Gene Fusion in Sarcoma-Paper

Gene fusion is the process of forming a hybrid gene from two separate genes. This process may be as a result of chromosomal inversion, translocation or interstitial deletion.

According to the Cancer Registry of Norway, 2011 Sarcoma is rare cancer that comes from soft tissues, bone and other connective tissues, which accounts for almost one percent of all cancer cases in Norway. In the USA Sarcomas account for approximately 2% of human cancers and can be subdivided into forty subtypes (Zhang et al., 2013). The subgrouping is based on immunophenotypic and histological characteristics although the different types indicate histological features are overlapping.  Accurate gene fusion identification in various subtypes leads to the proper classification of tumors for treatment purposes.

Philadephia chromosome is the first fusion gene to be discovered in hematologic malignancies in the year 1973 in chronic myelogenous leukemia and it comprised of the second exon of Abelson murine leukemia viral oncogene homolog one gene attached to the central part of the breakpoint cluster region (Zhang et al., 2013).

Arguably one of the greatest challenges facing the methods used presently is the fact that one has to identify which fusion gene should be expected in advance and their possible breakpoint.  In previous publications by Micci et al. 2009 and Fioretos et al. 2011 they have been able to identify fusion gene chromosomes, breakpoints between single gene partners and gene fusion detection ability of gene microarray in different cancer types as stated in Skotheim et al. 2013.

An Oligo microarray which is an approach that combines intragenic and chimeric breakpoints where to detect RNA an antibody was used hybridized to a sequence of DNA was employed. Another method which can determine known genes in one experiment has been designed by the name fusion gene microarray (Skotheim et al., 2013)

In our study, we are going to combine the oligo microarray and the fusion gene microarray to distinguish between the differential diagnostic possibilities and identification of breakpoints between single gene partners in one experiment.

Although these methods have been used separately have yield the required result depending on the specific objectives of the researcher, there is a need to combine the two approaches and spare us the wastage of resources and improve the ability of microarray to detect the gene fusion. Further still for effective therapies for cancer patients in future, discovery of gene fusion in different types of sarcoma is a significant milestone and will lead to the development of much more successful anti-cancer drugs.

This study will be conducted by the laws and regulations of the USA and with 1975 Helsinki Declaration. The study will have to be approved by the Board of Supervisors, and all patients will have to give written consent.

Sarcoma samples from diagnostic laboratories in the USA between 2010 and 2015. All samples will be analyzed for the presence of fusion genes by karyotyping before this study is carried out.

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