t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia

Cancer Letters

Volumn 277, Issue 2, 2009, Pages 205-211

  Micci, Francesca ^a   Panagopoulos, Ioannis ^b   Haugom, Lisbeth ^a   Andersen, Hege Kilen ^a   Tjønnfjord, Geir E ^a,c   Beiske, Klaus ^a   Heim, Sverre ^a,c  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF OSLO   (Norway)

Author keywords

aCML; ATP5O; Fusion gene; Karyotyping; RYK

Indexed keywords

HYDROXYUREA; MERCAPTOPURINE; METHOTREXATE; PROTEIN TYROSINE KINASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; RECEPTOR LIKE TYROSINE KINASE; THYROXINE; UNCLASSIFIED DRUG; WARFARIN;

AGED; ANAMNESIS; ANEMIA; ARTICLE; CASE REPORT; CHROMOSOME 21; CHROMOSOME TRANSLOCATION; CHRONIC MYELOID LEUKEMIA; CLINICAL FEATURE; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUSION; HUMAN; HYPOTHYROIDISM; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; THROMBOEMBOLISM;

ADENOSINE TRIPHOSPHATASES; AGED; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 21; HUMANS; LEUKEMIA, MYELOID, CHRONIC, ATYPICAL, BCR-ABL NEGATIVE; MALE; MEMBRANE PROTEINS; ONCOGENE FUSION; RECEPTOR PROTEIN-TYROSINE KINASES; TRANSLOCATION, GENETIC;

EID: 62749090950     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.canlet.2008.12.016     Document Type: Article

References (35)

