Background: Macrodactyly is a congenital disease characterized by the aggressive overgrowth of adipose tissue in digits or limbs, with or without hyperostosis and nerve enlargement. Somatic mutations in PIK3CA contribute to heterogeneous segmental overgrowth phenotypes. To reveal the pathological feature of this disease, the biological characteristics of adipose-derived stem cells (ADSCs) in macrodactyly (Mac-ADSCs) were systematically investigated in this study. Methods: Cell morphology was observed by microscopy; cell surface markers, cell cycle, and apoptosis were analyzed by flow cytometry, and cell proliferation was evaluated using MTT assay. Adipogenic, osteogenetic, and chondrogenic differentiation potential were also tested. Results: Compared with the ADSCs in human abdominal subcutaneous adipose tissue (Sat-ADSCs), the Mac-ADSCs showed no obvious difference in the expression of CD markers and cell apoptosis. But the proliferative activity enhanced obviously in vitro (P < .05).The osteogenic capability significantly increased and chondrogenic potential also enhanced, while the adipogenic potential was decreased. Conclusions: These biological characteristics were in accordance with the clinical manifestation of abnormal fat accumulation and bone hypertrophy in macrodactyly. Thus, early surgical intervention of the disease may be beneficial for controlling osteogenesis of the digits.
