Evolution
- acute erythroid leukemia
Cytogenetics
Most patients with chronic myelogenous leukemia (CML) show a Philadelphia (Ph) chromosome with a characteristic translocation between chromosomes 9 and 22.
There are variant complex translocations involving other chromosomes in addition to the standard translocation:
t(4;12;7;9;22) (18474301)
Molecular biology
BCR-ABL fusion protein expression by t(9;22)
chromosomal losses
- 1p36 loss (17696194)
- 2q26.2-q37.3 loss (16425296)
- 5q21 loss (17696194)
- 5q23.1-q23.3 loss (16425296)
- 5q31.2-q32 loss (16425296)
- 7p21.3-p11.2 loss (16425296)
- 7q31.1-q31.33 loss (16425296)
- 8pter-p12(p11.2) loss (16425296)
- 9p21 loss (17696194)
- 9q34 loss (17696194)
- 22q13.1-q13.31 loss (16425296)
chromosomal gains
- 1q gain (17696194)
- 3q26.2-q29 gain (16425296)
- 6p22.3 gain (16425296)
- 7p15.2-p14.3 gain (16425296)
- 8p12, 8p21.3 gain (16425296)
- 8p23.2 gain (16425296)
- 8q24.13-q24.21 gain (17696194, 16425296)
- 9q34 gain (17696194, 16425296)
- 16p gain (17696194)
- 19p13.2-p12 gain (16425296)
- 22q11 gain (17696194)
- 22q13.1-q13.32 gain (16425296)
Reviews
Melo JV, Barnes DJ. Chronic myeloid leukaemia as a model of disease evolution in human cancer. Nat Rev Cancer. 2007 Jun;7(6):441-53. PMID: 17522713
Goldman JM, Melo JV. Chronic myeloid leukemia—advances in biology and new approaches to treatment. N Engl J Med. 2003 Oct 9;349(15):1451-64. PMID: 14534339
References
Brazma D, Grace C, Howard J, Melo JV, Holyoke T, Apperley JF, Nacheva EP. Genomic profile of chronic myelogenous leukemia: Imbalances associated with disease progression. Genes Chromosomes Cancer. 2007 Aug 15; PMID: 17696194
Hosoya N, Sanada M, Nannya Y, Nakazaki K, Wang L, Hangaishi A, Kurokawa M, Chiba S, Ogawa S. Genomewide screening of DNA copy number changes in chronic myelogenous leukemia with the use of high-resolution array-based comparative genomic hybridization. Genes Chromosomes Cancer. 2006 May;45(5):482-94. PMID: 16425296
History
Groffen J, Stephenson JR, Heisterkamp N, de Klein A, Bartram CR, Grosveld G. Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell 1984;36:93-99. PMID: 6319012
Heisterkamp N, Stephenson JR, Groffen J, et al. Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia. Nature 1983;306:239-242. PMID: 6316147
de Klein A, van Kessel AG, Grosveld G, et al. A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 1982;300:765-767. PMID: 6960256
Rowley JD. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973;243:290-293. PMID: 4126434
Nowell PC, Hungerford DA. Chromosome studies on normal and leukemic human leukocytes. J Natl Cancer Inst 1960;25:85-109. PMID: 14427847