Mutation Analysis in Merkel Cell Carcinoma
Author Information
Author(s): Gele M Van, Kaghad M, Leonard J H, Roy N Van, Naeyaert J M, Geerts M L, Belle S Van, Cocquyt V, Bridge J, Sciot R, Wolf-Peeters C De, Paepe A De, Caput D, Speleman F
Primary Institution: University Hospital, Ghent
Hypothesis
Is the p73 gene involved in the development of Merkel cell carcinoma?
Conclusion
The study found that p73 is infrequently mutated in Merkel cell carcinoma, while TP53 mutations may play a role in some cases.
Supporting Evidence
- The p73 gene is located in a region frequently deleted in various tumors.
- Previous studies showed no evidence of p73 involvement in several other cancers.
- A mis-sense mutation in p73 was found in one MCC tumor.
- TP53 mutations were detected in three of the 15 examined MCCs.
- UVB induced mutations were found in one MCC cell line.
Takeaway
The researchers looked for changes in two genes in a type of skin cancer called Merkel cell carcinoma and found that one gene is rarely changed, while the other might be important for some patients.
Methodology
Mutation analysis of p73 and TP53 genes in five MCC cell lines and ten MCC tumors.
Digital Object Identifier (DOI)
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