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 Blood, 15 December 2008, Vol. 112, No. 13, pp. 5111-5121.
Prepublished online as a Blood First Edition Paper on September 24, 2008; DOI 10.1182/blood-2008-02-141770.

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NEOPLASIA

Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia

Sophia Adamia1, Amanda A. Reichert1, Hemalatha Kuppusamy1, Jitra Kriangkum1, Anirban Ghosh1, Jennifer J. Hodges1, Patrick M. Pilarski2, Steven P. Treon3, Michael J. Mant4, Tony Reiman1, Andrew R. Belch1, and Linda M. Pilarski1

Departments of 1 Oncology and 2 Electrical and Computer Engineering, University of Alberta, Cross Cancer Institute, Edmonton, AB; 3 Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA; and 4 Department of Medicine, University of Alberta, Cross Cancer Institute, Edmonton, AB

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.


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A. Ghosh, H. Kuppusamy, and L. M. Pilarski
Aberrant Splice Variants of HAS1 (Hyaluronan Synthase 1) Multimerize with and Modulate Normally Spliced HAS1 Protein: A POTENTIAL MECHANISM PROMOTING HUMAN CANCER
J. Biol. Chem., July 10, 2009; 284(28): 18840 - 18850.
[Abstract] [Full Text] [PDF]


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