Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease - A cytogenetic and in situ hybridization study

Hans Joachim H. Decker, Linda A. Cannizzaro, Michael J. Mendez, Stanley P.L. Leong, Helen Bixenman, Carol Berger, Avery A. Sandberg

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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.

Original languageEnglish (US)
Pages (from-to)337-342
Number of pages6
JournalHuman Genetics
Volume85
Issue number3
DOIs
Publication statusPublished - Aug 1 1990

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Decker, H. J. H., Cannizzaro, L. A., Mendez, M. J., Leong, S. P. L., Bixenman, H., Berger, C., & Sandberg, A. A. (1990). Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease - A cytogenetic and in situ hybridization study. Human Genetics, 85(3), 337-342. https://doi.org/10.1007/BF00206758