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Molecular Analysis of a Recurrent Sarcoma Identifies a Mutation in FAF1
Author
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-20, 20 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-10
Country of Publication
Egypt
No. of Pages
20
Main Subjects
Abstract EN
A patient presented with a recurrent sarcoma (diagnosed as leiomyosarcoma) 12 years after the removal of an initial cancer (diagnosed as extracompartmental osteosarcoma) distally on the same limb.
Following surgery, the sarcoma and unaffected muscle and bone were subjected to measurements of DNA exome sequence, RNA and protein expression, and transcription factor binding.
The investigation provided corroboration of the diagnosis leiomyosarcoma, as the major upregulations in this tumor comprise muscle-specific gene products and calcium-regulating molecules (calcium is an important second messenger in smooth muscle cells).
A likely culprit for the disease is the point mutation S181G in FAF1, which may cause a loss of apoptotic function consecutive to transforming DNA damage.
The RNA levels of genes for drug transport and metabolism were extensively skewed in the tumor tissue as compared to muscle and bone.
The results suggest that the tumor represents a recurrence of a dormant metastasis from an originally misdiagnosed neoplasm.
A loss of FAF1 function could cause constitutive WNT pathway activity (consistent with the downstream inductions of IGF2BP1 and E2F1 in this cancer).
While the study has informed on drug transport and drug metabolism pharmacogenetics, it has fallen short of identifying a suitable target for molecular therapy.
American Psychological Association (APA)
Weber, Georg F.. 2015. Molecular Analysis of a Recurrent Sarcoma Identifies a Mutation in FAF1. Complexity،Vol. 2015, no. 2015, pp.1-20.
https://search.emarefa.net/detail/BIM-1076104
Modern Language Association (MLA)
Weber, Georg F.. Molecular Analysis of a Recurrent Sarcoma Identifies a Mutation in FAF1. Complexity No. 2015 (2015), pp.1-20.
https://search.emarefa.net/detail/BIM-1076104
American Medical Association (AMA)
Weber, Georg F.. Molecular Analysis of a Recurrent Sarcoma Identifies a Mutation in FAF1. Complexity. 2015. Vol. 2015, no. 2015, pp.1-20.
https://search.emarefa.net/detail/BIM-1076104
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1076104