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The gene located at chromosome 18 band q21 is rearranged in uncultured
diffuse lymphomas as well as follicular lymphomas
MS Lee, MB Blick, S Pathak, JM Trujillo, JJ Butler, RL Katz, P McLaughlin, FB Hagemeister, WS Velasquez and A Goodacre
The karyotypic abnormality t(14;18)(q32;q21) is reported to occur in 75% of
follicular lymphomas. This translocation results in the rearrangement of a
putative oncogene bcl-2, which resides at chromosome 18 band q21 (the 18q21
gene). Using two human genomic DNA fragments cloned from the chromosome 18
band q21 as probes, we analyzed 65 uncultured human lymphoma samples by the
Southern blot technique. The 18q21 gene was rearranged in 18 of 26 (69%)
follicular lymphomas, 3 of 5 (60%) follicular lymphomas transformed to
large cell lymphomas, 8 of 20 (40%) diffuse large cell lymphomas (DLCLs),
and 2 of 7 (29%) small noncleaved cell lymphomas (SNCs). Our analysis
detected rearrangement of the 18q21 gene in 10 of 13 (77%) cases in which
the t(14;18)(q32;q21) translocation was found by cytogenetic techniques.
Our analysis also proved helpful in difficult karyotyping situations: (a)
identifying the donor chromosome fragment as chromosome 18 band q21 in 4 of
9 (44%) cases that cytogenetically displayed a 14q+ chromosome of unknown
origin, and (b) identifying a rearrangement of chromosome 18 band q21 in 12
of 18 (67%) cases that cytogenetically yielded no cells in metaphase. We
also demonstrated three cases of submicroscopic rearrangement of the 18q21
gene. In our studies, patients with DLCLs and rearrangement of the 18q21
gene had a significantly higher incidence of extranodal involvement when
compared with patients with DLCLs and no 18q21 gene rearrangement (P =
0.03).
Volume 70,
Issue 1,
pp. 90-95,
07/01/1987
Copyright © 1987 by The American Society of Hematology
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