Skip to main content
Erschienen in: Virchows Archiv 4/2005

01.04.2005 | Original Article

Amplification of NOTCH1 and ABL1 gene loci is a frequent aberration in enteropathy-type T-cell lymphoma

verfasst von: Pavlina Cejkova, Andreas Zettl, Anne K. Baumgärtner, Andreas Chott, German Ott, Hans Konrad Müller-Hermelink, Petr Starostik

Erschienen in: Virchows Archiv | Ausgabe 4/2005

Einloggen, um Zugang zu erhalten

Abstract

We have shown previously that amplification of chromosomal region 9q34 is the most frequent aberration in enteropathy-type T-cell lymphoma (ETL). To determine the minimum amplified 9q34 region and identify possible candidate gene(s), we performed a detailed microsatellite screening and quantitative real-time PCR (QPCR) on 26 ETL cases. Microsatellite analysis revealed allelic imbalance in both ABL1 and NOTCH1 gene loci (microsatellites D9S290–D9S1847 and D9S158 flanking the former and latter genes, respectively) localized in the band 9q34. The results were confirmed by TaqMan-based QPCR showing amplification of ABL1 and NOTCH1 exons in 50% and 65% of cases, respectively. Amplifications of the NOTCH1 gene were more frequent than of the ABL1 gene; moreover, the analyzed NOTCH1 exon consistently displayed higher levels of amplification than ABL1 coding sequences. From 9q34 known genes, NOTCH1 could thus be the primary target of genomic DNA amplification in ETL.
Literatur
1.
Zurück zum Zitat Aster JC, Xu L, Karnell FG et al (2000) Essential roles for ankyrin repeat and transactivation domains in induction of T-cell leukemia by notch1. Mol Cell Biol 20:7505–7515 Aster JC, Xu L, Karnell FG et al (2000) Essential roles for ankyrin repeat and transactivation domains in induction of T-cell leukemia by notch1. Mol Cell Biol 20:7505–7515
2.
Zurück zum Zitat Baumgartner AK, Zettl A, Chott A et al (2003) High frequency of genetic aberrations in enteropathy-type T-cell lymphoma. Lab Invest 83:1509–1516 Baumgartner AK, Zettl A, Chott A et al (2003) High frequency of genetic aberrations in enteropathy-type T-cell lymphoma. Lab Invest 83:1509–1516
3.
Zurück zum Zitat Bush G, diSibio G, Miyamoto A et al (2001) Ligand-induced signaling in the absence of furin processing of Notch1. Dev Biol 229:494–502 Bush G, diSibio G, Miyamoto A et al (2001) Ligand-induced signaling in the absence of furin processing of Notch1. Dev Biol 229:494–502
4.
Zurück zum Zitat Carbonnel F, Lavergne A, Messing B et al (1994) Extensive small enteropathy-type T-cell lymphoma of low-grade malignancy associated with a new chromosomal translocation. Cancer 73:1286–1291 Carbonnel F, Lavergne A, Messing B et al (1994) Extensive small enteropathy-type T-cell lymphoma of low-grade malignancy associated with a new chromosomal translocation. Cancer 73:1286–1291
5.
Zurück zum Zitat Collins SJ, Groudine MT (1983) Rearrangement and amplification of c-abl sequences in the human chronic myelogenous leukemia cell line K-562. Proc Natl Acad Sci U S A 80:4813–4817 Collins SJ, Groudine MT (1983) Rearrangement and amplification of c-abl sequences in the human chronic myelogenous leukemia cell line K-562. Proc Natl Acad Sci U S A 80:4813–4817
6.
Zurück zum Zitat De Klein A, van Kessel AG, Grosveld G et al (1982) A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 300:765–767 De Klein A, van Kessel AG, Grosveld G et al (1982) A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 300:765–767
7.
Zurück zum Zitat De Klein A, Hagemeijer A, Bartram CR et al (1986) bcr rearrangement and translocation of the c-abl oncogene in Philadelphia positive acute lymphoblastic leukemia. Blood 68:1369–1375 De Klein A, Hagemeijer A, Bartram CR et al (1986) bcr rearrangement and translocation of the c-abl oncogene in Philadelphia positive acute lymphoblastic leukemia. Blood 68:1369–1375
8.
Zurück zum Zitat Deftos ML, Bevan MJ (2000) Notch signaling in T cell development. Curr Opin Immunol 12:166–172 Deftos ML, Bevan MJ (2000) Notch signaling in T cell development. Curr Opin Immunol 12:166–172
9.
Zurück zum Zitat Ellisen LW, Bird J, West DC et al (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 66:649–661 Ellisen LW, Bird J, West DC et al (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 66:649–661
