Clinical characteristics and prognostic value of 1q21 gain detected by fluorescence in situ hybridization in patients with newly diagnosed multiple myeloma

2021 ◽  
Author(s):  
Xiao Xiao ◽  
Xinchen Fang ◽  
Wen Yao ◽  
Zhu Huaiping
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Prognostic Value ◽  
Clinical Characteristics ◽  
Newly Diagnosed

Deletion of 13q14 remains an independent adverse prognostic variable in multiple myeloma despite its frequent detection by interphase fluorescence in situ hybridization

Blood ◽  
2000 ◽  
Vol 95 (6) ◽  
pp. 1925-1930 ◽  
Author(s):  
Niklas Zojer ◽  
Robert Königsberg ◽  
Jutta Ackermann ◽  
Elke Fritz ◽  
Susanne Dallinger ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Plasma Cells ◽  
Clinical Importance ◽  
Myeloma Cell ◽  
Fish Analysis ◽  
Newly Diagnosed ◽  
Ki 67

Abstract Interphase fluorescence in situ hybridization (FISH) studies of chromosomal region 13q14 were performed to investigate the incidence and clinical importance of deletions in multiple myeloma (MM). Monoallelic deletions of the retinoblastoma-1 (rb-1) gene and the D13S319 locus were observed in 48 of 104 patients (46.2%) and in 28 of 72 (38.9%) patients, respectively, with newly diagnosed MM. FISH studies found that 13q14 was deleted in all 17 patients with karyotypic evidence of monosomy 13 or deletion of 13q but also in 9 of 19 patients with apparently normal karyotypes. Patients with a 13q14 deletion were more likely to have stage III disease (P = .022), higher serum levels of β2-microglobulin (P = .059), and a higher percentage of bone marrow plasma cells (P = .085) than patients with a normal 13q14 status on FISH analysis. In patients with a deletion of 13q14, myeloma cell proliferation (Ki-67) was markedly increased (22.0% ± 6.9% compared with 15.6% ± 8.2% in patients without the deletion;P = .0008). Evaluation of bromodeoxyuridine incorporation in 5 patients revealed that both rb-1–deleted and rb-1–normal MM subpopulations were proliferative. The presence of a 13q14 deletion on FISH analysis was associated with a significantly lower rate of response to conventional-dose chemotherapy (40.8% compared with 78.6%; P = .009) and a shorter overall survival (24.2 months compared with > 60 months; P < .005) than in patients without the deletion. Multivariate analysis of prognostic factors confirmed the independent predictive value of 13q14 deletions for shortened survival. In conclusion, deletions of 13q14 are frequently detected by interphase FISH in patients with newly diagnosed MM, correlate with increased proliferative activity, and represent an independent adverse prognostic feature in MM.

Ploidy, as Detected by Fluorescence In Situ Hybridization, Defines Different Subgroups in Multiple Myeloma.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4857-4857 ◽  
Author(s):  
Herve Avet-Loiseau ◽  
Soraya Wuilleme ◽  
Nelly Robillard ◽  
Laurence Lode ◽  
Florence Magrangeas ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Flow Cytometry ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Prognostic Value ◽  
Chromosomal Abnormalities ◽  
Dna Index ◽  
Novel Method ◽  
Almost All

Abstract 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 for the detection of hyperdiploidy based on interphase fluorescence in situ hybridization (FISH) that can be utilized on almost all patients. We selected a 3-color probe set composed of probes specific for chromosomes 5, 9, and 15. Two hundred and five patients with myeloma were analyzed by flow cytometry (DNA Index) and FISH, and results obtained by both techniques were then compared. As shown in the table, FISH was very specific and sensitive for the detection of hyperdiploidy. Only 6 of the 104 hyperdiploid patients, all with a low hyperdiploidy (DNA Index <1.10), were classified as diploid by FISH. Extended studies looking for t(4;14), t(11;14), and del(13q14) showed that most recurrent 14q32 translocations occur in non-hyperdiploid clones, and that deletions of chromosome 13 were less frequently observed in hyperdiploid clones (48% vs 66%). These data confirmed that chromosomal abnormalities are not randomly distributed in myeloma and that FISH allows analysis of all the major chromosomal abnormalities. Further large studies are ongoing to evaluate the prognostic value of ploidy in myeloma and to correlate the true prognostic value of all chromosomal abnormalities. Diploid by FISH Hyperdiploid by FISH Tetraploid by FISH t(11;14) t(4;14) del(13q14) DNA index < 1 7 3 2 3 DNA index=1–1.04 91 42 17 61 DNA index=1.05–1.5 6 98 7 7 50 DNA index >1.6 3 1 2

scholarly journals Evidence for Cytogenetic and Fluorescence In Situ Hybridization Risk Stratification of Newly Diagnosed Multiple Myeloma in the Era of Novel Therapies

2010 ◽  
Vol 85 (6) ◽  
pp. 532-537 ◽  
Author(s):  
Prashant Kapoor ◽  
Rafael Fonseca ◽  
S. Vincent Rajkumar ◽  
Shirshendu Sinha ◽  
Morie A. Gertz ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Risk Stratification ◽  
Fluorescence In Situ Hybridization ◽  
Novel Therapies ◽  
Newly Diagnosed

scholarly journals Prognostic value of 13q14 deletion and IgH 14q32 rearrangement by interphase fluorescence in situ hybridization in patients with multiple myeloma

2014 ◽  
Vol 5 (4) ◽  
pp. 141
Author(s):  
MohamedM Moussa ◽  
RaniaN Ali ◽  
DahliaA Elswefy ◽  
NermineI Eman ◽  
NevineA Kassem ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Prognostic Value

scholarly journals Consensus recommendations for risk stratification in multiple myeloma: report of the International Myeloma Workshop Consensus Panel 2

Blood ◽  
2011 ◽  
Vol 117 (18) ◽  
pp. 4696-4700 ◽  
Author(s):  
Nikhil C. Munshi ◽  
Kenneth C. Anderson ◽  
P. Leif Bergsagel ◽  
John Shaughnessy ◽  
Antonio Palumbo ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
High Risk ◽  
Risk Stratification ◽  
Fluorescence In Situ Hybridization ◽  
High Serum ◽  
Β2 Microglobulin ◽  
Poor Outcome ◽  
13Q Deletion

Abstract A panel of members of the 2009 International Myeloma Workshop developed guidelines for risk stratification in multiple myeloma. The purpose of risk stratification is not to decide time of therapy but to prognosticate. There is general consensus that risk stratification is applicable to newly diagnosed patients; however, some genetic abnormalities characteristic of poor outcome at diagnosis may suggest poor outcome if only detected at the time of relapse. Thus, in good-risk patients, it is necessary to evaluate for high-risk features at relapse. Although detection of any cytogenetic abnormality is considered to suggest higher-risk disease, the specific abnormalities considered as poor risk are cytogenetically detected chromosomal 13 or 13q deletion, t(4;14) and del17p, and detection by fluorescence in situ hybridization of t(4;14), t(14;16), and del17p. Detection of 13q deletion by fluorescence in situ hybridization only, in absence of other abnormalities, is not considered a high-risk feature. High serum β2-microglobulin level and International Staging System stages II and III, incorporating high β2-microglobulin and low albumin, are considered to predict higher risk disease. There was a consensus that the high-risk features will change in the future, with introduction of other new agents or possibly new combinations.

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