PMID- 15127561 OWN - NLM STAT- MEDLINE DCOM- 20040727 LR - 20161124 IS - 0412-3948 (Print) IS - 0412-3948 (Linking) VI - 39 IP - 1 DP - 2004 Jan TI - [Detection of mutation in exon 5 and exon 8 of PTEN in laryngeal squamous cell carcinoma]. PG - 13-6 AB - OBJECTIVE: To detect mutations of exon 5 and exon 8 of phosphatase and tensin homology deleted on chromosome10/mutated in multiple advanced cancer1/TGF-beta regulated and epithelial cell-enriched phosphatase (PTEN/MMAC1/TEP1 for short PTEN) gene in laryngeal squamous cell carcinoma (LSCC) and analyze the relationship between the mutation and LSCC. METHODS: Fresh tumor samples from 40 LSCC patients were examined using polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and direct DNA sequencing. RESULTS: The mutation of exon 5 and exon 8 occurred in supra-glottic laryngeal carcinoma and no mutation in the glottic laryngeal carcinoma was found. There were 6 cases of mutation for exon 5, and the mutation rate was 15%. In 2 cases, 1 base pair insertion TT-->TAT in codon 85, while in other two cases, 1 base pair deletion GCA-->GC in codon 86, and the two type mutation may result in frame shift mutation. One case had the above two type mutation simultaneously, which may result in missense mutation; 1 case had 1 base pair insertion TT-->TAT in 85 codon and 1 base pair deletion GCA-->GA, which may result in nonsense mutation. The pathology of 3/6 (50%) cases was low differentiation, and the others (3/6, 50%) were middle differentiation. Five cases had lymphatic metastasis, and the rate of which was 83.3%; the other one had no lymphatic metastasis, and the rate of which was 16.7%. There was only 1 case mutation for exon 8, and the mutation rate was 2.5%. One base pair deletion AAA-->AA in 276 codon as well as 1 base pair insertion CT-->CCT between the 336 codon and 337 codon may result in frame shift mutation. The pathology of the case was low differentiation. CONCLUSION: The codon 85,86 of PTEN gene in exon 5 may be "hot spots" in LSCC and the mutation of PTEN gene may be related with the lymphatic metastasis and middle or low differentiation. FAU - Bai, Wei-liang AU - Bai WL AD - Department of Otorhinolaryngology, Second Affiliated Hospital of China Medical University, Shenyang 110004, China. baiweiliang@hotmail.com FAU - Gao, Hong AU - Gao H FAU - Ren, Zhong AU - Ren Z FAU - Pan, Zi-min AU - Pan ZM LA - chi PT - Journal Article PL - China TA - Zhonghua Er Bi Yan Hou Ke Za Zhi JT - Zhonghua er bi yan hou ke za zhi JID - 16210350R RN - 0 (DNA, Neoplasm) RN - EC 3.1.3.2 (Phosphoric Monoester Hydrolases) RN - EC 3.1.3.48 (Protein Tyrosine Phosphatases) SB - IM MH - Adult MH - Aged MH - Base Sequence MH - Carcinoma, Squamous Cell/*genetics MH - Chromosomes, Human, Pair 10 MH - DNA Mutational Analysis MH - DNA, Neoplasm/analysis MH - Exons/genetics MH - Female MH - Genes, Tumor Suppressor MH - Humans MH - Laryngeal Neoplasms/*genetics MH - Male MH - Middle Aged MH - Molecular Sequence Data MH - Phosphoric Monoester Hydrolases/genetics MH - *Point Mutation MH - Polymorphism, Single-Stranded Conformational MH - Protein Tyrosine Phosphatases/*genetics EDAT- 2004/05/07 05:00 MHDA- 2004/07/28 05:00 CRDT- 2004/05/07 05:00 PHST- 2004/05/07 05:00 [pubmed] PHST- 2004/07/28 05:00 [medline] PHST- 2004/05/07 05:00 [entrez] PST - ppublish SO - Zhonghua Er Bi Yan Hou Ke Za Zhi. 2004 Jan;39(1):13-6.