Myelodysplastic syndromes with del(5q): indications and strategies for cytogenetic testing

Cancer Genetics and Cytogenetics

Volumn 187, Issue 2, 2008, Pages 101-111

  Haferlach, Claudia ^a   Bacher, Ulrike ^b   Tiu, Ramon ^c   Maciejewski, Jaroslaw P ^c   List, Alan ^d  

^a MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c TAUSSIG CANCER INSTITUTE   (United States)

^d H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LENALIDOMIDE;

ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME DELETION 5; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC APPROACH ROUTE; DRUG TARGETING; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPING; METAPHASE CHROMOSOME; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL; SPECTRAL KARYOTYPING; TREATMENT OUTCOME;

ALGORITHMS; ANTINEOPLASTIC AGENTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CYTOGENETIC ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MYELODYSPLASTIC SYNDROMES; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; SPECTRAL KARYOTYPING; THALIDOMIDE;

EID: 56249143149     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2008.08.002     Document Type: Article

References (60)

1. Look A.T. Molecular Pathogenesis of MDS. Hematology Am Soc Hematol Educ Program (2005) 156-160
2. Giagounidis A.A., Germing U., and Aul C. Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. Clin Cancer Res 12 (2006) 5-10
3. Haase D., Germing U., Schanz J., Pfeilstöcker M., Nösslinger T., Hildebrandt B., Kundgen A., Lübbert M., Kunzmann R., Giagounidis A.A., Aul C., Trümper L., Krieger O., Stauder R., Müller T.H., Wimazal F., Valent P., Fonatsch C., and Steidl C. New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. Blood 110 (2007) 4385-4395
4. Layton D.M., and Mufti G.J. Myelodysplastic syndromes: their history, evolution and relation to acute myeloid leukaemia. Blut 53 (1986) 423-436
5. Nilsson L., Astrand-Grundström I., Arvidsson I., Jacobsson B., Hellström-Lindberg E., Hast R., and Jacobsen S.E. Isolation and characterization of hematopoietic progenitor/stem cells in 5q-deleted myelodysplastic syndromes: evidence for involvement at the hematopoietic stem cell level. Blood 96 (2000) 2012-2021
6. Tiu R., Gondek L., O'Keefe C., and Maciejewski J.P. Clonality of the stem cell compartment during evolution of myelodysplastic syndromes and other bone marrow failure syndromes. Leukemia 21 (2007) 1648-1657
7. Galili N., Cerny J., and Raza A. Current treatment options: impact of cytogenetics on the course of myelodysplasia. Curr Treat Options Oncol 8 (2007) 117-128
8. Le Beau M.M., Espinosa III R., Neuman W.L., Stock W., Roulston D., Larson R.A., Keinanen M., and Westbrook C.A. Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. Proc Natl Acad Sci USA 90 (1993) 5484-5488
9. Zhao N., Stoffel A., Wang P.W., Eisenbart J.D., Espinosa III R., Larson R.A., and Le Beau M.M. Molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases to 1-1.5 Mb and preparation of a PAC-based physical map. Proc Natl Acad Sci USA 94 (1997) 6948-6953
10. Horrigan S.K., Arbieva Z.H., Xie H.Y., Kravarusic J., Fulton N.C., Naik H., Le T.T., and Westbrook C.A. Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31. Blood 95 (2000) 2372-2377
11. Jaju R.J., Boultwood J., Oliver F.J., Kostrzewa M., Fidler C., Parker N., McPherson J.D., Morris S.W., Müller U., Wainscoat J.S., and Kearney L. Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. Genes Chromosomes Cancer 22 (1998) 251-256
12. Harris N.L., Jaffe E.S., Diebold J., Flandrin G., Muller-Hermelink H.K., Vardiman J., Lister T.A., and Bloomfield C.D. World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. J Clin Oncol 17 (1999) 3835-3849
