Types
MSH6-associated leukemias
References
Mao G, Pan X, Gu L. Evidence that a mutation in the MLH1 3’-untranslated region confers a mutator phenotype and mismatch repair deficiency in patients with relapsed leukemia.J Biol Chem. 2008 Feb 8;283(6):3211-6. PMID: 18056700
Worrillow LJ, Smith AG, Scott K, Andersson M, Ashcroft AJ, Dores GM, Glimelius B, Holowaty E, Jackson GH, Jones GL, Lynch CF, Morgan G, Pukkala E, Scott D, Storm HH, Taylor PR, Vyberg M, Willett E, Travis LB, Allan JM. Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma.J Med Genet. 2008 Mar;45(3):142-6. PMID: 17959715
Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. Alotaibi H, Ricciardone MD, Ozturk M. Mutat Res. 2008 Jan 1;637(1-2):209-14. PMID: 17889038
Sellick GS, Lubbe SJ, Matutes E, Catovsky D, Houlston RS. Microsatellite instability indicative of defects in the major mismatch repair genes is rare in patients with B-cell chronic lymphocytic leukemia: Evaluation with disease stage and family history.Leuk Lymphoma. 2007 Jul;48(7):1320-2. PMID: 17613760
Scott RH, Mansour S, Pritchard-Jones K, Kumar D, MacSweeney F, Rahman N. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.Nat Clin Pract Oncol. 2007 Feb;4(2):130-4. PMID: 17259933
Matheson EC, Hogarth LA, Case MC, Irving JA, Hall AG. DHFR and MSH3 co-amplification in childhood acute lymphoblastic leukaemia, in vitro and in vivo.Carcinogenesis. 2007 Jun;28(6):1341-6. PMID: 17148505
Amikam D, Leshanski L, Sagi M. A novel MLH1 mutation harbored as a germ line aberration by a young woman of an HNPCC-like family and exhibited by a CML patient when occurring prior to the initiation of the blast phase concomitant with a c-MYC amplification.Int J Mol Med. 2006 Jun;17(6):1023-6. PMID: 16685411
Ham MF, Takakuwa T, Luo WJ, Liu A, Horii A, Aozasa K. Impairment of double-strand breaks repair and aberrant splicing of ATM and MRE11 in leukemia-lymphoma cell lines with microsatellite instability. Cancer Sci. 2006 Mar;97(3):226-34.PMID: 16542220
De Vos M, Hayward BE, Charlton R, Taylor GR, Glaser AW, Picton S, Cole TR, Maher ER, McKeown CM, Mann JR, Yates JR, Baralle D, Rankin J, Bonthron DT, Sheridan E. PMS2 mutations in childhood cancer. J Natl Cancer Inst. 2006 Mar 1;98(5):358-61.PMID: 16507833
Bandipalliam P. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer. 2005;4(4):323-33. PMID: 16341812
Worrillow LJ, Allan JM. Deregulation of homologous recombination DNA repair in alkylating agent-treated stem cell clones: a possible role in the aetiology of chemotherapy-induced leukaemia. Oncogene. 2006 Mar 16;25(12):1709-20. PMID: 16278672
Offman J, Gascoigne K, Bristow F, Macpherson P, Bignami M, Casorelli I, Leone G, Pagano L, Sica S, Halil O, Cummins D, Banner NR, Karran P. Repeated sequences in CASPASE-5 and FANCD2 but not NF1 are targets for mutation in microsatellite-unstable acute leukemia/myelodysplastic syndrome. Mol Cancer Res. 2005 May;3(5):251-60. PMID: 15886296
Velangi MR, Matheson EC, Morgan GJ, Jackson GH, Taylor PR, Hall AG, Irving JA. DNA mismatch repair pathway defects in the pathogenesis and evolution of myeloma. Carcinogenesis. 2004 Oct;25(10):1795-803. PMID: 15142887
Offman J, Opelz G, Doehler B, Cummins D, Halil O, Banner NR, Burke MM, Sullivan D, Macpherson P, Karran P. Defective DNA mismatch repair in acute myeloid leukemia/myelodysplastic syndrome after organ transplantation.Blood. 2004 Aug 1;104(3):822-8. Epub 2004 Apr 15. PMID: 15090454