10.
Zurück zum Zitat Ferguson A, Kingstone K (1996) Coeliac disease and malignancies. Acta Paediatr Suppl 412:78–81 Ferguson A, Kingstone K (1996) Coeliac disease and malignancies. Acta Paediatr Suppl 412:78–81
11.
Zurück zum Zitat Golub TR, Goga A, Barker GF et al (1996) Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia. Mol Cell Biol 16:4107–4116 Golub TR, Goga A, Barker GF et al (1996) Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia. Mol Cell Biol 16:4107–4116
12.
Zurück zum Zitat Graux C, Cools J, Melotte C et al (2004) Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet 36:1084–1089 Graux C, Cools J, Melotte C et al (2004) Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet 36:1084–1089
13.
Zurück zum Zitat Howell WM, Leung ST, Jones DB et al (1995) HLA-DRB, -DQA, and -DQB polymorphism in celiac disease and enteropathy-associated T-cell lymphoma. Common features and additional risk factors for malignancy. Hum Immunol 43:29–37 Howell WM, Leung ST, Jones DB et al (1995) HLA-DRB, -DQA, and -DQB polymorphism in celiac disease and enteropathy-associated T-cell lymphoma. Common features and additional risk factors for malignancy. Hum Immunol 43:29–37
14.
Zurück zum Zitat Iso T (2001) HERP, a novel heterodimer partner of HES/E(spl) in Notch signaling. Mol Cell Biol 21:6080–6089CrossRefPubMed Iso T (2001) HERP, a novel heterodimer partner of HES/E(spl) in Notch signaling. Mol Cell Biol 21:6080–6089CrossRefPubMed
15.
Zurück zum Zitat Jaffe ES, Harris NL, Stein H et al (2001) Pathology and genetics of tumours of haematopoietic and lymphoid tissues. World Health Organization classification of tumours. IARC Press, Lyon, pp 157–160 Jaffe ES, Harris NL, Stein H et al (2001) Pathology and genetics of tumours of haematopoietic and lymphoid tissues. World Health Organization classification of tumours. IARC Press, Lyon, pp 157–160
16.
Zurück zum Zitat Jaiswal S, Traver D, Miyamoto T et al (2003) Expression of BCR/ABL and BCL-2 in myeloid progenitors leads to myeloid leukemias. Proc Natl Acad Sci U S A 100:10002–10007 Jaiswal S, Traver D, Miyamoto T et al (2003) Expression of BCR/ABL and BCL-2 in myeloid progenitors leads to myeloid leukemias. Proc Natl Acad Sci U S A 100:10002–10007
17.
Zurück zum Zitat Jundt F, Anagnostopoulos I, Forster R et al (2002) Activated Notch1 signaling promotes tumor cell proliferation and survival in Hodgkin and anaplastic large cell lymphoma. Blood 99:3398–3403 Jundt F, Anagnostopoulos I, Forster R et al (2002) Activated Notch1 signaling promotes tumor cell proliferation and survival in Hodgkin and anaplastic large cell lymphoma. Blood 99:3398–3403
18.
Zurück zum Zitat Kenner L, Beham-Schmid C, Kerbl R et al (1999) ABL amplification in a patient with lymphoid blast crisis of chronic myelogenous leukaemia. Virchows Arch 434:255–257 Kenner L, Beham-Schmid C, Kerbl R et al (1999) ABL amplification in a patient with lymphoid blast crisis of chronic myelogenous leukaemia. Virchows Arch 434:255–257
19.
Zurück zum Zitat Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25:402–408CrossRefPubMed Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25:402–408CrossRefPubMed
20.
Zurück zum Zitat Morimura T, Goitsuka R, Zhang Y et al (2000) Cell cycle arrest and apoptosis induced by Notch1 in B cells. J Biol Chem 275:36523–36531 Morimura T, Goitsuka R, Zhang Y et al (2000) Cell cycle arrest and apoptosis induced by Notch1 in B cells. J Biol Chem 275:36523–36531
21.
Zurück zum Zitat Nair P, Somasundaram K, Krishna S (2003) Activated Notch1 inhibits p53-induced apoptosis and sustains transformation by human papillomavirus type 16 E6 and E7 oncogenes through a PI3K-PKB/Akt-dependent pathway. J Virol 77:7106–7112 Nair P, Somasundaram K, Krishna S (2003) Activated Notch1 inhibits p53-induced apoptosis and sustains transformation by human papillomavirus type 16 E6 and E7 oncogenes through a PI3K-PKB/Akt-dependent pathway. J Virol 77:7106–7112
22.
Zurück zum Zitat Nakagawa O (2000) Members of the HRT family of basic helix–loop–helix proteins act as transcriptional repressors downstream of Notch signaling. Proc Natl Acad Sci U S A 97:13655–13660 Nakagawa O (2000) Members of the HRT family of basic helix–loop–helix proteins act as transcriptional repressors downstream of Notch signaling. Proc Natl Acad Sci U S A 97:13655–13660
