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Blood, Vol. 93 No. 4 (February 15), 1999: pp. 1330-1337

Molecular Analysis of 11q13 Breakpoints in Multiple Myeloma

Domenica Ronchetti, Palma Finelli, Raffaella Richelda, Luca Baldini, Mariano Rocchi, Luigi Viggiano, Antonio Cuneo, Silvia Bogni, Sonia Fabris, Luigia Lombardi, Anna Teresa Maiolo, and Antonino Neri

From the Laboratorio di Ematologia Sperimentale e Genetica Molecolare, Servizio di Ematologia, Università degli Studi di Milano, Ospedale Maggiore IRCCS, Milano; Istituto di Genetica, Università di Bari, Bari; and Dipartimento di Scienze Biomediche e Terapie Avanzate, Università di Ferrara, Ferrara, Italy.

The t(11;14)(q13;q32) chromosomal translocation, which is the hallmark of mantle cell lymphoma (MCL), is found in approximately 30% of multiple myeloma (MM) tumors with a 14q32 translocation. Although the overexpression of cyclin D1 has been found to be correlated with MM cell lines carrying the t(11;14), rearrangements of the BCL-1/cyclin D1 regions frequently involved in MCL rarely occur in MM cell lines or primary tumors. To test whether specific 11q13 breakpoint clusters may occur in MM, we investigated a representative panel of primary tumors by means of Southern blot analysis using probes derived from MM-associated 11q13 breakpoints. To this end, we first cloned the breakpoints and respective germ-line regions from a primary tumor and the U266 cell line, as well as the germ-line region from the KMS-12 cell line. DNA from 50 primary tumors was tested using a large panel of probes, but a rearrangement was detected in only one case using the KMS-12 breakpoint probe. Our results confirm previous findings that the 11q13 breakpoints in MM are scattered throughout the 11q13 region encompassing the cyclin D1 gene, thus suggesting the absence of 11q13 breakpoint clusters in MM.


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