2019
DOI: 10.1089/lrb.2018.0049
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Cancer Risk in Klippel–Trenaunay Syndrome

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Cited by 22 publications
(23 citation statements)
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“…This underscores the likely presence of CLOVES-associated mutations in cell types other than EC. Interestingly, two studies on patients with KTS reported that the risk of cancers in children and adults was not higher than in the general population [ 17 , 18 ]. These reports fit with our notion that especially CLOVES patients tend to have non-hotspot mutations with higher allelic frequencies.…”
Section: Discussionmentioning
confidence: 99%
“…This underscores the likely presence of CLOVES-associated mutations in cell types other than EC. Interestingly, two studies on patients with KTS reported that the risk of cancers in children and adults was not higher than in the general population [ 17 , 18 ]. These reports fit with our notion that especially CLOVES patients tend to have non-hotspot mutations with higher allelic frequencies.…”
Section: Discussionmentioning
confidence: 99%
“…Outside of CLOVES syndrome, Wilms tumor has only been reported in 4 other patients with PIK3CA-related overgrowth spectrum (PROS) disorders including two cases seen in macrocephaly-capillary malformation (M-CM) (57,(62)(63)(64). Other PROS disorders, including Klippel-Trenaunay syndrome (KTS), have not been shown to be associated with an increased risk of Wilms tumor or other malignancy compared to the general population (57,65,66). Given the increased risk in patients with CLOVES syndrome and the benefit of early detection of Wilms tumor, these patients may benefit from screening ultrasounds.…”
Section: Vascular Syndromes With Malignancy Riskmentioning
confidence: 99%
“…Although KTS share the same PIK3CA hot-spot mutations with various cancers, the risk of cancers in patient with KTS does not appear to be higher than in the general population (Blatt et al, 2019). Actually, previous studies have demonstrated that PIK3CA is a poor oncogene on its own and usually require cooperating genetic lesions to induce cancer (Arafeh and Samuels, 2019).…”
Section: Discussionmentioning
confidence: 97%