Abstract:
:To characterize genetic contributions toward aberrant splicing of the hyaluronan synthase 1 (HAS1) gene in multiple myeloma (MM) and Waldenstrom macroglobulinemia (WM), we sequenced 3616 bp in HAS1 exons and introns involved in aberrant splicing, from 17 patients. We identified a total of 197 HAS1 genetic variations (GVs), a range of 3 to 24 GVs/patient, including 87 somatic GVs acquired in splicing regions of HAS1. Nearly all newly identified inherited and somatic GVs in MM and/or WM were absent from B chronic lymphocytic leukemia, nonmalignant disease, and healthy donors. Somatic HAS1 GVs recurred in all hematopoietic cells tested, including normal CD34(+) hematopoietic progenitor cells and T cells, or as tumor-specific GVs restricted to malignant B and plasma cells. An in vitro splicing assay confirmed that HAS1 GVs direct aberrant HAS1 intronic splicing. Recurrent somatic GVs may be enriched by strong mutational selection leading to MM and/or WM.
journal_name
Bloodjournal_title
Bloodauthors
Adamia S,Reichert AA,Kuppusamy H,Kriangkum J,Ghosh A,Hodges JJ,Pilarski PM,Treon SP,Mant MJ,Reiman T,Belch AR,Pilarski LMdoi
10.1182/blood-2008-02-141770subject
Has Abstractpub_date
2008-12-15 00:00:00pages
5111-21issue
13eissn
0006-4971issn
1528-0020pii
blood-2008-02-141770journal_volume
112pub_type
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