Leukemia Research
Volume 27, Issue 1 , Pages 23-34 , January 2003

Microsatellite mutations of transforming growth factor-β receptor type II and caspase-5 occur in human precursor T-cell lymphoblastic lymphomas/leukemias in vivo but are not associated with hMSH2 or hMLH1 promoter methylation

  • Stuart Scott

      Affiliations

    • Saskatoon Cancer Centre, Department of Pathology, Royal University Hospital, University of Saskatchewan, 103 Hospital Drive, Saskatoon, SK, Canada S7N 0W8
  • ,
  • Tomofumi Kimura

      Affiliations

    • Saskatoon Cancer Centre, Department of Pathology, Royal University Hospital, University of Saskatchewan, 103 Hospital Drive, Saskatoon, SK, Canada S7N 0W8
  • ,
  • Ryo Ichinohasama

      Affiliations

    • Department of Oral Pathology, Tohoku University, School of Dentistry, 4-1 Seiryo Machi, Aoba-Ku, Sendai 980-8575, Japan
  • ,
  • Susan Bergen

      Affiliations

    • Saskatoon Cancer Centre, Department of Pathology, Royal University Hospital, University of Saskatchewan, 103 Hospital Drive, Saskatoon, SK, Canada S7N 0W8
  • ,
  • Anthony Magliocco

      Affiliations

    • Department of Pathology and Laboratory Medicine, University of Calgary, 3330 Hospital Drive NW, Calgary, Alta, Canada T2N 4N1
  • ,
  • Cara Reimer

      Affiliations

    • Saskatoon Cancer Centre, Department of Pathology, Royal University Hospital, University of Saskatchewan, 103 Hospital Drive, Saskatoon, SK, Canada S7N 0W8
  • ,
  • Annette Kerviche

      Affiliations

    • Saskatoon Cancer Centre, Department of Pathology, Royal University Hospital, University of Saskatchewan, 103 Hospital Drive, Saskatoon, SK, Canada S7N 0W8
  • ,
  • David Sheridan

      Affiliations

    • Saskatoon Cancer Centre, Department of Pathology, Royal University Hospital, University of Saskatchewan, 103 Hospital Drive, Saskatoon, SK, Canada S7N 0W8
  • ,
  • John F. DeCoteau

      Affiliations

    • Saskatoon Cancer Centre, Department of Pathology, Royal University Hospital, University of Saskatchewan, 103 Hospital Drive, Saskatoon, SK, Canada S7N 0W8
    • Corresponding Author InformationCorresponding author. Tel.: +1-306-655-2249; fax: +1-306-655-6791.

Received 19 December 2001 ,Accepted 22 April 2002.

