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

Research output: Contribution to journalArticle

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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
StatePublished - Aug 1990
Externally publishedYes

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Neurofibrosarcoma
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 17
Neurofibromatosis 1
Neurofibromatosis 1 Genes
Cytogenetics
In Situ Hybridization
Granulocyte Colony-Stimulating Factor
Karyotype
Oncogenes
Chromosomes
Genes
Neoplasms

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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

Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease - A cytogenetic and in situ hybridization study. / Decker, Hans Joachim H; Cannizzaro, Linda A.; Mendez, Michael J.; Leong, Stanley P L; Bixenman, Helen; Berger, Carol; Sandberg, Avery A.

In: Human Genetics, Vol. 85, No. 3, 08.1990, p. 337-342.

Research output: Contribution to journalArticle

Decker, HJH, Cannizzaro, LA, Mendez, MJ, Leong, SPL, Bixenman, H, Berger, C & Sandberg, AA 1990, 'Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease - A cytogenetic and in situ hybridization study', Human Genetics, vol. 85, no. 3, pp. 337-342. https://doi.org/10.1007/BF00206758
Decker, Hans Joachim H ; Cannizzaro, Linda A. ; Mendez, Michael J. ; Leong, Stanley P L ; Bixenman, Helen ; Berger, Carol ; Sandberg, Avery A. / Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease - A cytogenetic and in situ hybridization study. In: Human Genetics. 1990 ; Vol. 85, No. 3. pp. 337-342.
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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.",
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AU - Berger, Carol

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AB - 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.

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