23.
Zurück zum Zitat Ordentlich P, Lin A, Shen CP et al (1998) Notch inhibition of E47 supports the existence of a novel signaling pathway. Mol Cell Biol 18:2230–2239 Ordentlich P, Lin A, Shen CP et al (1998) Notch inhibition of E47 supports the existence of a novel signaling pathway. Mol Cell Biol 18:2230–2239
24.
Zurück zum Zitat Ott G, Katzenberger T, Siebert R et al (1998) Chromosomal abnormalities in nodal and extranodal CD30+ anaplastic large cell lymphomas: infrequent detection of the t(2;5) in extranodal lymphomas. Genes Chromosomes Cancer 22:114–121 Ott G, Katzenberger T, Siebert R et al (1998) Chromosomal abnormalities in nodal and extranodal CD30+ anaplastic large cell lymphomas: infrequent detection of the t(2;5) in extranodal lymphomas. Genes Chromosomes Cancer 22:114–121
25.
Zurück zum Zitat Pear WS, Aster JC, Scott ML et al (1996) Exclusive development of T cell neoplasms in mice transplanted with bone marrow expressing activated Notch alleles. J Exp Med 183:2283–2291 Pear WS, Aster JC, Scott ML et al (1996) Exclusive development of T cell neoplasms in mice transplanted with bone marrow expressing activated Notch alleles. J Exp Med 183:2283–2291
26.
Zurück zum Zitat Sade H, Krishna S, Sarin A (2004) The anti-apoptotic effect of Notch-1 requires p56lck-dependent, Akt/PKB-mediated signaling in T cells. J Biol Chem 279:2937–2944 Sade H, Krishna S, Sarin A (2004) The anti-apoptotic effect of Notch-1 requires p56lck-dependent, Akt/PKB-mediated signaling in T cells. J Biol Chem 279:2937–2944
27.
Zurück zum Zitat Skorski T, Bellacosa A, Nieborowska-Skorska M et al (1997) Transformation of hematopoietic cells by BCR/ABL requires activation of a PI-3k/Akt-dependent pathway. EMBO J 16:6151–6161 Skorski T, Bellacosa A, Nieborowska-Skorska M et al (1997) Transformation of hematopoietic cells by BCR/ABL requires activation of a PI-3k/Akt-dependent pathway. EMBO J 16:6151–6161
28.
Zurück zum Zitat Tanaka K, Arif M, Eguchi M et al (1997) Frequent jumping translocations of chromosomal segments involving the ABL oncogene alone or in combination with CD3-MLL genes in secondary leukemias. Blood 89:596–600 Tanaka K, Arif M, Eguchi M et al (1997) Frequent jumping translocations of chromosomal segments involving the ABL oncogene alone or in combination with CD3-MLL genes in secondary leukemias. Blood 89:596–600
29.
Zurück zum Zitat Trainor KJ, Brisco MJ, Wan JH et al (1991) Gene rearrangement in B- and T-lymphoproliferative disease detected by the polymerase chain reaction. Blood 78:192–196 Trainor KJ, Brisco MJ, Wan JH et al (1991) Gene rearrangement in B- and T-lymphoproliferative disease detected by the polymerase chain reaction. Blood 78:192–196
30.
Zurück zum Zitat Wright DH, Jones DB, Clark H et al (1991) Is adult-onset coeliac disease due to a low-grade lymphoma of intraepithelial T lymphocytes? Lancet 337:1373–1374 Wright DH, Jones DB, Clark H et al (1991) Is adult-onset coeliac disease due to a low-grade lymphoma of intraepithelial T lymphocytes? Lancet 337:1373–1374
31.
Zurück zum Zitat Xie S, Wang Y, Liu J et al (2001) Involvement of Jak2 tyrosine phosphorylation in Bcr–Abl transformation. Oncogene 20:6188–6195 Xie S, Wang Y, Liu J et al (2001) Involvement of Jak2 tyrosine phosphorylation in BcrAbl transformation. Oncogene 20:6188–6195
32.
Zurück zum Zitat Zettl A, Ott G, Makulik A et al (2002) Chromosomal gains at 9q characterize enteropathy-type T-cell lymphoma. Am J Pathol 161:1635–1645 Zettl A, Ott G, Makulik A et al (2002) Chromosomal gains at 9q characterize enteropathy-type T-cell lymphoma. Am J Pathol 161:1635–1645
Metadaten
Titel
Amplification of NOTCH1 and ABL1 gene loci is a frequent aberration in enteropathy-type T-cell lymphoma
verfasst von
Pavlina Cejkova
Andreas Zettl
Anne K. Baumgärtner
Andreas Chott
German Ott
Hans Konrad Müller-Hermelink
Petr Starostik
Publikationsdatum
01.04.2005
Erschienen in
Virchows Archiv / Ausgabe 4/2005
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-005-1214-6

