Chromosome abnormalities of the short arm of chromosome 12 in hematopoietic malignancies: A report including three novel translocations involving the TEL/ETV6 gene

R. Berger; M. Le Coniat; V. Lacronique; M. T. Daniel; M. Lessard; C. Berthou; P. Marynen; O. Bernard

doi:10.1038/sj.leu.2400785

Chromosome abnormalities of the short arm of chromosome 12 in hematopoietic malignancies: A report including three novel translocations involving the TEL/ETV6 gene

R. Berger, M. Le Coniat, V. Lacronique, M. T. Daniel, M. Lessard, C. Berthou, P. Marynen, O. Bernard

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Résumé

A wide variety of abnormalities of the short arm of chromosome 12 has been reported in hematologic malignancies. The most frequent rearrangements result from t(12;21)(p13;q22) of childhood acute lymphoblastic leukemia, a translocation cryptic when leukemic cells are analyzed with chromosome banding techniques. This translocation results in a fusion of the TEL/ETV6 and AML1 genes. In this report, examples of rearrangements of 12p are presented. Study of two complex chromosome abnormalities associated with t(12;21) emphasizes the importance of using FISH in detection of such translocations. Three novel translocations involving the TEL/ETV6 gene localized on 12p13 are also reported: t(X;12)(q28;p13), t(1;12)(q21;p13), and t(9;12)(p23-24;p13). Finally, the presentation of two translocations with breakpoints located centromeric to TEL/ETV6 highlights the not uncommon involvement of genes other than TEL/ETV6 on 12p.

langue originale	Anglais
Pages (de - à)	1400-1403
Nombre de pages	4
journal	Leukemia
Volume	11
Numéro de publication	9
Les DOIs	https://doi.org/10.1038/sj.leu.2400785
état	Publié - 1 janv. 1997

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10.1038/sj.leu.2400785

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@article{9f3352b1f3694548b39046f942ba2e90,

title = "Chromosome abnormalities of the short arm of chromosome 12 in hematopoietic malignancies: A report including three novel translocations involving the TEL/ETV6 gene",

abstract = "A wide variety of abnormalities of the short arm of chromosome 12 has been reported in hematologic malignancies. The most frequent rearrangements result from t(12;21)(p13;q22) of childhood acute lymphoblastic leukemia, a translocation cryptic when leukemic cells are analyzed with chromosome banding techniques. This translocation results in a fusion of the TEL/ETV6 and AML1 genes. In this report, examples of rearrangements of 12p are presented. Study of two complex chromosome abnormalities associated with t(12;21) emphasizes the importance of using FISH in detection of such translocations. Three novel translocations involving the TEL/ETV6 gene localized on 12p13 are also reported: t(X;12)(q28;p13), t(1;12)(q21;p13), and t(9;12)(p23-24;p13). Finally, the presentation of two translocations with breakpoints located centromeric to TEL/ETV6 highlights the not uncommon involvement of genes other than TEL/ETV6 on 12p.",

keywords = "12p abnormalities, Chromosomes, ETV6, Leukemia",

author = "R. Berger and {Le Coniat}, M. and V. Lacronique and Daniel, {M. T.} and M. Lessard and C. Berthou and P. Marynen and O. Bernard",

note = "Funding Information: We sincerely acknowledge C-J Larsen for fruitful discussions and Denis Le Paslier (CEPH, Paris) for providing us with the YAC probes. This work was supported in part by the Fond- ation contre la Leuc{\'e}mie and the Ligue Nationale contre le Cancer.",

year = "1997",

month = jan,

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doi = "10.1038/sj.leu.2400785",

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volume = "11",

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T1 - Chromosome abnormalities of the short arm of chromosome 12 in hematopoietic malignancies

T2 - A report including three novel translocations involving the TEL/ETV6 gene

AU - Berger, R.

AU - Le Coniat, M.

AU - Lacronique, V.

AU - Daniel, M. T.

AU - Lessard, M.

AU - Berthou, C.

AU - Marynen, P.

AU - Bernard, O.

N1 - Funding Information: We sincerely acknowledge C-J Larsen for fruitful discussions and Denis Le Paslier (CEPH, Paris) for providing us with the YAC probes. This work was supported in part by the Fond- ation contre la Leucémie and the Ligue Nationale contre le Cancer.

PY - 1997/1/1

Y1 - 1997/1/1

N2 - A wide variety of abnormalities of the short arm of chromosome 12 has been reported in hematologic malignancies. The most frequent rearrangements result from t(12;21)(p13;q22) of childhood acute lymphoblastic leukemia, a translocation cryptic when leukemic cells are analyzed with chromosome banding techniques. This translocation results in a fusion of the TEL/ETV6 and AML1 genes. In this report, examples of rearrangements of 12p are presented. Study of two complex chromosome abnormalities associated with t(12;21) emphasizes the importance of using FISH in detection of such translocations. Three novel translocations involving the TEL/ETV6 gene localized on 12p13 are also reported: t(X;12)(q28;p13), t(1;12)(q21;p13), and t(9;12)(p23-24;p13). Finally, the presentation of two translocations with breakpoints located centromeric to TEL/ETV6 highlights the not uncommon involvement of genes other than TEL/ETV6 on 12p.

AB - A wide variety of abnormalities of the short arm of chromosome 12 has been reported in hematologic malignancies. The most frequent rearrangements result from t(12;21)(p13;q22) of childhood acute lymphoblastic leukemia, a translocation cryptic when leukemic cells are analyzed with chromosome banding techniques. This translocation results in a fusion of the TEL/ETV6 and AML1 genes. In this report, examples of rearrangements of 12p are presented. Study of two complex chromosome abnormalities associated with t(12;21) emphasizes the importance of using FISH in detection of such translocations. Three novel translocations involving the TEL/ETV6 gene localized on 12p13 are also reported: t(X;12)(q28;p13), t(1;12)(q21;p13), and t(9;12)(p23-24;p13). Finally, the presentation of two translocations with breakpoints located centromeric to TEL/ETV6 highlights the not uncommon involvement of genes other than TEL/ETV6 on 12p.

KW - 12p abnormalities

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