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Cancers 2014, 6(4), 2116-2136; doi:10.3390/cancers6042116

Mutational Analysis of Merkel Cell Carcinoma

1
Department of Surgery, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
2
Division of Surgical Oncology, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
*
Author to whom correspondence should be addressed.
Received: 28 July 2014 / Revised: 15 September 2014 / Accepted: 24 September 2014 / Published: 17 October 2014
(This article belongs to the Special Issue Merkel Cell Carcinoma)
View Full-Text   |   Download PDF [774 KB, uploaded 17 October 2014]   |  

Abstract

Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine malignancy that is associated with a poor prognosis. The pathogenesis of MCC is not well understood, and despite a recent plethora of mutational analyses, we have yet to find a set of signature mutations implicated in the majority of cases. Mutations, including TP53, Retinoblastoma and PIK3CA, have been documented in subsets of patients. Other mechanisms are also likely at play, including infection with the Merkel cell polyomavirus in a subset of patients, dysregulated immune surveillance, epigenetic alterations, aberrant protein expression, posttranslational modifications and microRNAs. In this review, we summarize what is known about MCC genetic mutations and chromosomal abnormalities, and their clinical significance. We also examine aberrant protein function and microRNA expression, and discuss the therapeutic and prognostic implications of these findings. Multiple clinical trials designed to selectively target overexpressed oncogenes in MCC are currently underway, though most are still in early phases. As we accumulate more molecular data on MCC, we will be better able to understand its pathogenic mechanisms, develop libraries of targeted therapies, and define molecular prognostic signatures to enhance our clinicopathologic knowledge. View Full-Text
Keywords: merkel cell carcinoma; merkel cell polyomavirus; tumor suppressor; oncogene; prognostic algorithm; mutational analysis merkel cell carcinoma; merkel cell polyomavirus; tumor suppressor; oncogene; prognostic algorithm; mutational analysis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Erstad, D.J.; Cusack, J.C., Jr. Mutational Analysis of Merkel Cell Carcinoma. Cancers 2014, 6, 2116-2136.

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