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Primary Cutaneous Marginal Zone B-Cell Lymphomas Are Targeted by Aberrant Somatic Hypermutation

Deutsch, Alexander J.A., Frühwirth, Margareta, Aigelsreiter, Ariane, Cerroni, Lorenzo, Neumeister, Peter·2009·Journal of Investigative Dermatology
DOI 10.1038/jid.2008.243
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Abstract

A mechanism inducing genetic instability, termed aberrant somatic hypermutation (ASHM), has been described in diffuse large B-cell lymphoma. To further investigate whether ASHM also occurs in primary cutaneous marginal zone B-cell lymphoma (PCMZL), we studied the mutational profile of PAX5, RhoH/TTF, cMYC, and PIM1 in 11 PCMZLs. A total of 17 sequence variants were found in 8 of 11 lymphomas cases (72.7%), and they displayed the molecular features typical for the ASHM. Further, two mutations, one mutation in PIM1 and one in cMYC, led to amino-acid substitution with potential functional consequences. These data indicate that ASHM is associated with PCMZLs. By mutating regulatory and coding sequences of the targeted genes, ASHM may represent a major contributor to their pathogenesis.

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Research works printed but not linked: 25

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Cited by

Metadata

Authors
Deutsch, A. J. A., Frühwirth, M., Aigelsreiter, A., Cerroni, L., & Neumeister, P.
Venue
Journal of Investigative Dermatology
Publisher
Elsevier BV
Published
2009-02
Volume
129
Issue
2
Pages
476-479
ISSN
0022-202X
DOI
10.1038/jid.2008.243
Cited by
34
References
0
Language
en
Licence

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