Molecular Definition of Interstitial Deletions of Chromosome 13 in Leukemic Cells

Morris, Christine M.; Cochrane, Jill; Benjes, Suzanne M.; Crossen, Peter E.; Fitzgerald, P. H.

doi:10.1002/gcc.2870030607

Cited by 30 publications

(18 citation statements)

References 35 publications

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“…Interestingly, 13q14 deletions may be more common than suggested by routine cytogenetic analysis, detectable in up to 30% of patients by molecular techniques (Dewald & Wright, 1995). In most cases the deletion has been interpreted as interstitial (Morris et al, 1991) with the few terminal deletions generally being assigned proximal to 13q14. Since the retinoblastoma susceptibility gene (RB-1) is located at this locus it has been postulated that its inactivation may be pathogenetically important.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases

Reilly

Snowden²,

Spearing³

et al. 1997

Br J Haematol

190

179

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Summary. The prognostic significance of cytogenetic abnormalities was determined in 106 patients with wellcharacterized idiopathic myelofibrosis who were successfully karyotyped at diagnosis. 35% of the cases exhibited a clonal abnormality (37/106), whereas 65% (69/106) had a normal karyotype. Three characteristic defects, namely del(13q) (nine cases), del(20q) (eight cases) and partial trisomy 1q (seven cases), were present in 64 . 8% (24/37) of patients with clonal abnormalities. Kaplan-Meier plots and log rank analysis demonstrated an abnormal karyotype to be an adverse prognostic variable (P < 0 . 001). Of the eight additional clinical and haematological parameters recorded at diagnosis, age (P < 0 . 01), anaemia (haemoglobin р10 g/ dl; P < 0 . 001), platelet (р100 × 10 9 /l, P < 0 . 0001) and leucocyte count (>10 . 3 × 10 9 /l; P ¼ 0 . 06) were also associated with a shorter survival. In contrast, sex, spleen and liver size, and percentage blast cells were not found to be significant. Multivariate analysis, using Cox's regression, revealed karyotype, haemoglobin concentration, platelet and leucocyte counts to retain their unfavourable prognostic significance. A simple and useful schema for predicting survival in idiopathic myelofibrosis has been produced by combining age, haemoglobin concentration and karyotype with median survival times varying from 180 months (good-risk group) to 16 months (poor-risk group).

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Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases

Reilly

Snowden²,

Spearing³

et al. 1997

Br J Haematol

190

179

View full text Add to dashboard Cite

show abstract

“…RB1 at 13q14 is known to be involved in a variety of B-cell malignancies (Morris et al, 1991;Liu et al, 1993Liu et al, , 1995Dao et al, 1994). Because the deleted area in the present study usually extended over the whole of the chromosome, we cannot exclude the possibility that 13q may harbor other unknown suppressor genes.…”

Section: Discussionmentioning

confidence: 99%

Among numerous DNA copy number changes, losses of chromosome 13 are highly recurrent in plasmacytoma

Aalto

Nordling

Kivioja

et al. 1999

Genes Chromosom. Cancer

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“…27,28,71 It has been commonly interpreted as interstitial, with proximal and distal breakpoints in 13q12 and 13q14-q22, respectively. 96 As the retinoblastoma susceptibility gene (RB-1) is located in this region, it has been postulated that its inactivation may be pathogenetically important. 97 However, Pastore et al 98 found no structural changes in the Rb-1 gene, even in those cases that exhibited loss of heterozygosity at the locus.…”

Section: Chromosome 13mentioning

confidence: 99%

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Reilly

2008

Leukemia

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The frequency of cytogenetic abnormalities in the Philadelphianegative myeloproliferative neoplasms (MPNs) varies from approximately 30% in primary myelofibrosis (PMF) to less than 5% in essential thrombocytosis (ET). The spectrum of aberrations is heterogeneous, ranging from gains and losses of genetic material to structural changes including unbalanced translocations. However, no specific abnormality has been identified to date. Nevertheless, such investigations can provide evidence of clonality and, as a result, cytogenetic findings have been included in the WHO diagnostic criteria for this group of diseases. The aim of the current review is to discuss the pathogenetic insight and prognostic information that standard, as well as molecular cytogenetic analysis has provided. A brief overview is given of the cytogenetic findings in the individual diseases, followed by a more detailed discussion of the possible pathogenetic consequences of specific abnormalities and their impact on prognosis.

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Molecular Definition of Interstitial Deletions of Chromosome 13 in Leukemic Cells

Cited by 30 publications

References 35 publications

Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases

Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases

Among numerous DNA copy number changes, losses of chromosome 13 are highly recurrent in plasmacytoma

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

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