1. Vardiman J.W. Myelodysplastic/myeloproliferative disease. In: Jaffe E.S., Harris N.L., Stein H., and Vardiman W.J. (Eds). World Health Organization Classification of Tumors; Tumours of Heamatopoietic and Lynphoid Tissues - Pathology and Genetics (2001), IARC Press, Lyon France
2. Shepherd P.C., Ganesan T.S., and Galton D.A. Haematological classification of the chronic myeloid leukaemias. Baillieres Clin. Haem. 1 (1987) 887-906
3. F. Mitelman, B. Johansson, F. Mertens. Mitelman database of chromosome aberrations in cancer, , 2008.
4. Oscier D.G. Atypical chronic myeloid leukaemia, a distinct clinical entity related to the myelodysplastic syndrome?. Br. J. Haematol. 92 (1996) 582-586
5. Benedek D., Kiehl M., Draube A., Chemnitz J., Diehl V., and Sohngen D. Atypical chronic myeloid leukaemia with trisomy 21 mosaicism as a sole chromosomal abnormality. Leuk. Lymp. 38 (2000) 639-644
6. Hernandez J.M., del Canizo M.C., Cuneo A., Garcia J.L., Gutierrez N.C., Gonzalez M., Castoldi G., and San Miguel J.F. Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia. Ann. Oncol. 11 (2000) 441-444
7. Preudhomme C., Warot-Loze D., Roumier C., Grardel-Duflos N., Garand R., Lai J.L., Dastugue N., Macintyre E., Denis C., Bauters F., Kerckaert J.P., Cosson A., and Fenaux P. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood 96 (2000) 2862-2869
8. Takeshita A., Naito K., Shinjo K., Sahara N., Matsui H., Ohnishi K., Beppu H., Ohtsubo K., Horii T., Maekawa M., Inaba T., and Ohno R. Deletion 6p23 and add(11)(p15) leading to NUP98 translocation in a case of therapy-related atypical chronic myelocytic leukemia transforming to acute myelocytic leukemia. Cancer Genet. Cytogen. 152 (2004) 56-60
9. Reiter A., Walz C., Watmore A., Schoch C., Blau I., Schlegelberger B., Berger U., Telford N., Aruliah S., Yin J.A., Vanstraelen D., Barker H.F., Taylor P.C., O'Driscoll A., Benedetti F., Rudolph C., Kolb H.J., Hochhaus A., Hehlmann R., Chase A., and Cross N.C. The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res. 65 (2005) 2662-2667
10. Bousquet M., Quelen C., De M., Duchayne V.E., Roquefeuil B., Delsol G., Laurent G., Dastugue N., and Brousset P. The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene. Oncogene 24 (2005) 7248-7252
11. Siena S., Sammarelli G., Grimoldi M.G., Schiavo R., Nozza A., Roncalli M., Mecucci C., Santoro A., and Carlo-Stella C. New reciprocal translocation t(5;10)(q33;q22) associated with atypical chronic myeloid leukemia. Haematologica 84 (1999) 369-372
12. Kulkarni S., Heath C., Parker S., Chase A., Iqbal S., Pocock C.F., Kaeda J., Cwynarski K., Goldman J.M., and Cross N.C. Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21). Cancer Res. 60 (2000) 3592-3598
13. Schwaller J., Anastasiadou E., Cain D., Kutok J., Wojiski S., Williams I.R., LaStarza R., Crescenzi B., Sternberg D.W., Andreasson P., Schiavo R., Siena S., Mecucci C., and Gilliland D.G. H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor beta gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22). Blood 97 (2001) 3910-3918
14. Czepulkowski B., and Gibbon B. Cytogenetics in acute lymphoblastic leukemia. In: Rooney D.E. (Ed). Human Cytogenetics: Malignancy and Acquired Abnormalities (2001), Oxford University Press, Oxford New York 57-85
15. ISCN, An International System for Human Cytogenetic Nomenclature, in: L.G. Shaffer, N. Tommerup (Eds.), Karger S. Basel, 2005.
16. Sambrook J., Fritsch E.F., and Maniatis T. Molecular Cloning: A Laboratory Manual (1989), Cold Spring Harbor Laboratory Press, Cold Spring Harbor
17. Kearny L., and Hammomd D.W. Molecular Cytogenetic Technologies. In: Rooney D.E. (Ed). Human Cytogenetics - Malignancy and Acquired Abnormalities (2001), Oxford University Press, Oxford 129-163
18. Johansson B., and Harrison C. Acute Myeloid Leukemia. In: Heim S., and Mitelman F. (Eds). Cancer Cytogenetics (2008), Wiley-Liss, New York
19. Harrison C., and Johansson B. Acute lymphoblastic leukemia. In: Heim S., and Mitelman F. (Eds). Cancer Cytogenetics (2008), Wiley-Liss, New York
20. Johansson B., Mertens F., and Mitelman F. Primary vs. secondary neoplasia-associated chromosomal abnormalities-balanced rearrangements vs. genomic imbalances?. Genes Chromosomes Cancer 16 (1996) 155-163