13. Boultwood J., Fidler C., Strickson A.J., Watkins F., Gama S., Kearney L., Tosi S., Kasprzyk A., Cheng J.F., Jaju R.J., and Wainscoat J.S. Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. Blood 99 (2002) 4638-4641
14. Joslin J.M., Fernald A.A., Tennant T.R., Davis E.M., Kogan S.C., Anastasi J., Crispino J.D., and Le Beau M.M. Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders. Blood 110 (2007) 719-726
15. Ebert B.L., Pretz J., Bosco J., Chang C.Y., Tamayo P., Galili N., Raza A., Root D.E., Attar E., Ellis S.R., and Golub T.R. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 451 (2008) 335-339
16. Liu T.X., Becker M.W., Jelinek J., Wu W.S., Deng M., Mikhalkevich N., Hsu K., Bloomfield C.D., Stone R.M., DeAngelo D.J., Galinsky I.A., Issa J.P., Clarke M.F., and Look A.T. Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation. Nat Med 13 (2007) 78-83
17. Greenberg P., Cox C., LeBeau M.M., Fenaux P., Morel P., Sanz G., Sanz M., Vallespi T., Hamblin T., Oscier D., Ohyashiki K., Toyama K., Aul C., Mufti G., and Bennett J. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 89 (1997) 2079-2088
18. Giagounidis A.A., Germing U., Haase S., Hildebrandt B., Schlegelberger B., Schoch C., Wilkens L., Heinsch M., Willems H., Aivado M., and Aul C. Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia 18 (2004) 113-119
19. Cherian S., and Bagg A. The genetics of the myelodysplastic syndromes: classical cytogenetics and recent molecular insights. Hematology 11 (2006) 1-13
20. Malcovati L., Germing U., Kuendgen A., Della Porta M.G., Pascutto C., Invernizzi R., Giagounidis A., Hildebrandt B., Bernasconi P., Knipp S., Strupp C., Lazzarino M., Aul C., and Cazzola M. Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. J Clin Oncol 25 (2007) 3503-3510
21. List A., Kurtin S., Roe D.J., Buresh A., Mahadevan D., Fuchs D., Rimsza L., Heaton R., Knight R., and Zeldis J.B. Efficacy of lenalidomide in myelodysplastic syndromes. N Engl J Med 352 (2005) 549-557
22. 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., and Knight R. Myelodysplastic Syndrome-003 Study Investigators. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med 355 (2006) 1456-1465
23. Giagounidis A.A., Germing U., Strupp C., Hildebrandt B., Heinsch M., and Aul C. Prognosis of patients with del(5q) MDS and complex karyotype and the possible role of lenalidomide in this patient subgroup. Ann Hematol 84 (2005) 569-571
24. Giagounidis A.A., Haase S., Heinsch M., Göhring G., Schlegelberger B., and Aul C. Lenalidomide in the context of complex karyotype or interrupted treatment: case reviews of del(5q) MDS patients with unexpected responses. Ann Hematol 86 (2007) 133-137
25. Pellagatti A., Jädersten M., Forsblom A.M., Cattan H., Christensson B., Emanuelsson E.K., Merup M., Nilsson L., Samuelsson J., Sander B., Wainscoat J.S., Boultwood J., and Hellström-Lindberg E. Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q- syndrome patients. Proc Natl Acad Sci USA 104 (2007) 11406-11411
26. Ebert B.L., Galili N., Tamayo P., Bosco J., Mak R., Pretz J., Tanguturi S., Ladd-Acosta C., Stone R., Golub T.R., and Raza A. An erythroid differentiation signature predicts response to lenalidomide in myelodysplastic syndrome. PLoS Med 5 (2008) e35
27. Haferlach C., Rieder H., Lillington D.M., Dastugue N., Hagemeijer A., Harbott J., Stilgenbauer S., Knuutila S., Johansson B., and Fonatsch C. Proposals for standardized protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders, and myelodysplastic syndromes. Genes Chromosomes Cancer 46 (2007) 494-499
28. Bernasconi P., Boni M., Cavigliano P.M., Calatroni S., Giardini I., Rocca B., Zappatore R., Dambruoso I., and Caresana M. Clinical relevance of cytogenetics in myelodysplastic syndromes. Ann NY Acad Sci 1089 (2006) 395-410
