Constitutional mismatch repair deficiency and childhood leukemia/lymphoma - report on a novel biallelic MSH6 mutation

Haematologica

Volumn 95, Issue 5, 2010, Pages 841-844

  Ripperger, Tim ^a   Beger, Carmela ^a   Rahner, Nils ^b   Sykora, Karl W ^a   Bockmeyer, Clemens L ^a   Lehmann, Ulrich ^a   Kreipe, Hans H ^a   Schlegelberger, Brigitte ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

Childhood T cell lymphoma; Constitutional mismatch repair deficiency; Hereditary cancer; Leukemia; MSH6

Indexed keywords

FLUOROURACIL; FOLINIC ACID; MISMATCH REPAIR PROTEIN; OXALIPLATIN; PROTEIN MSH6;

ADJUVANT THERAPY; ANAMNESIS; ARTICLE; CANCER GRADING; CANCER RELAPSE; CASE REPORT; CHILD; CHILDHOOD CANCER; COLON ADENOCARCINOMA; COLON RESECTION; CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY; CONTROLLED STUDY; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ILEOSTOMY; LYMPH NODE METASTASIS; METASTASIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; T CELL LYMPHOMA;

ADENOCARCINOMA; ADOLESCENT; ALLELES; BASE PAIR MISMATCH; COLONIC NEOPLASMS; DNA-BINDING PROTEINS; FEMALE; HUMANS; LYMPHOMA, T-CELL; MUTATION; PEDIGREE;

EID: 77952305131     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.015503     Document Type: Article

References (21)

1. Jiricny J. The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol. 2006;7(5): 335-46.
2. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003; 348(10):919-32.
3. Lynch HT, Lynch JF, Lynch PM, Attard T. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer. 2008;7(1):27-39.
4. 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;4(2):130-4.
5. Wimmer K, Etzler J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet. 2008;124(2):105-22.
6. Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, et al. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. J Med Genet. 2009;46(6):418-20.
7. 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.
8. Felton KE, Gilchrist DM, Andrew SE. Constitutive deficiency in DNA mismatch repair: is it time for Lynch III? Clin Genet.
9. Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Ruschoff J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997;57(21):4749-56.
10. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 2003;21(6):1174-9.
11. Edelmann L, Edelmann W. Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancer. Am J Med Genet C Semin Med Genet 2004;129C(1):91-9.
12. Etzler J, Peyrl A, Zatkova A, Schildhaus HU, Ficek A, Merkelbach-Bruse S, et al. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum Mutat. 2008;29(2):299-305.
13. O'Marcaigh AS, Shannon KM. Role of the NF1 gene in leukemogenesis and myeloid growth control. J Pediatr Hematol Oncol 1997;19(6):551-4.
14. Locatelli F, Nollke P, Zecca M, Korthof E, Lanino E, Peters C, et al. Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG- MDS/EBMT trial. Blood 2005;105(1):410-9.
15. Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, et al. Genomewide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with mutant RAS or PTPN11. Oncogene. 2007;26(39):5816-21.
16. Steinemann D, Arning L, Praulich I, Stuhrmann M, Hasle H, Star J et al. Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia (JMML) andneurofibromatosistype1. Haematologica. 2010;95(2):320-3.
17. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81-8.
18. Levati L, Marra G, Lettieri T, D'Atri S, Vernole P, Tentori L, et al. Mutation of the mismatch repair gene hMSH2 and hMSH6 in a human T-cell leukemia line tolerant to methylating agents. Genes Chromosomes Cancer. 1998;23(2):159-66.
19. Umar A, Boland CR, Terdiman JP, Syngal S, de la CA, Ruschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96(4):261-8.
20. Owen C, Barnett M, Fitzgibbon J. Familial myelodysplasia and acute myeloid leukaemia--a review. Br J Haematol. 2008;140(2):123-32.
21. Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44(6):353-62.