Homozygous structural rearrangement 16p13: a mechanism of tumorigenesis in sporadic renal angiomyolipoma?

摘要

Angiomyolipoma (AML) is a neoplasm of various mesenchymal components including blood vessel, smooth muscle, epithelioid cell and mature adipose tissue [Friedman and Ash, 1946; Miettinen, 2003]. Initially considered to be a hamartomatous growth in the kidney, AML has been reported in various organs [Chen and Bauer, 1984]. Although controversial, it is believed to be a neoplastic process in a family of tumors called PEComas (tumors of peri-vascular epithelioid cells) [Hornick and Fletcher, 2006], and im-munophenotypic characterization among various components suggests a common cell line [Stone et a!., 2001]. AML occurs in association with hereditary disorders including tuberous sclerosis complex (TSC), von Hippel-Lindau syndrome, and autosomal dominant polycystic kidney disease; however, 80% of cases are isolated and sporadic [Nelson and Sanda, 2002; Pillay et al, 2003]. TSC-associated angiomyolipomas are often small, multicentric and bilateral, while sporadic AML tends to be solitary. Histologically, they cannot be distinguished one from another [Nelson and Sanda, 2002; Pillay et al., 2003]. As reviewed by Mitelman et al. [2008], cytogenetic analysis of sporadic angiomyolipoma has been limited with clonal chromosomal alterations found in 7 of 19 sporadic cases.