Incidence of 17p deletions and TP53 mutation in myelodysplastic syndrome and acute myeloid leukemia with 5q deletion

Genes Chromosomes and Cancer

Volumn 51, Issue 12, 2012, Pages 1086-1092

  Sebaa, Amel ^a,b   Ades, Lionel ^a   Baran Marzack, Fanny ^a   Mozziconacci, Marie Joelle ^c   Penther, Dominique ^d   Dobbelstein, Sophie ^e   Stamatoullas, Aspasia ^f   Récher, Christian ^f   Prebet, Thomas ^f   Moulessehoul, Soraya ^b   Fenaux, Pierre ^a,f   Eclache, Virginie ^a  

^a UNIVERSITÉ PARIS 13   (France)

^b UNIVERSITY OF SIDI BEL ABBES   (Algeria)

^c INSTITUT PAOLI CALMETTES   (France)

^d CENTRE HENRI BECQUEREL   (France)

^e CHU PURPAN   (France)

^f Groupe Francophone des Myélodyspasies   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LENALIDOMIDE; PROTEIN P53;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; CANCER CHEMOTHERAPY; CHROMOSOME 17P; CHROMOSOME 5Q; CHROMOSOME DELETION; CHROMOSOME DELETION 5; CLINICAL ARTICLE; CYTOGENETICS; DISEASE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HIGH RISK PATIENT; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MYELODYSPLASTIC SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; SURVIVAL RATE; TREATMENT RESPONSE; TUMOR SUPPRESSOR GENE;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84867230100     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.21993     Document Type: Article

References (27)

