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Current status of CD44 variant isoforms as cancer diagnostic markers

The CD44 gene is one of the most promising new candidate markers for early cancer detection and for the analysis of genetic disturbances involved in neoplasia. This a large gene which produces a variety of heavily glycosylated cell surface proteins by alternative splicing of its exons. It resides at chromosomal locus 11p13 and is composed of a stretch of approximately 60 kDa comprising at least 21 exons, 10 of which, namely exons 1–5 and 16–20, are expressed together on all cell types as the standard form (CD44s). The remaining exons can be alternatively spliced and assembled within the standard ones (see Figure 1) to generate a number of variant protein isoforms (CD44v), which can be further modified by post-translational glycosylation. By these mechanisms, this gene can produce a large variety of protein isoforms and is one of the most alternatively spliced genes yet defined.