An association of Hutchinson-Gilford progeria and malignancy

Mutations in the LMNA gene encoding lamins A/C are responsible for a variety of disorders, commonly referred to as laminopathies, including the segmental premature aging syndrome Hutchinson-Gilford progeria. We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11-year-old girl carrying a truncating heterozygous c. I 868C > G (p.T623S) prelamin A Mutation. These findings are discussed in light of recent data on the pathophysiological mechanisms underlying progeria and physiological aging in human, as well as previous data on other well-known segmental aging syndromes. (C) 2007 Wiley-Liss, Inc.