title: Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease. A cytogenetic and in situ hybridization study.
abstract: We describe the cytogenetic findings in a recurrent neurofibrosarcoma in a patient with nonfamilial von Recklinghausen disease. The composite karyotype was: 40,Y,-X,+dic r(X;20)(:Xp22.2----q26::20p13----q13:), -1, +der(1)t(1;3) (p21;p24),-3,-4,-5,+der(5) t(5;?)(q31;?),-9,-9,+der(9)t(3;9)(q21 or q13;p24 or p22), -11,+der(11)t(11;?)(q22.2;?), -17,+der(17)t(17; 22;?)(q21;q13.1;?), -20, -21, -22, -22, +der(22)t(17; 22;?)(q21;q13.1;?),t(2;10)(q37;q22). The derivative chromosomes were demonstrated at the 500 band level. Chromosomes 17 and 22 were shown to be involved in an unbalanced three-way translocation: t(17;22;?)(q21;q13.1;?). This event was confirmed by in situ hybridization, using two probes mapped to chromosome 17. Hill H is a probe derived from the novel oncogene TRE and is located at 17q12-22. The second probe, derived from the granulocyte colony-stimulating factor (G-CSF), is located at 17q11-q21. The rearrangement between chromosomes 17 and 22 showed breakpoints similar or close to the gene loci for neurofibromatosis 1 (NF-1) and NF-2. Based on our observations we recommend that genetic studies on NF-1 tumors include both gene sites (NF-1 and NF-2) rather than focus on one gene locus.
authors.affiliation: Cancer Center of the Southwest Biomedical Research Institute, Scottsdale, AZ 85251.
authors.forename: H J
authors.initials: HJ
authors.lastname: Decker
authors.forename: L A
authors.initials: LA
authors.lastname: Cannizzaro
authors.forename: M J
authors.initials: MJ
authors.lastname: Mendez
authors.forename: S P
authors.initials: SP
authors.lastname: Leong
authors.forename: H
authors.initials: H
authors.lastname: Bixenman
authors.forename: C
authors.initials: C
authors.lastname: Berger
authors.forename: A A
authors.initials: AA
authors.lastname: Sandberg
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009455:Neurofibroma / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009693:Nucleic Acid Hybridization
chemical_list: D005819:Genetic Markers