Cytogenetic study in multiple myeloma at diagnosis: comparison of two techniques

Smadja, N; Louvet, Christophe; Isnard, F; Dutel, Jean-Louis; Grange, Marie‐José; Varette, C.; Krulik, M

doi:10.1111/j.1365-2141.1995.tb05593.x

Cited by 41 publications

(56 citation statements)

References 12 publications

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“…Eight large published series have been reviewed constituting 173 hyperdiploid karyotypes. 5,7,[14][15][16][17][18][19] The most frequently gained chromosomes were chromosomes 9 (156/173), 15 We then examined what would be the most sensitive and specific combination of three probes for the detection of hyperdiploidy. The analysis showed that the combination of chromosomes 5, 9, and 15 is the best compromise between specificity and sensitivity.…”

Section: Probe Selectionmentioning

confidence: 99%

Ploidy, as detected by fluorescence in situ hybridization, defines different subgroups in multiple myeloma

et al. 2004

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Ploidy appears as an important parameter in both the biology and the clinical evolution of multiple myeloma. However, its evaluation requires either a successful karyotyping (obtained in 30% of the patients) or a DNA index calculation by flow cytometry (not routinely performed in myeloma). We validated a novel method based on interphase fluorescence in situ hybridization that can be utilitized to analyze almost all the patients. The method was very specific and sensitive for the detection of hyperdiploidy. Extended studies showed that most recurrent 14q32 translocations occur in nonhyperdiploid clones, and that deletions of chromosome 13 were less frequently observed in hyperdiploid clones (48 vs 66%). Further large studies are ongoing to evaluate the prognostic value of ploidy in myeloma.

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Section: Probe Selectionmentioning

confidence: 99%

Ploidy, as detected by fluorescence in situ hybridization, defines different subgroups in multiple myeloma

et al. 2004

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“…Deletions of the long arm of chromosome 13 (13q−), mostly at the q14 site, and monosomy of chromosome 13 are commonly described in MM PC as determined by conventional metaphase analysis, [1][2][3] comparative genomic hybridization 4,5 and multicolor metaphase FISH (SKY). 6,7 Tricot and colleagues have associated the presence of 13q− with an adverse prognosis in patients with MM 8,9 and proposed this genomic abnormality as one of the most important prognostic factors for MM patients.…”

Section: Introductionmentioning

confidence: 99%

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

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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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“…1 In order to improve the detection of chromosomal abnormalities different cytokines have been used, however the incidence of abnormal karyotypes remains below 60%. [2][3][4][5] Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that allows analysis of chromosomal copy number changes without the requirement of tumoral metaphases. 6 Accordingly, CGH would be particularly useful for identifying gains and losses of DNA sequences in tumors with a low proliferative index, such as MM.…”

Section: Introductionmentioning

confidence: 99%

Differences in genetic changes between multiple myeloma and plasma cell leukemia demonstrated by comparative genomic hybridization

et al. 2001

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To analyze the genomic differences between multiple myeloma (MM) and plasma cell leukemia (PCL), a total of 30 cases were studied by comparative genomic hybridization (CGH). In five cases with a low proportion of plasma cells (PC) in bone marrow, an enrichment of PC was performed by using immunomagnetic beads conjugated with the monoclonal antibody B-B4. In 24 out of the 25 MM (96%) and in all five PCL (100%) patients DNA copy number changes were identified by CGH analysis; in the MM case without chromosomal imbalances, the immunomagnetic enrichment of PC had failed. The most recurrent changes in MM patients were gains at chromosomes 15q (48%), 11q (44%), 3q (40%), 9q (40%) and 1q (36%). By contrast, all PCL patients showed gains in 1q. Losses of chromosomal material were significantly more frequent in PCL than in MM patients (P = 0.03): losses on 13q in 80% of PCL vs 28% of MM; and on chromosome 16 in 80% vs 12%, respectively. In addition, PCL patients showed losses of 2q and 6p that were not present in MM. The CGH data show differences in chromosomal imbalances between MM and PCL. Leukemia (2001) 15, 840-845.

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Cytogenetic study in multiple myeloma at diagnosis: comparison of two techniques

Cited by 41 publications

References 12 publications

Ploidy, as detected by fluorescence in situ hybridization, defines different subgroups in multiple myeloma

Ploidy, as detected by fluorescence in situ hybridization, defines different subgroups in multiple myeloma

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

Differences in genetic changes between multiple myeloma and plasma cell leukemia demonstrated by comparative genomic hybridization

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