Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease

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.

Cytogenetic findings in malignant triton tumor

“…Three copies of chromosome 22 and rearrangements of 2q and 7p have also been described in classic malignant schwannoma (Riccardi and Elder, 1986;Decker et al, 1990;Rey et al, 1993b). Furthermore, the gene fot the central form of neurofibromatosis (NF-2), characterized by multiple intracranial or intraspinal tumors [most commonly bilateral acoustic neuromas (benign schwannoma)], has been localized to chromosome 22 (Seizinger et al, 1986(Seizinger et al, , 1987Couturier et al, 1990;Bijlsma et al, 1992;Wolff et al, 1992).…”

Chromosomal imbalances in malignant peripheral nerve sheath tumor detected by metaphase and microarray comparative genomic hybridization

“…In the formation of neurofibromatosis, germ-line mutations occurring in genes, NF1 (17q11.2) and NF2 (22q), play an important role (2). MPNSTs develop in 10-14% of NF1 patients (3). Most patients with MPNST have previously had a benign peripheral nerve sheath tumor (BPNST) (1).…”

Could an osteoinductor result in degeneration of a neurofibroma in NF1?

“…His mother had the same disease and died before her 30th birthday from a malign degeneration of a neurofibroma of the forearm. The reason for malignity can be genetically explained [12,13] Indeed, NF1 is caused due to balanced translocation of the short arm of chromosomes 12 and 17 (exchange of chromosomal material). For NF1, the break of DNA in the mutated gene is near the oncological locus (ERB-A1 on chromosome 17 and SIS on chromosome 22).…”