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10.1016/j.jpeds.2014.12.069 http://scihub22266oqcxt.onion/10.1016/j.jpeds.2014.12.069 C4498659!4498659!25681199     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25681199&cmd=llinks): Failed to open stream: HTTP request failed! 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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA |pdf=|usr=}}{{25681199}} gab.com Text Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA JO: J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=25681199 #FOAvip Objectives: To test the hypothesis that somatic PIK3CA mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). Study design: We used next generation sequencing, droplet digital PCR (ddPCR), and single molecule molecular inversion probes (smMIPs) to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children?s Hospital who had an isolated LM (n=17), KTS (n=21), fibro-adipose vascular anomaly (FAVA; n=8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (CLOVES; n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n=31) from Seattle Children?s Hospital. Results: Most individuals from Boston Children?s Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), FAVA (4/8), and CLOVES (30/32) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ~ 80% of cases. Seventy-four percent of patients with LM from Seattle Children?s Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. Conclusions: Somatic PIK3CA mutations are the most common cause of isolated lymphatic malformations and disorders in which lymphatic malformation is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism, because the abundance of mutant cells in a malformed tissue can be low. Twit Text FOAVip Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA ????J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=25681199 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25681199 #FOAvip English Wikipedia <ref>{{Cite pmid|25681199}}</ref> Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA #MMPMID25681199 Luks VL; Kamitaki N; Vivero MP; Uller W; Rab R; Bovée JV; Rialon KL; Guevara CJ; Alomari AI; Greene AK; Fishman SJ; Kozakewich HP; Maclellan RA; Mulliken JB; Rahbar R; Spencer SA; Trenor CC; Upton J; Zurakowski D; Perkins JA; Kirsh A; Bennett JT; Dobyns WB; Kurek KC; Warman ML; McCarroll SA; Murillo R J Pediatr 2015[Apr]; 166 (4): 1048-54.e1-5 PMID25681199show ga Objectives: To test the hypothesis that somatic PIK3CA mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). Study design: We used next generation sequencing, droplet digital PCR (ddPCR), and single molecule molecular inversion probes (smMIPs) to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children?s Hospital who had an isolated LM (n=17), KTS (n=21), fibro-adipose vascular anomaly (FAVA; n=8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (CLOVES; n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n=31) from Seattle Children?s Hospital. Results: Most individuals from Boston Children?s Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), FAVA (4/8), and CLOVES (30/32) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ~ 80% of cases. Seventy-four percent of patients with LM from Seattle Children?s Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. Conclusions: Somatic PIK3CA mutations are the most common cause of isolated lymphatic malformations and disorders in which lymphatic malformation is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism, because the abundance of mutant cells in a malformed tissue can be low. äLymphatic and other vascular malformative/overgrowth disorders are cau(epmc).pdf DeepDyve Pubget Overpricing