29. Valent P., Horny H.P., Bennett J.M., Fonatsch C., Germing U., Greenberg P., Haferlach T., Haase D., Kolb H.J., Krieger O., Loken M., van de Loosdrecht A., Ogata K., Orfao A., Pfeilstöcker M., Rüter B., Sperr W.R., Stauder R., and Wells D.A. Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: consensus statements and report from a working conference. Leuk Res 31 (2007) 727-736
30. ISCN 1995. An International System for Human Cytogenetic Nomenclature. In: Mitelman F. (Ed) (1995), S. Karger AG, Basel
31. Bernasconi P., Klersy C., Boni M., Cavigliano P.M., Calatroni S., Giardini I., Rocca B., Zappatore R., Caresana M., Dambruoso I., Lazzarino M., and Bernasconi C. World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes. Br J Haematol 137 (2007) 193-205
32. Li X., Wu L., Ying S., Chang C., He Q., and Pu Q. Differentiation and hematopoietic-support of clonal cells in myelodysplastic syndromes. Leuk Lymphoma 48 (2007) 1353-1371
33. Mufti G.J. Pathobiology, classification, and diagnosis of myelodysplastic syndrome. Best Pract Res Clin Haematol 17 (2004) 543-557
34. Steensma D.P., and List A.F. Genetic testing in the myelodysplastic syndromes: molecular insights into hematologic diversity. Mayo Clin Proc 80 (2005) 681-698
35. Bernasconi P., Cavigliano P.M., Boni M., Calatroni S., Klersy C., Giardini I., Rocca B., Crosetto N., Caresana M., Lazzarino M., and Bernasconi C. Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients. Leukemia 17 (2003) 2107-2112
36. Rigolin G.M., Bigoni R., Milani R., Cavazzini F., Roberti M.G., Bardi A., Agostini P., Della Porta M., Tieghi A., Piva N., Cuneo A., and Castoldi G. Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype. Leukemia 15 (2001) 1841-1847
37. Cherry AM, Solé F, Johansson B. Clinical value of cytogenetics and FISH in MDS. Presentation at a meeting organized by the MDS Foundation held in Chicago in October 2007.
38. Zou Y.S., Fink S.R., Stockero K.J., Paternoster S.F., Smoley S.A., Tun H.W., Reeder C.B., Tefferi A., and Dewald G.W. Efficacy of conventional cytogenetics and FISH for EGR1 to detect deletion 5q in hematological disorders and to assess response to treatment with Lenalidomide. Leuk Res 31 (2007) 1185-1189
39. Halling K.C., and Kipp B.R. Fluorescence in situ hybridization in diagnostic cytology. Hum Pathol 38 (2007) 1137-1144
40. Bigoni R., Cuneo A., Milani R., Cavazzini F., Bardi A., Roberti M.G., Agostini P., della Porta M., Specchia G., Rigolin G.M., and Castoldi G. Multilineage involvement in the 5q- syndrome: a fluorescent in situ hybridization study on bone marrow smears. Haematologica 86 (2001) 375-381
41. Herry A., Douet-Guilbert N., Morel F., Le Bris M.J., Morice P., Abgrall J.F., Berthou C., and De Braekeleer M. Evaluation of chromosome 5 aberrations in complex karyotypes of patients with myeloid disorders reveals their contribution to dicentric and tricentric chromosomes, resulting in the loss of critical 5q regions. Cancer Genet Cytogenet 175 (2007) 125-131
42. Schröck E., du Manoir S., Veldman T., Schoell B., Wienberg J., Ferguson-Smith M.A., Ning Y., Ledbetter D.H., Bar Am I., Soenksen D., Garini Y., and Ried T. Multicolor spectral karyotyping of human chromosomes. Science 273 (1996) 494-497
43. Veldman T., Vignon C., Schröck E., Rowley J.D., and Ried T. Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Nat Genet 15 (1997) 406-410
44. Speicher M.R., Gwyn Ballard S., and Ward D.C. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12 (1996) 368-375
45. Martínez-Ramírez A., Urioste M., Alvarez S., Vizmanos J.L., Calasanz M.J., Cigudosa J.C., and Benítez J. Cytogenetic profile of myelodysplastic syndromes with complex karyotypes: an analysis using spectral karyotyping. Cancer Genet Cytogenet 153 (2004) 39-47