Weitere Artikel der Ausgabe 4/2005

Virchows Archiv 4/2005 Zur Ausgabe

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Open Access Biomarker Leitthema

Um auch an kleinen Gewebeproben zuverlässige und reproduzierbare Ergebnisse zu gewährleisten ist eine strenge Qualitätskontrolle in jedem Schritt des Arbeitsablaufs erforderlich. Eine nicht ordnungsgemäße Prüfung oder Behandlung des …

Vergleichende Pathologie in der onkologischen Forschung

Pathologie Leitthema

Die vergleichende experimentelle Pathologie („comparative experimental pathology“) ist ein Fachbereich an der Schnittstelle von Human- und Veterinärmedizin. Sie widmet sich der vergleichenden Erforschung von Gemeinsamkeiten und Unterschieden von …

Gastrointestinale Stromatumoren

Open Access GIST CME-Artikel

Gastrointestinale Stromatumoren (GIST) stellen seit über 20 Jahren ein Paradigma für die zielgerichtete Therapie mit Tyrosinkinaseinhibitoren dar. Eine elementare Voraussetzung für eine mögliche neoadjuvante oder adjuvante Behandlung bei …

Personalisierte Medizin in der Onkologie

Aufgrund des erheblichen technologischen Fortschritts in der molekularen und genetischen Diagnostik sowie zunehmender Erkenntnisse über die molekulare Pathogenese von Krankheiten hat in den letzten zwei Jahrzehnten ein grundlegender …