Chromosome banding patterns in patients with chronic myelocytic leukemia

Carbonell, Félix; Benı́tez, Javier; Prieto, Félix; Badia, L; Sánchez-Fayos, J

doi:10.1016/0165-4608(82)90045-0

Cited by 27 publications

(5 citation statements)

References 31 publications

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“…It should thus be stressed that the terms ‘major’ and ‘minor’ refer to frequencies and not to the aberrations’ presumed pathogenetic impact. That the three major route changes, followed by +19, were the most common ones was corroborated by several studies during the late 1970s and early 1980s [5, 51, 52, 53, 57, 77, 78, 79, 80, 81, 82, 83]. Among the approximately 1,600 CML cases with standard Ph and secondary changes published to date [47], +8, +Ph, i(17q), and +19 have been described in 35, 31, 21, and 14% of the cases, respectively (table 1).…”

Section: Cytogenetic Evolution In the Banding Erasupporting

confidence: 49%

“…Considering the fact that additional abnormalities are found in 10–20% during CP but in 60–80% preceding or accompanying BC [5, 51, 57, 69, 80, 81, 82, 162, 191, 192, 193, 194, 195], a strong association between secondary changes and transformation undoubtedly exists. In addition, strong support for the clinical importance of additional changes came from early studies of splenic transformations of CML, showing that the secondary aberrations appeared in the spleen before the bone marrow [196, 197, 198].…”

Section: Prognostic Impact Of Secondary Genetic Changesmentioning

confidence: 99%

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Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia

2002

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Chronic myeloid leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22 called the Philadelphia (Ph) chromosome. In 2–10% of the cases, this chimeric gene is generated by variant rearrangements, involving 9q34, 22q11, and one or several other genomic regions. All chromosomes have been described as participating in these variants, but there is a marked breakpoint clustering to chromosome bands 1p36, 3p21, 5q13, 6p21, 9q22, 11q13, 12p13, 17p13, 17q21, 17q25, 19q13, 21q22, 22q12, and 22q13. Despite their genetically complex nature, available data indicate that variant rearrangements do not confer any specific phenotypic or prognostic impact as compared to CML with a standard Ph chromosome. In most instances, the t(9;22), or a variant thereof, is the sole chromosomal anomaly during the chronic phase (CP) of the disease, whereas additional genetic changes are demonstrable in 60–80% of cases in blast crisis (BC). The secondary chromosomal aberrations are clearly nonrandom, with the most common chromosomal abnormalities being +8 (34% of cases with additional changes), +Ph (30%), i(17q) (20%), +19 (13%), –Y (8% of males), +21 (7%), +17 (5%), and monosomy 7 (5%). We suggest that all these aberrations, occurring in >5% of CML with secondary changes, should be denoted major route abnormalities. Chromosome segments often involved in structural rearrangements include 1q, 3q21, 3q26, 7p, 9p, 11q23, 12p13, 13q11–14, 17p11, 17q10, 21q22, and 22q10. No clear-cut differences as regards type and prevalence of additional aberrations seem to exist between CML with standard t(9;22) and CML with variants, except for slightly lower frequencies of the most common changes in the latter group. The temporal order of the secondary changes varies, but the preferred pathway appears to start with i(17q), followed by +8 and +Ph, and then +19. Molecular genetic abnormalities preceding, or occurring during, BC include overexpression of the BCR/ABL transcript, upregulation of the EVI1 gene, increased telomerase activity, and mutations of the tumor suppressor genes RB1, TP53, and CDKN2A. The cytogenetic evolution patterns vary significantly in relation to treatment given during CP. For example, +8 is more common after busulfan than hydroxyurea therapy, and the secondary changes seen after interferon-alpha treatment or bone marrow transplantation are often unusual, seemingly random, and occasionally transient. Apart from the strong phenotypic impact of addition of acute myeloid leukemia/myelodysplasia-associated translocations and inversions, such as inv(3)(q21q26), t(3;21)(q26;q22), and t(15;17)(q22;q12–21), in CML BC, only a few significant differences between myeloid and lymphoid BC are discerned, with i(17q) and TP53 mutations being more common in myeloid BC and monosomy 7, hypodiploidy, and CDKN2A deletions being more frequent in lymphoid BC. The prognostic significance of the secondary genetic changes is not uniform, althoug...

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Section: Cytogenetic Evolution In the Banding Erasupporting

confidence: 49%

Section: Prognostic Impact Of Secondary Genetic Changesmentioning

confidence: 99%

Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia

2002

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“…The lymphocyte culture (PHA stimulation) provided only normal karyotypes. Loss of Y has been described in Ph'-positive cases ofCM L [7,8,11,12] but its relationship to the development of leukemia is unclear. Sometimes it has been interpreted as only an age-related pheno menon [1,14,23].…”

Section: Discussionmentioning

confidence: 99%

“…Changes in chromo somes 1 have also been observed in var ious solid tumors [16], and it seems likely that loci located at 1 q23-q32 may be of sig nificance in malignant transformation [9,13,22], Abnormalities in chromosome 1 have been described in a number of patients with and without blast crisis of chronic myeloid leukemia (CML) [2,3,7,11,15,21,24,25], and also in some patients with myeloproliferate disorders, osteomyelofi brosis and osteomyelosclerosis (M F/ OMS) [18,19,26]. The development and prognostic significance of partial or com plete trisomy 1 has not yet been evaluated fully.…”

Section: Introductionmentioning

confidence: 99%

Trisomy lq and Loss of Y Chromosome in a Male with Osteomyelosclerosis

Bauchinger¹

1984

Acta Haematol

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The results of a cytogenetic analysis of peripheral blood cells in a 61-year-old male with histopathologically documented osteomyelosclerosis, hepatosplenomegaly, ascites and anemia are described. The karyotype 46, X,-Y+ 1p22→qter, without Ph¹-chromosome, was observed in all unstimulated and in most PHA-stimulated cells. The patient had not received cytostatic or radiation therapy, thus the marker lq+ could not have resulted from such clastogenic treatments.

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“…In 60-80% of the cases, ACA precede or accompany blastic phase [14,15,[23][24][25][26][27][28][29][30][31][32][33], thus there is undoubtedly a strong association between secondary changes and transformation. Furthermore, early studies of splenic CML transformations give rise to strong support for the clinical importance of additional changes, showing that the secondary aberrations appeared in the spleen before bone marrow [34][35][36].…”

Section: Chronic Phasementioning

confidence: 99%

BCR/ABL1 Extra Fusions in Patients with Chronic Myeloid Leukaemia (CML)

Vargas¹

2011

Myeloid Leukemia - Basic Mechanisms of Leukemogenesis

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Chromosome banding patterns in patients with chronic myelocytic leukemia

Cited by 27 publications

References 31 publications

Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia

Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia

Trisomy lq and Loss of Y Chromosome in a Male with Osteomyelosclerosis

BCR/ABL1 Extra Fusions in Patients with Chronic Myeloid Leukaemia (CML)

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