References 

  1. Liu B, Nicolaides NC, Markowitz S, Willson JKV, Parsons RE, Jen J, et al.  Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet. 1995;9:48
  2. Thibodeau SN, French AJ, Roche PC, Cunningham JM, Tester DJ, Lindor NM, et al.  Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res. 1996;56:4836
  3. Umar A, Boyer JC, Thomas DC, Nguyen DC, Risinger JI, Boyd J, et al.  Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability. J. Biol. Chem. 1994;269:14367
  4. Boyer JC, Umar A, Risinger JI, Lipford JR, Kane M, Yin S, et al.  Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. Cancer Res. 1995;55:6063
  5. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, et al.  Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair defective human tumor cell lines. Cancer Res. 1997;57:808
  6. Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JP, et al.  Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc. Natl. Acad. Sci. U.S.A. 1998;95:6870
  7. Simpkins SB, Bocker T, Swisher EM, Mutch DG, Gersell DJ, Kovatich AJ, et al.  hMLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Hum. Mol. Genet. 1999;8:661
  8. Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, et al.  Inactivation of the type II TGFβ receptor in colon cancer cells with microsatellite instability. Science. 1995;268:1336
  9. Yamamoto H, Sawai H, Perucho M. Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res. 1997;57:4420
  10. Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, et al.  Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science. 1997;275:967
  11. Schwartz S, Yamamoto H, Navarro M, Maestro M, Reventos J, Perucho M. Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res. 1999;59:2995
  12. Lowsky R, DeCoteau JF, Reitmair AH, Ichinohasama R, Dong WF, Xu Y, et al.  Defects of the mismatch repair gene MSH2 are implicated in the development of murine and human lymphoblastic lymphomas and are associated with the aberrant expression of rhombotin-2 and TAL-1. Blood. 1997;89:2276
  13. Lowsky R, Magliocco A, Ichinohasama R, Reitmair A, Scott S, Henry M, et al.  hMSH2-deficient murine lymphomas harbor insertion/deletion mutations in the transforming growth factor-β receptor type 2 gene and display low not high frequency microsatellite instability. Blood. 2000;95:1767
  14. Brimmell M, Mendiola R, Mangion J, Packham G. BAX frameshift mutations in cell lines derived from human hematopoietic malignancies are associated with resistance to apoptosis and microsatellite instability. Oncogene. 1998;16:1803
  15. Hangaishi A, Ogawa S, Mitani K, Hosoya N, Chiba S, Yazaki Y, et al.  Defects in hMLH1 in human leukemia and lymphoma cell lines. Blood. 1997;89:1740
  16. Inoue K, Kohno T, Takakura S, Hayashi Y, Mizoguchi H, Yokota J. Frequent microsatellite instability and BAX mutations in T-cell acute lymphoblastic leukemia cell lines. Leuk. Res. 2000;24:255
  17. Inoue K, Kohno T, Takakura S, Hayashi Y, Mizoguchi H, Yokota J. Corrigendum to: frequent microsatellite instability and BAX mutations in T-cell acute lymphoblastic leukemia cell lines. Leuk. Res. 2001;25:275
  18. Onciu M, Lai R, Vega F, Bueso-Ramos C, Medeiros J. Precursor T-cell acute lymphoblastic leukemia: age-related immunophenotypic cytogenic and molecular subsets. Am. J. Clin. Pathol. 2002;117:252
  19. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc. Natl. Acad. Sci. U.S.A. 1996;93:9821
  20. Toyota M, Kopecky KJ, Toyota MO, Jair KW, Willman CL, Issa JP. Methylation profiling in acute myeloid leukemia. Blood. 2001;97:2823
  21. Molenaar JJ, Gerard B, Chambon-Pautas C, Cave H, Duval M, Vilmer E, et al.  Microsatellite instability and frameshift mutations in BAX and transforming growth factor-β RII genes are very uncommon in acute lymphoblastic leukemia in vivo but not in cell lines. Blood. 1998;92:230
  22. McCaffrey TA, Du B, Consigli S, Szabo P, Bray PJ, Hartner L, et al.  Genomic instability in the type II TGFβ1 receptor gene in atherosclerotic and restenotic vascular cells. J. Clin. Invest. 1997;100:2182
  23. Clark KJ, Cary NR, Grace AA, Metcalfe JC. Microsatellite mutation of type II transforming growth factor-β receptor is rare in atherosclerotic plaques. Arterioscler. Thromb. Vasc. Biol. 2001;21:555
  24. Osada H, Tatematsu Y, Masuda A, Saito T, Sugiyama M, Yanagisawa K, et al.  Heterogeneous transforming growth factor (TGF)-β unresponsiveness and loss of TGFβ receptor type II expression caused by histone deacetylation in lung cancer cell lines. Cancer Res. 2001;61:8331
  25. Nakajima T, Akiyama Y, Shiraishi J, Arai T, Yanagisawa Y, Ara M, et al.  Age-related hypermethylation of the hMLH1 promoter in gastric cancers. Int. J. Cancer. 2001;94:208
  26. Gemma A, Takenaka K, Hosoya Y, Matuda K, Seike M, Kurimoto F, et al.  Altered expression of several genes in highly metastatic subpopulations of a human pulmonary adenocarcinoma cell line. Eur. J. Cancer. 2001;37:1554
  27. Krippner-Heidenreich A, Talanian RV, Sekul R, Kraft R, Thole H, Ottleben H, et al.  Targeting of the transcription factor Max during apoptosis: phosphorylation-regulated cleavage by caspase-5 at an unusual glutamic acid residue in position P1. Biochem. J. 2001;358:705
  28. Myohanen SK, Baylin SB, Herman JG. Hypermethylation can selectively silence individual p16INK4A alleles in neoplasia. Cancer Res. 1998;58:591
  29. Grady WM, Myeroff LL, Swinler SE, Rajput A, Thiagalingam S, Lutterbaugh JD, et al.  Mutational inactivation of transforming growth factor-β receptor type II in microsatellite stable colon cancers. Cancer Res. 1999;59:320
  30. Kondo E, Furukawa T, Yoshinaga K, Kijima H, Semba S, Yatsuoka T, et al.  Not hMSH2 but hMLH1 is frequently silenced by hypermethylation in endometrial cancer but rarely silenced in pancreatic cancer with microsatellite instability. Int. J. Oncol. 2000;17:535
  31. Wang Y, Irish J, MacMillan C, Brown D, Xuan Y, Boyington C, et al.  High frequency of microsatellite instability in young patients with head-and-neck squamous cell carcinoma: lack of involvement of the mismatch repair genes hMLH1 and hMSH2. Int. J. Cancer. 2001;93:353
  32. Cunningham JM, Christensen ER, Tester DJ, Kim CY, Roche PC, Burgart LJ, et al.  Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 1998;58:3455
  33. Zhu YM, Das-Gupta EP, Russell NH. Microsatellite instability and p53 mutations are associated with abnormal expression of the MSH2 gene in adult acute leukemia. Blood. 1999;94:733
  34. Das-Gupta EP, Russell NH. Evidence for differing molecular pathways involved in the pathogenesis of acute myeloblastic leukemia with a replication error phenotype (RER) compared to non-RER positive AML. Blood. 1999;94:594a
  35. Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, et al.  Germ-line hMSH6 mutations in colorectal cancer families. Cancer Res. 1999;59:5068
  36. Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, et al.  Association of hereditary non-polyposis colorectal cancer-related tumors displaying low microsatellite instability with hMSH6 germline mutations. Am. J. Hum. Genet. 1999;65:1291
  37. Verma L, Kane MF, Brassett C, Schmeits J, Evans DG, Kolodner RD, et al.  Mononucleotide microsatellite instability and germline hMSH6 mutation analysis in early onset colorectal cancer. J. Med. Genet. 1999;36:678

PII: S0145-2126(02)00078-4

Leukemia Research
Volume 27, Issue 1 , Pages 23-34 , January 2003