Detection of t(4;14)(p16.3;q32) Chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts

U. Malgeri, L. Baldini, V. Perfetti, S. Fabris, M. C. Vignarelli, G. Colombo, V. Lotti, S. Compasso, S. Bogni, L. Lombardi, A. T. Maiolo, A. Neri

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Abstract

We and others have recently identified a novel recurring t(4;14)(p16.3;q32) translocation in multiple myeloma (MM) that leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes. Because the presence of IGH-MMSET hybrid transcripts has been found in MM cell lines with t(4;14), they may represent a specific tumor-associated marker in MM. In this study, we developed a reverse transcription-PCR (RT-PCR) assay for detecting chimeric transcripts from all of the 4p16.3 breakpoints identified thus far, and we used it to investigate a representative panel of 53 MM patients and 16 patients with monoclonal gammopathy of uncertain significance; in addition, t(4;14) was investigated in all of the MM patients by means of two-color fluorescence in situ hybridization. IGH-MMSET transcripts were found in 11 of the 53 (20%) MM cases and 1 of 16 (6%) cases of monoclonal gammopathy of uncertain significance. There was complete concordance between the RT-PCR and fluorescence in situ hybridization analyses of the MM cases. The results of this study indicate that RT-PCR is a sensitive and reliable method of detecting t(4;14) and suggest that it may be useful for monitoring the disease in a significant proportion of patients.

Original languageEnglish
Pages (from-to)4058-4061
Number of pages4
JournalCancer Research
Volume60
Issue number15
Publication statusPublished - 2000

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Genetic Translocation
Multiple Myeloma
Reverse Transcription
Polymerase Chain Reaction
Paraproteinemias
Fluorescence In Situ Hybridization
Tumor Biomarkers
Color
Cell Line
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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Detection of t(4;14)(p16.3;q32) Chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts. / Malgeri, U.; Baldini, L.; Perfetti, V.; Fabris, S.; Vignarelli, M. C.; Colombo, G.; Lotti, V.; Compasso, S.; Bogni, S.; Lombardi, L.; Maiolo, A. T.; Neri, A.

In: Cancer Research, Vol. 60, No. 15, 2000, p. 4058-4061.

Research output: Contribution to journalArticle

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abstract = "We and others have recently identified a novel recurring t(4;14)(p16.3;q32) translocation in multiple myeloma (MM) that leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes. Because the presence of IGH-MMSET hybrid transcripts has been found in MM cell lines with t(4;14), they may represent a specific tumor-associated marker in MM. In this study, we developed a reverse transcription-PCR (RT-PCR) assay for detecting chimeric transcripts from all of the 4p16.3 breakpoints identified thus far, and we used it to investigate a representative panel of 53 MM patients and 16 patients with monoclonal gammopathy of uncertain significance; in addition, t(4;14) was investigated in all of the MM patients by means of two-color fluorescence in situ hybridization. IGH-MMSET transcripts were found in 11 of the 53 (20{\%}) MM cases and 1 of 16 (6{\%}) cases of monoclonal gammopathy of uncertain significance. There was complete concordance between the RT-PCR and fluorescence in situ hybridization analyses of the MM cases. The results of this study indicate that RT-PCR is a sensitive and reliable method of detecting t(4;14) and suggest that it may be useful for monitoring the disease in a significant proportion of patients.",
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T1 - Detection of t(4;14)(p16.3;q32) Chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts

AU - Malgeri, U.

AU - Baldini, L.

AU - Perfetti, V.

AU - Fabris, S.

AU - Vignarelli, M. C.

AU - Colombo, G.

AU - Lotti, V.

AU - Compasso, S.

AU - Bogni, S.

AU - Lombardi, L.

AU - Maiolo, A. T.

AU - Neri, A.

PY - 2000

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