Genetic abnormalities in chronic lymphocytic leukemia and their clinical and prognostic implications

Dierlamm, Judith; Michaux, Lucienne; Criel, A.; Włodarska, Iwona; Berghe, Herman Van den; Hossfeld, Dieter K.

doi:10.1016/s0165-4608(96)00246-4

Cited by 65 publications

(53 citation statements)

References 64 publications

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“…21 The nature of 13q14 deletions in MM seems to be different to that of similar deletions in CLL (seen in up to 66% of cases). 17,20,[22][23][24][25][26][27][28] In CLL, there appears to be an area of minimal deletion located at 13q14 and monosomy or large deletions appear not to be as common as in MM. 26,29 In contrast to MM, deletions at 13q14 have been associated with an improved…”

Section: Discussionmentioning

confidence: 99%

“…outcome in CLL patients. 26,27 Once more, the specific roles these abnormalities play in both disorders need to be better elucidated. It is possible that the loss of material at 13q14 affects clonal cells in different manners according to the stage of B-cell differentiation, or it may signify a different biology and consequences for deletions at this site in the two diseases.…”

Section: Figurementioning

confidence: 99%

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Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy

Oken²,

et al. 2001

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Deletions of the long arm of chromosome 13 (13q−) are observed in patients with multiple myeloma (MM), are rarely observed in the monoclonal gammopathy of undetermined significance (MGUS) and have been associated with a worsened prognosis in MM. However, no minimally deleted region in the13q arm has been defined at 13q, and consequently no tumor suppressor genes have yet been identified that are important for disease pathogenesis. We attempted to characterize these chromosome 13q deletions at the molecular cytogenetic level. We studied 351 newly diagnosed patients, entered into the E9486/E9487 clinical study of the Eastern Cooperative Oncology Group. Fluorescent in situ hybridization (FISH) combined with immune fluorescent detection (cIg-FISH) of clonal plasma cells (PC) and cytomorphology were used to analyze interphase, bone marrow (BM) cell, cytospin slides. We simultaneously used DNA probes for the following locus specific probes (LSI); LSI 13 (Rb) and D13S319, which hybridize to 13q14. We subsequently studied distal deletions using the D13S25 probe (13q14.3) and a subtelomeric probe (13qSTP) for the 13q-arm (D13S327) in 40 cases with documented LSI 13 (Rb)/D13S319 deletion and 40 without deletion of these loci. Of 325 evaluable patients, we found 13q deletions in 176 (54%) using LSI 13 (Rb) and D13S319 probes. Of 40 patients with LSI 13 (Rb)/D13S319 deletions, 34 (85%) had coexistent deletion of both D13S25/13qSTP. These results indicate that chromosome 13 deletions in MM involve loss of most if not all of the 13q arm perhaps even indicating monosomy. In six cases the 13qSTP signal was conserved, but D13S25 was lost indicating large interstitial deletions involving 13q14. In 39 of the 40 cases without LSI 13 (Rb)/D13S319 deletions, the normal pattern of two pairs of signals was observed for D13S25/13qSTP. Deletions involving 13q14 are very common in MM as detected by cIg-FISH. These deletions appear to predominantly involve loss of large segments of the 13q arm or monosomy 13, and only occasionally represent an interstitial deletion. Leukemia (2001) 15, 981-986.

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Section: Discussionmentioning

confidence: 99%

Section: Figurementioning

confidence: 99%

Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy

Oken²,

et al. 2001

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“…16 This abnormality occurs in 13% to 19% of CLL cases and contains the locus of the ATM (ataxia telangiectasia mutated) gene, which plays an important role in the 'apoptotic pathway' which is part of the DNA damage response pathway and involved in cell-cycle control and DNA repair. 1,5,6,16,26 In our study, patients with aspirates containing abnormalities of chromosome 11q22 had a 2.7 increased risk of death compared with those without the aberrations.…”

Section: Discussionmentioning

confidence: 45%

“…1 In SLL, the incidence of trisomy 12 ranges from 10% to 55% using FISH, 9 and its presence is associated with an atypical morphology. 6,24,25 In the current study. trisomy 12 was not observed more frequently in SLLacc, although this group is not analogous to atypical SLL.…”

Section: Discussionmentioning

confidence: 87%

“…[3][4][5][6] Chronic lymphocytic leukemia (CLL), which may include SLL as part of the disease spectrum, has chromosomal aberrations in 16% to 82% of cases, depending on the type of analysis. [6][7][8][9] Interphase fluorescence in situ hybridization (FISH) has an enhanced ability over conventional cytogenetics to detect specific chromosomal abnormalities 7,8 ; however, to our knowledge only a limited number of specific chromosomal abnormalities can be analyzed as a routine laboratory test. 5,7 A 2-panel multicolor FISH probe designed to aid in the diagnosis of CLL detects chromosomal anomalies of chromosomes 11q22 (ATM gene), 12, 13q14.3, 13q34.3 (LAMP1 gene), and 17p13.1 (p53 gene) and is commercially available.…”

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confidence: 99%

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