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Updated: Jun 21, 2026

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
Published on: August 23, 2024
[Mutation and abnormal expression of FHIT gene in hypopharyngeal carcinoma]
Hao Wu1, Xinyong Luan, Xinliang Pan
1Department of Otolaryngology Head and Neck Surgery, Affiliated Hospital of Nantong University, Nantong, 226001, China. entwuhao@163.com
Objective:
To analyze the mutation and abnormal expression of the FHIT gene in human hypopharyngeal carcinoma.
Method:
Matched normal and cancerous tissues from 24 patients with hypopharyngeal squamous cell carcinoma were obtained immediately after surgery. Total RNA was extracted, the FHIT gene was detected by nested RT-PCR and DNA sequencing technology.
Result:
Normal sized FHIT transcript was detected in 23 of the 24 cases of normal matched tissues. Aberrant FHIT transcripts were found in 9/24 (37.5%) cases in hypopharyngeal carcinoma. Aberrant FHIT transcripts rate of well-differentiated, moderately differentiated and poorly differentiated squamous cell carcinoma, was 28.6% (2/7), 50.0% (4/8) and 33.3% (3/9), respectively. There the carcinoma with FHIT aberrant transcripts was neither corresponding to histological grade (P>0.05) nor to lymphatic metastasis. The sequence analyses of the two aberrant cDNAs revealed absence of exon 8 and exon 7-9. All initial deletion were in conjunction of exons.
Conclusion:
High deletion rate of the FHIT gene in Chinese hypopharyngeal squamous cell carcinoma suggested the FHIT gene, a candidate tumor suppressor gene at 3p14.2, plays an important role in the tumor carcinogenesis, development and progression of the tumor, and thus may become a new prognostic marker in hypopharyngeal carcinoma.
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