title: SNP array and FISH findings in two pleomorphic hyalinizing angiectatic tumors.
abstract: Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare soft tissue tumor of intermediate malignancy and uncertain cellular origin and lineage of differentiation. Although PHAT is still poorly characterized at the genetic level, there is a potential genetic overlap with two other soft tissue tumors: myxoinflammatory fibroblastic sarcoma (MIFS) and hemosiderotic fibrolipomatous tumor (HFLT); MIFS and HFLT share a characteristic t(1;10)(p22;q24) with breakpoints in the TGFBR3 locus on chromosome 1 and near the MGEA5 locus on chromosome 10. Recently, a PHAT with a similar t(1;10) was reported, suggesting a genetic link between MIFS/HFLT and PHAT. To ascertain whether PHAT is also associated with this translocation, two cases were subjected to single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization analyses. Neither PHAT showed a t(1;10) or other types of rearrangement of the TGFBR3 or MGEA5 loci. Both tumors showed imbalances in the SNP array analysis, but none was shared. Thus, the results indicate that PHAT is genetically distinguishable from MIFS and HFLT, but further studies are needed to identify the salient genetic pathways involved in PHAT development.
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
authors.forename: Arezoo
authors.initials: A
authors.lastname: Mohajeri
authors.forename: Lars-Gunnar
authors.initials: LG
authors.lastname: Kindblom
authors.forename: Vaiyapuri P
authors.initials: VP
authors.lastname: Sumathi
authors.forename: Otte
authors.initials: O
authors.lastname: Brosjö
authors.forename: Linda
authors.initials: L
authors.lastname: Magnusson
authors.forename: Jenny
authors.initials: J
authors.lastname: Nilsson
authors.forename: Karolin H
authors.initials: KH
authors.lastname: Nord
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
mesh_terms: D000328:Adult; D001808:Blood Vessels / Q000473:pathology*; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000098:blood supply* / Q000235:genetics*