence: 99%