Facial infiltrating lipomatosis contains somatic PIK3CA mutations in multiple tissues
JA Couto, MP Vivero, J Upton, BL Padwa… - Plastic and …, 2015 - journals.lww.com
JA Couto, MP Vivero, J Upton, BL Padwa, ML Warman, JB Mulliken, AK Greene
Plastic and Reconstructive Surgery, 2015•journals.lww.comMATERIALS AND METHODS: We obtained FIL tissue from 2 patients during a clinically-
indicated procedure. We isolated skin, subcutaneous fat, muscle, buccal fat, and mucosal
neuroma tissues, and cultured CD31+ endothelial cells. We then performed droplet digital
PCR (ddPCR) on DNA from each tissue and the cultured endothelial cells to determine the
frequencies of PIK3CA mutant alleles in the different tissues. RESULTS: In one FIL
specimen we identified a p. H1047R mutation that was present at allele frequencies of 5.5 …
indicated procedure. We isolated skin, subcutaneous fat, muscle, buccal fat, and mucosal
neuroma tissues, and cultured CD31+ endothelial cells. We then performed droplet digital
PCR (ddPCR) on DNA from each tissue and the cultured endothelial cells to determine the
frequencies of PIK3CA mutant alleles in the different tissues. RESULTS: In one FIL
specimen we identified a p. H1047R mutation that was present at allele frequencies of 5.5 …
MATERIALS AND METHODS: We obtained FIL tissue from 2 patients during a clinically-indicated procedure. We isolated skin, subcutaneous fat, muscle, buccal fat, and mucosal neuroma tissues, and cultured CD31+ endothelial cells. We then performed droplet digital PCR (ddPCR) on DNA from each tissue and the cultured endothelial cells to determine the frequencies of PIK3CA mutant alleles in the different tissues.
RESULTS: In one FIL specimen we identified a p. H1047R mutation that was present at allele frequencies of 5.5% in skin, 17.6% in subcutis, 23.2% in buccal fat, 12.5% in mucosal neuroma, and 1.2% in endothelial cells. In a second FIL specimen, we identified a p. H1047L mutation that was present at allele frequencies of 5.6% in muscle, 16.2% in subcutis, and 1.5% in endothelial cells (Figure 1).
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