1. Ades L, Boehrer S, Prebet T, Beyne-Rauzy O, Legros L, Ravoet C, Dreyfus F, Stamatoullas A, Chaury MP, Delaunay J, Laurent G, Vey N, Burcheri S, Mbida RM, Hoarau N, Gardin C, Fenaux P. 2009. Efficacy and safety of lenalidomide in intermediate-2 or high-risk myelodysplastic syndromes with 5q deletion: Results of a phase 2 study. Blood 113: 3947-3952.
2. Ades L, Prebet T, Stamatoullas A, Recher, Christian Guieze R, Raffoux E, Bouabdallah K, Hunault M, Wattel E, Stalnikiewicz L, Toma A, Dombret H, Vey N, Boehrer S, Gardin C and Fenaux P. 2010. Lenalidomide (LEN) combined to intensive chemotherapy (IC) in AML and higher risk MDS with del 5q. Results of a phase I/II study of the Groupe Francophone Des Myelodysplasies (GFM). Blood 2010, 116:225; Abstract 508.
3. Andersen MK, Christiansen DH, Pedersen-Bjergaard J. 2005. Centromeric breakage and highly rearranged chromosome derivatives associated with mutations of TP53 are common in therapy-related MDS and AML after therapy with alkylating agents: An M-FISH study. Genes Chromosomes Cancer 42: 358-371.
4. Christiansen DH, Andersen MK, Pedersen-Bjergaard J. 2001. Mutations with loss of heterozygosity of p53 are common in therapy-related myelodysplasia and acute myeloid leukemia after exposure to alkylating agents and significantly associated with deletion or loss of 5q, a complex karyotype, and a poor prognosis. J Clin Oncol 19: 1405-1413.
5. El-Taweel M, Barin C, Cymbalista F, Eclache V. 2009. Detection of chromosomal abnormalities associated with chronic lymphocytic leukemia: what is the best method? Cancer Genet Cytogenet 195: 37-42.
6. Fenaux P, Jonveaux P, Quiquandon I, Laï JL, Pignon JM, Loucheux-Lefebvre MH, Bauters F, Berger R, Kerckaert JP. 1991. P53 gene mutations in acute myeloid leukemia with 17p monosomy. Blood 78: 1652-1657.
7. Fenaux P, Giagounidis A, Selleslag D, Beyne-Rauzy O, Mufti G, Mittelman M, Muus P, Te Boekhorst P, Sanz G, Del Cañizo C, Guerci-Bresler A, Nilsson L, Platzbecker U, Lübbert M, Quesnel B, Cazzola M, Ganser A, Bowen D, Schlegelberger B, Aul C, Knight R, Francis J, Fu T, Hellström-Lindberg E. 2011. A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with del5q. Blood 118: 3765-3776.
8. Fidler C, Watkins F, Bowen DT, Littlewood TJ, Wainscoat JS, Boultwood J. 2004. NRAS, FLT3, TP53 mutations in patients with myelodyplastic syndrome and a del(5q). Haematologica 89: 865-866.
9. Germing U, Lauseker M, Hildebrandt B, Symeonidis A, Cermak J, Fenaux P, Kelaidi C, Pfeilstöcker M, Nösslinger T, Sekeres M, Maciejewski J, Haase D, Schanz J, Seymour J, Kenealy M, Weide R, Lübbert M, Platzbecker U, Valent P, Götze K, Stauder R, Blum S, Kreuzer KA, Schlenk R, Ganser A, Hofmann WK, Aul C, Krieger O, Kündgen A, Haas R, Hasford J, Giagounidis A. 2012. Survival, prognostic factors and rates of leukemic transformation in 381 untreated patients with MDS and del(5q): A multicenter study. Leukemia 26: 1286-1292.
10. Giagounidis AA, Germing U, Haase S, Hildebrandt B, Schlegelberger B, Schoch C. 2004. Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia 18: 113-119.
11. Haferlach C, Dicker F, Herholz H, Schnittger S, Kern W, Haferlach T. 2008. Mutations of the TP53 gene in acute myeloid leukemia are strongly associated with a complex aberrant karyotype. Leukemia 22: 1539-1541.
12. International Agency for Research on Cancer TP53 sequencing methods. Available at: http://www-p53.iarc.fr/p53sequencing. html.
13. Jädersten M, Saft L, Smith A, Kulasekararaj A, Pomplun S, Göhring G, Hedlund A, Hast R, Schlegelberger B, Porwit A, Hellström-Lindberg E. Mufti GJ. 2011. TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol 29: 1971-1979.
14. Jasek M, Gondek LP, Bejanyan NL, Tiu R, Theil KS, O'Keefe C, McDevitt MA, Maciejewski JP. 2010. TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygotsity or deletion of 17p. Leukemia 24: 216-219.
15. Jonveaux P, Fenaux P, Quiquandon I, Pignon JM, Laï JL, Loucheux-Lefebvre MH, Goossens M, Bauters F, Berger R. 1991. Mutations in the p53 gene in myelodysplastic syndromes. Oncogene 6: 2243-2247.
16. Lai JL, Preudhomme C, Zandecki M, Flactif M, Vanrumbeke M, Wattel E, Fenaux P. 1995. Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of P53 mutations. Leukemia 9: 370-381.
17. Li J, Milbury CA, Li C, Makrigiorgos GM. 2009. Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based Sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma. Hum Mutat 30: 1583-1590.
18. List A, Dewald G, Bennett J, Giagounidis A, Raza A, Feldman E, Powell B, Greenberg P, Thomas D, Stone R, Reeder C, Wride K, Patin J, Schmidt M, Zeldis J, Knight R; Myelodysplastic Syndrome-003 Study Investigators. 2006. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. New Engl J Med 355: 1456-1465.
19. Mallo M, Cervera J, Schanz J, Such E, García-Manero G, Luño E, Steidl C, Espinet B, Vallespí T, Germing U, Blum S, Ohyashiki K, Grau J, Pfeilstöcker M, Hernández JM, Noesslinger T, Giagounidis A, Aul C, Calasanz MJ, Martín ML, Valent P, Collado R, Haferlach C, Fonatsch C, Lübbert M, Stauder R, Hildebrandt B, Krieger O, Pedro C, Arenillas L, Sanz MÁ, Valencia A, Florensa L, Sanz GF, Haase D, Solé F. 2011. Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q. Leukemia 25: 110-120.
20. Rausch T, Jones DT, Zapatka M, Stütz AM, Zichner T, Weischenfeldt J, Jäger N, Remke M, Shih D, Northcott PA, Pfaff E, Tica J, Wang Q, Massimi L, Witt H, Bender S, Pleier S, Cin H, Hawkins C, Beck C, von Deimling A, Hans V, Brors B, Eils R, Scheurlen W, Blake J, Benes V, Kulozik AE, Witt O, Martin D, Zhang C, Porat R, Merino DM, Wasserman J, Jabado N, Fontebasso A, Bullinger L, Rücker FG, Döhner K, Döhner H, Koster J, Molenaar JJ, Versteeg R, Kool M, Tabori U, Malkin D, Korshunov A, Taylor MD, Lichter P, Pfister SM, Korbel JO. 2012. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell 148: 59-71.
21. Schanz J, Tüchler H, Solé F, Mallo M, Luño E, Cervera J, Granada I, Hildebrandt B, Slovak ML, Ohyashiki K, Steidl C, Fonatsch C, Pfeilstöcker M, Nösslinger T, Valent P, Giagounidis A, Aul C, Lübbert M, Stauder R, Krieger O, Garcia-Manero G, Faderl S, Pierce S, Le Beau MM, Bennett JM, Greenberg P, Germing U, Haase D. 2012. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. J Clin Oncol 30: 820-829.
22. Schoch C, Haferlach T, Bursch S, Gerstner D, Schnittger S, Dugas M, Kern W, Helmut Löffler, Hiddemann W. 2002. Loss of genetic material is more common than gain in acute myeloid leukemia with complex aberrant karyotype: A detailed analysis of 125 cases using conventional chromosome analysis and fluorescence in situ hybridization including 24-Color FISH. Genes Chromosomes Cancer 35: 20-29.
23. Shaffer LG, Slovak ML Campbell LJ, 2009: ISCN An international system for human cytogenetic nomenclature (2009). S. Karger Basel
24. Soenen V, Preudhomme C, Roumier C, Daudignon A, Laï JL, Fenaux P. 1998. 17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. Blood 91: 1008-1015.
25. Van den Berghe H, Vermaelen K, Mecucci C, Barbieri D, Tricot G. 1985. The 5q anomaly. Cancer Genet Cytogenet 17: 189-255.
26. Yang W, Stotler B, Sevilla DW, Emmons FN, Murty V, Alobeid B, Bhagat G. 2010. FISH analysis in addition to G-band karyotyping: Utility in evaluation of myelodysplastic syndromes? Leukemia Res 34: 420-425.
27. Zenz T, Kröber A, Scherer K, Häbe S, Bühler A, Benner A, Denzel T, Winkler D, Edelmann J, Schwänen C, Döhner H, Stilgenbauer S. 2008. Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocyticleukemia: Results from a detailed genetic characterization with long-term follow-up. Blood 112: 3322-3329.