Cytogenetics of primary skin tumors

Carless, Melanie A. & Griffiths, Lyn R. (2011) Cytogenetics of primary skin tumors. In Murphy, Michael, J (Ed.) Molecular Diagnostics in Dermatology and Dermatopathology. Springer, pp. 57-72.

[img] Accepted Version (PDF 147kB)
Administrators only | Request a copy from author

View at publisher

Abstract

Skin tumors can arise as a result of cumulative genetic abnormalities, including chromosomal ­aberrations that can be described as either morphological (structural rearrangements) or molecular (copy number variations). Cytogenetic techniques have been used to examine both large and small chromosomal aberrations, and include karyotyping, comparative genomic hybridization, and fluorescence in situ hybridization. This chapter describes the recurrent aberrations associated with skin tumors, such as benign melanocytic nevi, melanoma, basal cell carcinoma, squamous cell carcinoma, actinic (solar) keratosis, Bowen’s disease, keratoacanthoma, Merkel cell carcinoma, dermatofibrosarcoma protuberans, and cutaneous lymphomas, as detected by cytogenetic methodologies. A significant number of genomic aberrations are shared across different subtypes of skin tumors, including structural and numerical alterations of chromosome 1, −3p, +3q, +6, +7, +8q, −9p, +9q, −10, −17p, +17q and +20. Aberrations specific to certain skin cancers have also been detected, and include: loss of 18q in squamous cell carcinoma, but not its precursor, actinic keratosis; loss of 9q22 in sporadic basal cell carcinoma; and translocation involving 17q22 and 22q13 in dermatofibrosarcoma protuberans. These regions contain a number of potential candidate genes that are involved in aspects of cell signaling, proliferation, differentiation, and apoptosis. Cytogenetic methodologies continue to evolve with the advent of array-based comparative genomic hybridization, copy number variation microarrays, and next-generation sequencing. It is envisioned that cytogenetic analysis will continue to be employed for identification and further exploration of novel chromosomal regions and associated genes that drive skin tumorigenesis.

Impact and interest:

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 62544
Item Type: Book Chapter
Keywords: Pathology, Microbiology, Molecular Medicine
DOI: 10.1007/978-1-60761-171-4_4
ISBN: 978-1-60761-171-4
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright Springer 2011
Deposited On: 16 Sep 2013 02:01
Last Modified: 21 Aug 2016 15:55

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page