Characterization of COL1A1-CTF1 Fusion in Histyocitic Sarcoma – UROP Spring Symposium 2022

Characterization of COL1A1-CTF1 Fusion in Histyocitic Sarcoma

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Clara Bowman

Pronouns: she/her

Research Mentor(s): Dan Robinson
Co-Presenter:
Research Mentor School/College/Department: Pathology – MCTP / Medicine
Presentation Date: April 20
Presentation Type: Poster
Session: Session 1 – 10am – 10:50am
Room: League Ballroom
Authors:
Presenter: 41

Abstract

Sarcomas are cancers beginning in bones or soft tissues with an incidence of approximately 12,000 diagnoses annually. Histiocytic sarcomas are a rare neoplasm of mature histiocytes of which the underlying genetic aberrations are unknown. Through an integrated clinical DNA sequencing program at the University of Michigan an index case of histiocytic sarcoma in a 32 year old male. RNA-Seq analysis revealed a highly expressed in-frame fusion COL1A1-CTF1. The fusion contains the signal peptide of COL1A1 fused to full-length CTF1. COL1A1 is a gene that codes for the pro-alpha1 chain of type 1 collagen and is highly expressed in fibroblasts and other connective tissue cells. CTF1 is a cytokine gene that induces cardiomyocyte hypertrophy and has not been previously identified as an oncogene. We cloned the fusion open reading frame and placed it into a lentiviral expression vector. We then infected mouse embryo fibroblasts and implanted these CTF1 expressing cells into recipient mice.. We characterized the effect of CTF1 expression on cellular signaling pathways such as JAK-STAT activation using Western blotting and reporter gene assays. This mouse model of histiocytic sarcoma provides useful insights into both diagnosis and treatment of this rare cancer.

Presentation link

Biomedical Sciences, Natural/Life Sciences

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