Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma
| Autor: | Christine Terré, Annika Dufour, Benoît Ducourneau, Thomas Smol, Sabine Tricot, Hervé Bisiau, Mathieu Wemeau, Franck Bernardi, Agnès Daudignon, Laure Stalnikiewicz |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
lcsh:QH426-470 Chromosomal translocation Newly diagnosed Biology Biochemistry Gastroenterology 1q21 gain 03 medical and health sciences 0302 clinical medicine Internal medicine Genetics medicine 1p32 deletion Molecular Biology Genetics (clinical) Multiple myeloma Research Biochemistry (medical) Cytogenetics Fish analysis medicine.disease Molecular biology lcsh:Genetics 030220 oncology & carcinogenesis Interphase FISH Molecular Medicine Fish Thresholds Multiple Myeloma 030215 immunology |
| Zdroj: | Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-6 (2017) Molecular Cytogenetics |
| ISSN: | 1755-8166 |
| Popis: | Background Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in the literature. Methods Two hundred thirty-three patients with MM at diagnosis were studied using FISH to target 4 unfavorable cytogenetic abnormalities: 17p13 deletion, t(4;14) translocation, 1p32 deletion and 1q21 gain. Technical thresholds were determined for each probe using isolated CD138-expressing PC from patients without MM. Results The FISH analysis identified abnormalities in 79.0% of patients. Del(17p13) was detected in 15.0% of cases, t(4;14) in 11.5%, 1q21 gain in 37.8% and del(1p32) in 8.7%. Adding 1p32/1q21 FISH probes has enabled us to identify adverse cytogenetic profiles in 39.0% of patients without del(17p13) or t(4;14). Clonal heterogeneity was observed in 51.1% of patients as well as an increase in the number of adverse abnormalities when related clones were greater than or equal to 2 (85.1% against 45.6%). Conclusion FISH allowed detecting accumulation of adverse abnormalities and clonal heterogeneity in MM with a combination of 4 probes. The impacts of these two parameters need to be evaluated, and could be included in future cytogenetic classifications. |
| Databáze: | OpenAIRE |
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