21. Tamagnone L., Partanen J., Armstrong E., Lasota J., Ohgami K., Tazunoki T., LaForgia S., Huebner K., and Alitalo K. The human RYK cDNA sequence predicts a protein containing two putative transmembrane segments and a tyrosine kinase catalytic domain. Oncogene 8 (1993) 2009-2014
22. Aravind L., and Koonin E.V. SAP-a putative DNA-binding motif involved in chromosomal organization. Trends Biochem. Sci. 25 (2000) 112-114
23. Fero M.L., Rivkin M., Tasch M., Porter P., Carow C.E., Firpo E., Polyak K., Tsai L.H., Broudy V., Perlmutter R.M., Kaushansky K., and Roberts J.M. A syndrome of multiorgan hyperplasia with features of gigantism, tumorigenesis, and female sterility in p27(Kip1)-deficient mice. Cell 85 (1996) 733-744
24. Venkatachalam S., Shi Y.P., Jones S.N., Vogel H., Bradley A., Pinkel D., and Donehower L.A. Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation. EMBO J. 17 (1998) 4657-4667
25. Song W.J., Sullivan M.G., Legare R.D., Hutchings S., Tan X., Kufrin D., Ratajczak J., Resende I.C., Haworth C., Hock R., Loh M., Felix C., Roy D.C., Busque L., Kurnit D., Willman C., Gewirtz A.M., Speck N.A., Bushweller J.H., Li F.P., Gardiner K., Poncz M., Maris J.M., and Gilliland D.G. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat. Genet. 23 (1999) 166-175
26. French J.E., Lacks G.D., Trempus C., Dunnick J.K., Foley J., Mahler J., Tice R.R., and Tennant R.W. Loss of heterozygosity frequency at the Trp53 locus in p53-deficient (±) mouse tumors is carcinogen-and tissue-dependent. Carcinogenesis 22 (2001) 99-106
27. Rosenbauer F., Wagner K., Kutok J.L., Iwasaki H., Le Beau M.M., Okuno Y., Akashi K., Fiering S., and Tenen D.G. Acute myeloid leukemia induced by graded reduction of a lineage-specific transcription factor PU.1. Nat. Genet. 36 (2004) 624-630
28. Michaud J., Wu F., Osato M., Cottles G.M., Yanagida M., Asou N., Shigesada K., Ito Y., Benson K.F., Raskind W.H., Rossier C., Antonarakis S.E., Israels S., McNicol A., Weiss H., Horwitz M., and Scott H.S. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 99 (2002) 1364-1372
29. Nakao M., Horiike S., Fukushima-Nakase Y., Nishimura M., Fujita Y., Taniwaki M., and Okuda T. Novel loss-of-function mutations of the haematopoiesis-related transcription factor, acute myeloid leukaemia 1/runt-related transcription factor 1, detected in acute myeloblastic leukaemia and myelodysplastic syndrome. Br. J. Haematol. 125 (2004) 709-719
30. Kobayashi S., Sakai H., Tomiazwa T., Koiso H., Kim K., Ueki K., Tamura J., Yano S., Naruse T., and Karasawa M. Successful low-dose cytosine arabinoside treatment in a patient with acute leukemia from idiopathic myelofibrosis. J. Med. 30 (1999) 101-109
31. Charrin C., Belhabri A., Treille-Ritouet D., Theuil G., Magaud J.P., Fiere D., and Thomas X. Structural rearrangements of chromosome 3 in 57 patients with acute myeloid leukemia: clinical, hematological and cytogenetic features. Hematol. J. 3 (2002) 21-31
32. Jeandidier E., Dastugue N., Mugneret F., Lafage-Pochitaloff M., Mozziconacci M.J., Herens C., Michaux L., Verellen-Dumoulin C., Talmant P., Cornillet-Lefebvre P., Luquet I., Charrin C., Barin C., Collonge-Rame M.A., Perot C., Van den A.J., Gregoire M.J., Jonveaux P., Baranger L., Eclache-Saudreau V., Pages M.P., Cabrol C., Terre C., and Berger R. Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Francais de Cytogenetique Hematologique. Cancer Genet. Cytogenet. 166 (2006) 1-11
33. Stark B., Jeison M., Gabay L.G., Mardoukh J., Luria D., Bar-Am I., Avrahami G., Kapeliushnik Y., Sthoeger D., Herzel G., Steinberg D.M., Cohen I.J., Goshen Y., Stein J., Zaizov R., and Yaniv I. Classical and molecular cytogenetic abnormalities and outcome of childhood acute myeloid leukaemia: report from a referral centre in Israel. Br. J. Haematol. 126 (2004) 320-337
34. Nawata R., Shinohara K., Yamada T., Takahashi T., Katsuki K., Takeda K., Kameda N., Ariyoshi K., Ota I., and Muraki K. Morphological and cytogenetic changes in therapy-related leukemia developed in a t(8;21)-acute myeloid leukemia (M2) patient: sequential cytogenetic and molecular analyses. Int. J. Hematol. 71 (2000) 353-358
35. Druker B.J. Imatinib as a paradigm of targeted therapies. Adv. Cancer Res. 91 (2004) 1-30