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Deutsch, AJ; Frühwirth, M; Aigelsreiter, A; Cerroni, L; Neumeister, P.
Primary cutaneous marginal zone B-cell lymphomas are targeted by aberrant somatic hypermutation.
J Invest Dermatol. 2009; 129(2): 476-479. [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Aigelsreiter Ariane
Cerroni Lorenzo
Deutsch Alexander
Frühwirth Margareta
Neumeister Peter
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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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Proto-Oncogene Proteins c-myc - genetics
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