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Kramer, A; Gattenlohner, S; Neben, K.
CUP syndrome: molecular pathogenesis and biology
Pathologe. 2009; 30(2):117-124 Doi: 10.1007/s00292-008-1114-z
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Co-authors Med Uni Graz
Gattenlöhner Stefan
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Abstract:
Carcinoma of unknown primary (CUP) is an intriguing clinical finding defined as biopsy-proven metastasis from a malignancy in the absence of an identifiable primary site after a complete clinical workup. CUP is a relatively common clinical entity, accounting for approximately 3-5% of all cancer diagnoses, and consists of a heterogeneous group of tumors that have acquired the capacity to metastasize before the development of a clinically evident primary lesion. The mechanisms responsible for early metastasis and lack of a detectable primary tumor are largely unknown. Although remarkable tools have been developed for immunohistological classification of CUP on the basis of the likely tissue of origin, data on molecular pathogenesis and biology of this disorder are rare. A wide variety of chromosomal aberrations are seen in CUP, with aberrations of chromosomes 1, 6, 7, and 11 having been most frequently described. 66-75% of CUP express epidermal growth factor receptor while overexpression of Her2/neu seems to be rare. In contrast to most other tumor entities p53 mutations have been found only in a minority of CUP tumors. Recently, several independent studies have demonstrated proof of principle for the use of gene expression microarrays in identifying a primary site for CUP. Therefore, gene expression and also genomic profiling tools represent promising analytical approaches to assist with the management of CUP patients.
Find related publications in this database (using NLM MeSH Indexing)
Biopsy -
Chromosome Aberrations -
Chromosomes, Human - genetics
Gene Expression -
Humans -
Lung Neoplasms - genetics Lung Neoplasms - pathology
Mutation -
Neoplasm Metastasis - pathology
Neoplasms, Unknown Primary - epidemiology Neoplasms, Unknown Primary - genetics Neoplasms, Unknown Primary - pathology
Oligonucleotide Array Sequence Analysis -
Receptor, erbB-2 - genetics
Syndrome -

Find related publications in this database (Keywords)
CUP syndrome
Unknown primary
Oncogene
Gene expression analysis
Chromosomal aberration
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