FISH was not performed to confirm TGFBR3 and/or MGEA5 rearrangement in both cases.
FISH demonstrated that break points of t(1;10)(p22;q24) translocation occurred within gene loci of TGFBR3 on chromosome 1p22 and MGEA5 on chromosome 10q24, (7) resulting in juxtaposed TGFBR3 and MGEA5 genes on the derivative chromosome 10.
(7) One unique feature of this translocation is the assumption that an oncogenic chimeric TGFBR3/MGEA5 protein is not formed because the 3' sequences from TGFBR3 and MGEA5 are juxtaposed in opposite directions on the der(10)t(1;10) chromosome.
The unbalanced translocation causes heterozygosity of TGFBR3 and MGEA5, which theoretically should reduce full-length mRNA and protein expression by half.
(58-66) TGFBR3 is considered to be a tumor suppressor gene.
TGFBR3 (also called [beta]-glycan) is 1 of the 3 cell surface receptors for TGF-[beta] cytokine.
The fact that t(1;10) TGFBR3/MGEA5 rearrangement only occurred in these tumors implicates the potential functional significance of both TGFBR3 and MGEA5 in the tumorigenesis of these lesions, an idea that merits further investigation.
TGFBR3 and MGEA5 rearrangements in pleomorphic hyalinizing angiectatic tumors and the spectrum of related neoplasms.