Analysis of chromosomal abnormalities in phenotypically normal
plasma cells detected by I-FISH in monoclonal gammopathy of
undetermined significance

a 2012

Analysis of chromosomal abnormalities in phenotypically normal plasma cells detected by I-FISH in monoclonal gammopathy of undetermined significance

MIKULÁŠOVÁ, Aneta; Petr KUGLÍK; Jan SMETANA; Henrieta GREŠLIKOVÁ; Renata KUPSKÁ et. al.

Basic information

Original name

Analysis of chromosomal abnormalities in phenotypically normal plasma cells detected by I-FISH in monoclonal gammopathy of undetermined significance

Authors

MIKULÁŠOVÁ, Aneta; Petr KUGLÍK; Jan SMETANA; Henrieta GREŠLIKOVÁ; Renata KUPSKÁ; Pavel NĚMEC; Lucie ŘÍHOVÁ; Mária KLINCOVÁ and Roman HÁJEK

Edition

European Human Genetics Conference 2012, Nürnberg, Germany, 2012

Other information

Language

English

Type of outcome

Conference abstract

Field of Study

30200 3.2 Clinical medicine

Country of publisher

Germany

Confidentiality degree

is not subject to a state or trade secret

Organization unit

Faculty of Medicine

Keywords in English

Monoclonal gammopathy of undetermined significance

Changed: 29/11/2012 14:44, Mgr. Anna Potáčová, Ph.D.

Abstract

In the original language

Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant stage of multiple myeloma. MGUS consists of phenotypically normal (nPCs; CD138+19+56-) and abnormal malign plasma cells (aPCs; CD138+19-56+/-). Combination of fluorescence activated cell sorting (FACS) and interphase fluorescence in situ hybridization (I-FISH) allows monitoring of specific chromosomal abnormalities in separate PCs populations. We hypothesized that there should not be any chromosomal abnormalities in nPCs. By I-FISH we examined following chromosomal alterations in nPCs and aPCs: del(13)(q14), del(17)(p13), IGH rearrangement, 1q21 gain and hyperdiploidy (+5, +9 and +15). In this study, we chose MGUS patients from whom it was possible to separate nPCs and aPCs and who had IGH rearrangement in aPCs (n=15). In the nPCs we found only IGH disruption. Total of 27% (4/15) and 73% (11/15) MGUS patients have more than 20% and 10% aberrant PCs bearing IGH rearrangement not only in aPCs, but also in nPCs, respectively. Other chromosomal abnormalities were detected only in aPCs: del(13)(q14) was found in 20% (3/15), 1q21 gain in 7% (1/15) and hyperdiploidy in 13% (2/15). In conclusion, we found IGH rearrangement in phenotypically nPCs defined by CD138+CD19+CD56- and thus we assume that the separation according to this phenotype is not sufficinent to separate genetically nPCs.

Links

GAP304/10/1395, research and development project

Name: Analýza klonálních progenitorů plazmatických buněk u monoklonálních gamapatií

Investor: Czech Science Foundation

MSM0021622415, plan (intention)

Name: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations

MSM0021622434, plan (intention)

Name: Od klasických prognostických markerů ke klinicky aplikovatelným farmakogenomickým a farmakoproteomickým projektům u mnohočetného myelomu a monoklonálních gamapatií

Investor: Ministry of Education, Youth and Sports of the CR, From classic prognostic markers to clinical applications in selected pharmacogenomic and pharmacoproteomic projects in multiple myeloma and monoclonal gammapathies

NT11154, research and development project

Name: Úloha mitotické disrupce v B lymfocytech u mnohočetném myelomu

Investor: Ministry of Health of the CR

Cite

MIKULÁŠOVÁ, Aneta; Petr KUGLÍK; Jan SMETANA; Henrieta GREŠLIKOVÁ; Renata KUPSKÁ; Pavel NĚMEC; Lucie ŘÍHOVÁ; Mária KLINCOVÁ and Roman HÁJEK. Analysis of chromosomal abnormalities in phenotypically normal plasma cells detected by I-FISH in monoclonal gammopathy of undetermined significance. In European Human Genetics Conference 2012, Nürnberg, Germany. 2012.

@proceedings{1075314,
   author = {Mikulášová, Aneta and Kuglík, Petr and Smetana, Jan and Grešliková, Henrieta and Kupská, Renata and Němec, Pavel and Říhová, Lucie and Klincová, Mária and Hájek, Roman},
   booktitle = {European Human Genetics Conference 2012, Nürnberg, Germany},
   keywords = {Monoclonal gammopathy of undetermined significance},
   language = {eng},
   title = {Analysis of chromosomal abnormalities in phenotypically normal plasma cells detected by I-FISH in monoclonal gammopathy of undetermined significance},
   year = {2012}
}

TY  - CONF
ID  - 1075314
AU  - Mikulášová, Aneta - Kuglík, Petr - Smetana, Jan - Grešliková, Henrieta - Kupská, Renata - Němec, Pavel - Říhová, Lucie - Klincová, Mária - Hájek, Roman
PY  - 2012
TI  - Analysis of chromosomal abnormalities in phenotypically normal plasma cells detected by I-FISH in monoclonal gammopathy of undetermined significance
KW  - Monoclonal gammopathy of undetermined significance
N2  - Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant stage of multiple myeloma. MGUS consists of phenotypically normal (nPCs; CD138+19+56-) and abnormal malign plasma cells (aPCs; CD138+19-56+/-). Combination of fluorescence activated cell sorting (FACS) and interphase fluorescence in situ hybridization (I-FISH) allows monitoring of specific chromosomal abnormalities in separate PCs populations. We hypothesized that there should not be any chromosomal abnormalities in nPCs. By I-FISH we examined following chromosomal alterations in nPCs and aPCs: del(13)(q14), del(17)(p13), IGH rearrangement, 1q21 gain and hyperdiploidy (+5, +9 and +15). In this study, we chose MGUS patients from whom it was possible to separate nPCs and aPCs and who had IGH rearrangement in aPCs (n=15). In the nPCs we found only IGH disruption. Total of 27% (4/15) and 73% (11/15) MGUS patients have more than 20% and 10% aberrant PCs bearing IGH rearrangement not only in aPCs, but also in nPCs, respectively. Other chromosomal abnormalities were detected only in aPCs: del(13)(q14) was found in 20% (3/15), 1q21 gain in 7% (1/15) and hyperdiploidy in 13% (2/15). In conclusion, we found IGH rearrangement in phenotypically nPCs defined by CD138+CD19+CD56- and thus we assume that the separation according to this phenotype is not sufficinent to separate genetically nPCs.
ER  -

MIKULÁŠOVÁ, Aneta; Petr KUGLÍK; Jan SMETANA; Henrieta GREŠLIKOVÁ; Renata KUPSKÁ; Pavel NĚMEC; Lucie ŘÍHOVÁ; Mária KLINCOVÁ and Roman HÁJEK. Analysis of chromosomal abnormalities in phenotypically normal plasma cells detected by I-FISH in monoclonal gammopathy of undetermined significance. In \textit{European Human Genetics Conference 2012, Nürnberg, Germany}. 2012.

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