Characterization of trisomic natural killer cell abnormalities in a patient with constitutional trisomy 8 mosaicism

Pediatric Hematology and Oncology

Volumn 25, Issue 2, 2008, Pages 135-146

  Marti, Salvador ^a   Galan, Francisco M ^b   Casero, Jesus M ^b   Merino, Jaime ^b   Rubio, Gonzalo ^a  

^a MIGUEL HERNÁNDEZ UNIVERSITY   (Spain)

^b University Hospital of Sant Joan d'Alacant   (Spain)

Author keywords

Chromosome aberration; Cytokines; Cytotoxicity; NK cells; Trisomy 8 mosaicism

Indexed keywords

CD56 ANTIGEN; CD94 ANTIGEN; INTERLEUKIN 2;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CELL POPULATION; CLINICAL FEATURE; CYTOTOXICITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; NATURAL KILLER CELL; PHENOTYPE; PHYSICAL EXAMINATION; TRISOMY 8; TUMOR CELL;

ADULT; ANTIGENS, CD; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC SURVEILLANCE; INTERLEUKIN-2; KILLER CELLS, NATURAL; MOSAICISM; NEOPLASMS; TRISOMY; TUMOR ESCAPE; UP-REGULATION;

EID: 41149158006     PISSN: 08880018     EISSN: 15210669     Source Type: Journal    
DOI: 10.1080/08880010801890135     Document Type: Article

References (28)

1. Karadima G, Bugge M, Nicolaidis P, et al. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet. 1998;6:432-438.
2. Brady AF, Waters CS, Pocha MJ, Brueton LA. Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism. Clin Genet. 2000;58:142-146.
3. Maserati E, April F, Viante F, et al. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer. 2002;33:93-97.
4. Seghezzi L, Maserati E, Minelli A, et al. Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chromosomes Cancer. 1996;17:94-101.
5. Paulsson K, Heidenblad M, Strombeck B, et al. High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration. Leukemia. 2006;20:840-846.
6. Smyth MJ, Dunn GP, Schreiber RD. Cancer immunosurveillance and immunoediting: the roles of immunity in suppressing tumor development and shaping tumor immunogenicity. Adv Immunol. 2006;90:1-50.
7. Cooper MA, Fehniger TA, Caligiuri MA. The biology of human natural killer-cell subsets. Trends Immunol. 2001;22:633-639.
8. Orange JS. Human natural killer cell deficiencies and susceptibility to infection. Microbes Infect. 2002;4:1545-1558.
9. Rubio G, Ferez X, Mora A, Galvez J, Chicano A, Garcia-Penarrubia P. Beta1 integrin triggering affects leukemic cell line sensitivity to natural killer cells. Cancer Immunol Immunother. 2002;51:130-138.
10. Mark HFL. Constitutional mosaic trisomies, mutations, and deletions in cancer: a hypothesis. Cancer Genet Cytogenet. 2000;121:103-105.
11. Kurtyka ZE, Krzykwa B, Piatkowska E, Radwan M, Pietrzyk JJ. Trisomy 8 mosaicism syndrome: two cases demonstrating variability in phenotype. Clin Pediatr (Phila). 1988;27:557-564.
12. Ounap K, Bartsch O, Uibo O, Laidre P. Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 -> qter, and trisomy 8q24.3 -> qter. Am J Med Genet. 2002;108:322-326.
13. Engel BC, Podsakoff GM, Ireland JL, et al. Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Blood. 2007;109:503-506.
14. Biron CA, Byron KS, Sullivan JL. Severe herpesvirus infections in an adolescent without natural killer cells. N Engl J Med. 1989;320:1731-1735.
15. Kiladjian JJ, Bourgeois E, Lobe I, et al. Cytolytic function and survival of natural killer cells are severely altered in myelodysplastic syndromes. Leukemia. 2006;20:463-470.
16. Raza A. Hypothesis: myelodysplastic syndromes may have a viral etiology. Int J Hematol. 1998;68:245-256.
17. Narendran A, Hawkins LM, Ganjavi H, et al. Characterization of bone marrow stromal abnormalities in a patient with constitutional trisomy 8 mosaicism and myelodysplastic syndrome. Pediatr Hematol Oncol. 2004;21:209-221.
18. Krishnaraj R. Senescence and cytokines modulate the NK cell expression. Mech Ageing Dev. 1997;96:89-101.
19. Plackett TP, Boehmer ED, Faunce DE, Kovacs EJ. Aging and innate immune cells. J Leukoc Biol. 2004;76:291-299.
20. Hakim FT, Flomerfelt FA, Boyiadzis M, Gress RE. Aging, immunity and cancer. Curr Opin Immunol. 2004;16:151-156.
21. Lutz CT, Moore MB, Bradley S, Shelton BJ, Lutgendorf SK. Reciprocal age related change in natural killer cell receptors for MHC class I. Mech. Ageing Dev. 2005;126:722-731.
22. Borrego F, Alonso MC, Galiani MD, Carracedo J, Ramirez R, Ostos B, Pena J, Solana R. NK phenotypic markers and IL2 response in NK cells from elderly people. Exp Gerontol. 1999;34:253-265.
23. Matamoros N, Mila J, Llano M, Balas A, Vicario JL, Pons J, Crespi C, Martinez N, Iglesias-Alzueta J, Lopez-Botet M. Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency. Clin Exp Immunol. 2001;125:274-282.
24. Farag SS, Caligiuri MA. Human natural killer cell development and biology. Blood Rev. 2006;20:123-37.
25. Peritt D, Robertson S, Gri G, Showe L, Aste-Amezaga M, Trinchieri G. Differentiation of human NK cells into NK1 and NK2 subsets. J Immunol. 1998;161:5821-5824.
26. Schindowski K, Leutner S, Muller WE, Eckert A. Age-related changes of apoptotic cell death in human lymphocytes. Neurobiol Aging. 2000;21:661-670.
27. Brando C, Mukhopadhyay S, Kovacs E, et al. Receptors and lytic mediators regulating anti-tumor activity by the leukemic killer T cell line TALL-104. J Leukoc Biol. 2005;78:359-371.
28. Guarini A, Breccia M, Montefusco E, et al. Phenotypic and functional characterization of the host immune compartment of chronic myeloid leukaemia patients in complete haematological remission. Br J Haematol. 2001;113:136-142.