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Breast fiber epithelyl tumors, including fibroblastoma (FA) and leafy tumors (PT), are characterized by double proliferation of epithelyl and substrate components.
ISFA is a benign tumor commonly found in young women.
PT is classified as benign, marginal or malignant in histology.
USUALLY recommends the removal of the PT, as it usually grows rapidly and develops viciously.
other types of PT, malignant PT has a higher risk of local recurrence and remote metastasis.
previous studies have shown that FA and PT are often accompanied by mutations in the gene MED12 and mutations in TERTp (telomere reverse transcriptase promoter region).
the study, the researchers compared The effects of TERTp mutations in SANGER sequencing and micro-drip digital PCR (ddPCR) measurements in FA and PT samples.
compared TERTp mutation analysis between ddPCR and Sanger Sequencing collected FA and PT samples from 82 patients who underwent surgery at the University of Tokyo Medical Department Hospital between 2005 and 2016.
the MED12 mutation in all cases and the TERTp mutation in 17 tumors with Sanger sequencing.
TERTp mutations in all cases through ddPCR technology.
TERTp mutation detected by two techniques in this study, a total of 75 samples met the analytical criteria.
Sanger sequencing test results were 19/44 FA (42%) samples and 21/31 PT (68%) samples carrying MED12 mutations.
2/17 (12%) of the 17 Sanger sequencing samples tested positive for the TERTp mutation.
in the ddPCR analysis, the percentage of TERTp mutation positives in PT patients (19/31,61%) was significantly higher than in FA patients (13/44,30%).
neither FA nor PT, TERTp nor MED12 mutation positives were associated.
, the results show that ddPCR analysis is more sensitive to detection of TERTp mutations than Sanger sequencing, and can be used to clarify the tumor occurrence process of FA and PT.
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