Mathonnet G, Krajinovic M, Labuda D, Sinnett D. Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.Br J Haematol. 2003 Oct;123(1):45-8. PMID: 14510941
Worrillow LJ, Travis LB, Smith AG, Rollinson S, Smith AJ, Wild CP, Holowaty EJ, Kohler BA, Wiklund T, Pukkala E, Roman E, Morgan GJ, Allan JM. An intron splice acceptor polymorphism in hMSH2 and risk of leukemia after treatment with chemotherapeutic alkylating agents. Clin Cancer Res. 2003 Aug 1;9(8):3012-20.PMID: 12912950
Gutmann DH, Winkeler E, Kabbarah O, Hedrick N, Dudley S, Goodfellow PJ, Liskay RM. Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice.Oncogene. 2003 Jul 17;22(29):4581-5. PMID: 12881715
Casorelli I, Offman J, Mele L, Pagano L, Sica S, D’Errico M, Giannini G, Leone G, Bignami M, Karran P.Drug treatment in the development of mismatch repair defective acute leukemia and myelodysplastic syndrome.DNA Repair (Amst). 2003 May 13;2(5):547-59.PMID: 12713812#
Paz-y-Miño C, Fiallo BF, Morillo SA, Acosta A, Giménez P, Ocampo L, Leone PE. Analysis of the polymorphism [gIVS12-6T > C] in the hMSH2 gene in lymphoma and leukemia.Leuk Lymphoma. 2003 Mar;44(3):505-8. PMID: 12688322
Fülöp Z, Csernus B, Tímár B, Szepesi A, Matolcsy A. Microsatellite instability and hMLH1 promoter hypermethylation in Richter’s transformation of chronic lymphocytic leukemia. Leukemia. 2003 Feb;17(2):411-5.PMID: 12592341
Matheson EC, Hall AG.Assessment of mismatch repair function in leukaemic cell lines and blasts from children with acute lymphoblastic leukaemia. Carcinogenesis. 2003 Jan;24(1):31-8.PMID: 12538346
Seedhouse CH, Das-Gupta EP, Russell NH. Methylation of the hMLH1 promoter and its association with microsatellite instability in acute myeloid leukemia. Leukemia. 2003 Jan;17(1):83-8.PMID: 12529664
Scott S, Kimura T, Ichinohasama R, Bergen S, Magliocco A, Reimer C, Kerviche A, Sheridan D, DeCoteau JF. Microsatellite mutations of transforming growth factor-beta 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.L euk Res. 2003 Jan;27(1):23-34. PMID: 12479849
Gu L, Cline-Brown B, Zhang F, Qiu L, Li GM. Mismatch repair deficiency in hematological malignancies with microsatellite instability.Oncogene. 2002 Aug 22;21(37):5758-64.PMID: 12173046
Kotoula V, Hytiroglou P, Kaloutsi V, Barbanis S, Kouidou S, Papadimitriou CS.Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin.Leuk Lymphoma. 2002 Feb;43(2):393-9.PMID: 11999575
Olipitz W, Hopfinger G, Aguiar RC, Gunsilius E, Girschikofsky M, Bodner C, Hiden K, Linkesch W, Hoefler G, Sill H. Defective DNA-mismatch repair: a potential mediator of leukemogenic susceptibility in therapy-related myelodysplasia and leukemia. Genes Chromosomes Cancer. 2002 Jun;34(2):243-8. PMID: 11979558
Sheikhha MH, Tobal K, Liu Yin JA.High level of microsatellite instability but not hypermethylation of mismatch repair genes in therapy-related and secondary acute myeloid leukaemia and myelodysplastic syndrome. Br J Haematol. 2002 May;117(2):359-65. PMID: 11972518
Das-Gupta EP, Seedhouse CH, Russell NH. Microsatellite instability occurs in defined subsets of patients with acute myeloblastic leukaemia. Br J Haematol. 2001 Aug;114(2):307-12. PMID: 11529848