Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
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.
Doi: 10.1038/jid.2008.243
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- Führende Autor*innen der Med Uni Graz
- Deutsch Alexander
- Neumeister Peter
- Co-Autor*innen der Med Uni Graz
- Aigelsreiter Ariane
- Cerroni Lorenzo
- Frühwirth Margareta
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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.
- Find related publications in this database (using NLM MeSH Indexing)
- Amino Acid Substitution - genetics
- B-Cell-Specific Activator Protein - genetics
- DNA Mutational Analysis -
- Genomic Instability -
- Humans -
- Lymphoma, B-Cell - genetics
- Proto-Oncogene Proteins c-myc - genetics
- Proto-Oncogene Proteins c-pim-1 - genetics
- Skin Neoplasms - genetics
- Somatic Hypermutation, Immunoglobulin -
- Transcription Factors - genetics
- rho GTP-Binding Proteins - genetics