46. Barouk-Simonet E., Soenen-Cornu V., Roumier C., Cosson A., Laï J.L., Fenaux P., and Preudhomme C. Role of multiplex FISH in identifying chromosome involvement in myelodysplastic syndromes and acute myeloid leukemias with complex karyotypes: a report on 28 cases. Cancer Genet Cytogenet 157 (2005) 118-126
47. Trost D., Hildebrandt B., Beier M., Müller N., Germing U., and Royer-Pokora B. Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia. Cancer Genet Cytogenet 165 (2006) 51-63
48. Kallioniemi O.P., Kallioniemi A., Piper J., Isola J., Waldman F.M., Gray J.W., and Pinkel D. Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 10 (1994) 231-243
49. Kim M.H., Stewart J., Devlin C., Kim Y.T., Boyd E., and Connor M. The application of comparative genomic hybridization as an additional tool in the chromosome analysis of acute myeloid leukemia and myelodysplastic syndromes. Cancer Genet Cytogenet 126 (2001) 26-33
50. O'Keefe C.L., Tiu R., Gondek L.P., Powers J., Theil K.S., Kalaycio M., Lichtin A., Sekeres M.A., and Maciejewski J.P. High-resolution genomic arrays facilitate detection of novel cryptic chromosomal lesions in myelodysplastic syndromes. Exp Hematol 35 (2007) 240-251
51. Oostlander A.E., Meijer G.A., and Ylstra B. Microarray-based comparative genomic hybridization and its applications in human genetics. Clin Genet 66 (2004) 488-495
52. Gondek L.P., Tiu R., O'Keefe C.L., Sekeres M.A., Theil K.S., and Maciejewski J.P. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 111 (2008) 1534-1542
53. Mohamedali A., Gaken J., Twine N.A., Ingram W., Westwood N., Lea N.C., Hayden J., Donaldson N., Aul C., Gattermann N., Giagounidis A., Germing U., List A.F., and Mufti G.J. Prevalence and prognostic significance of allelic imbalance by single nucleotide polymorphism analysis in low risk myelodysplastic syndromes. Blood 110 (2007) 3365-3373
54. Nimer S.D. Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. J Clin Oncol 24 (2006) 2576-2582
55. Lessard M., Hélias C., Struski S., Perrusson N., Uettwiller F., Mozziconacci M.J., Lafage-Pochitaloff M., Dastugue N., Terré C., Brizard F., Cornillet-Lefebvre P., Mugneret F., Barin C., Herry A., Luquet I., Desangles F., Michaux L., Verellen-Dumoulin C., Perrot C., Van den Akker J., Lespinasse J., Eclache V., and Berger R. Groupe Francophone de Cytogénétique Hématologique. Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: do de novo and therapy-related myelodysplastic syndrome-acute myeloid leukemia actually differ?. Cancer Genet Cytogenet 176 (2007) 1-21
56. Babicka L., Ransdorfova S., Brezinova J., Zemanova Z., Sindelarova L., Siskova M., Maaloufova J., Cermak J., and Michalova K. Analysis of complex chromosomal rearrangements in adult patients with MDS and AML by multicolor FISH. Leuk Res 31 (2007) 39-47
57. Shali W., Hélias C., Fohrer C., Struski S., Gervais C., Falkenrodt A., Leymarie V., Lioure B., Raby P., Herbrecht R., and Lessard M. Cytogenetic studies of a series of 43 consecutive secondary myelodysplastic syndromes/acute myeloid leukemias: conventional cytogenetics, FISH, and multiplex FISH. Cancer Genet Cytogenet 168 (2006) 133-145
58. Lindvall C., Nordenskjöld M., Porwit A., Björkholm M., and Blennow E. Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements. Haematologica 86 (2001) 1158-1164
59. Kandioler D., Krieger O., Nowotny H., and Lutz D. Clonal evolution in a transforming 5q- syndrome. Leukemia 8 (1994) 711-712
60. Cheson B.D., Bennett J.M., Kantarjian H., Pinto A., Schiffer C.A., Nimer S.D., Löwenberg B., Beran M., de Witte T.M., Stone R.M., Mittelman M., Sanz G.F., Wijermans P.W., Gore S., and Greenberg P.L. World Health Organization(WHO) international working group. Report of an international working group to standardize response criteria for myelodysplastic syndromes. Blood 96 (2000) 3671-3674