ATCs are characterized by a complex background of genetic mutations, normally involving genes related to the MAPK signaling pathway [BRAF p.V600E (40–70%), RAS (24–43%)], the PI3K/AKT pathway [PIK3CA (10–18%), PTEN (10–15%)], and the TP53 (60–80%) and TERT promotor (65–75%) [3,4,5]. The gene discussed is PIK3CA; the disease is Ehlers-Danlos syndrome, musculocontractural type.