title: Allelic loss on chromosome 22q in epithelioid sarcomas.
abstract: Epithelioid sarcomas are soft tissue tumors with an indolent, but potentially aggressive, clinical behavior. Distinction from other benign and malignant entities may be a diagnostic dilemma. In this study, we evaluate the presence of loss of heterozygosity (LOH) of chromosome 22q in tumor DNA from 13 epithelioid sarcomas, four epithelioid angiosarcomas, and two epithelioid hemangioendotheliomas, and investigate its possible role in diagnosis. LOH was detected in 6 of 10 (60%) of the informative epithelioid sarcomas. No allele loss was detected in the informative vascular tumors, three angiosarcomas, and two hemangioendotheliomas. Chromosome 22q carries the locus of a tumor suppressor gene, the neurofibromatosis 2 (NF2) gene, which has been shown to be lost or mutated in some NF2-related tumors, sporadic meningiomas, and vestibular schwannomas, as well as a few other tumors. Our data suggest that a region of chromosome 22q may be the locus of a tumor suppressor gene involved in the tumorigenesis of these neoplasms. Genetic alterations of yet-unknown tumor suppressor genes in this region, or even the NF2 tumor suppressor gene, may play a role in epithelioid sarcomas tumorigenesis. The fact that LOH was only detected in epithelioid sarcomas and not in the vascular tumors studied suggests a possible role for this marker in diagnosis.
authors.affiliation: Laboratory of Pathology, Surgical Pathology Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: M M
authors.initials: MM
authors.lastname: Quezado
authors.forename: L P
authors.initials: LP
authors.lastname: Middleton
authors.forename: B
authors.initials: B
authors.lastname: Bryant
authors.forename: K
authors.initials: K
authors.lastname: Lane
authors.forename: S W
authors.initials: SW
authors.lastname: Weiss
authors.forename: M J
authors.initials: MJ
authors.lastname: Merino
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D018323:Hemangioendothelioma, Epithelioid / Q000235:genetics / Q000473:pathology; D006394:Hemangiosarcoma / Q000235:genetics / Q000473:pathology; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012509:Sarcoma / Q000235:genetics* / Q000556:secondary; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm