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Analysis of SDHB、SDHC and SDHD Gene Mutations in Head-and-neck Paragangliomas

Author: LinLin
Tutor: GaoMing
School: Tianjin Medical University
Course: Oncology
Keywords: Paraganglioma Succinate dehydrogenase SDH Gene mutation Carotid body tumor Mitochondria
CLC: R739.91
Type: Master's thesis
Year: 2011
Downloads: 16
Quote: 1
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Abstract


The purpose of a preliminary understanding of the people and neck paraganglioma (paraganglioma, PGL) patients (succinate dehydrogenase, SDH) succinate dehydrogenase subunit SDHB, SDHC and SDHD gene mutations, mutation rate and clinical phenotype relationship, provide a basis for the PGL-depth study of the molecular diagnostics and molecular genetics, which provide a theoretical basis for early diagnosis and early treatment. Our group cases admitted for Tianjin Tumor Hospital, from April 2006 to January 2011 with a complete clinical and pathological data of 24 patients with sporadic paraganglioma patients with peripheral blood and (or) a total of 34 cases of tumor tissue samples. Specimens from 48 cases of normal human peripheral blood specimens as controls. Peripheral blood leukocyte genomic DNA using TKM method to extract tumor cell genomic DNA using blood / cell / tissue genomic DNA extract kit extracted PCR method amplified SDHB, SDHC, SDHD gene each outer remarkable child, purified and direct determination of the DNA sequence, blast and sequencing results published on the website of the American Center for Biotechnology Information (NCBI) standard nucleotide sequence alignment analysis. 1, 2 patients in the group on the 24 cases of sporadic cases of paraganglioma discovered the SDHD gene exon nonsense mutation occurs, namely c.112C gt; T lead to the 38th codon from CGA becomes TGA (R38X). One of the patients were female, the age of onset is 29 years old, no abnormal clinical manifestations, pathological type as benign. The other patients were male, age of onset was 27 years old, have no obvious clinical manifestations, pathology shows: paraganglioma, infringement of a small blood vessel wall and the surrounding fibrous tissue and see duct tumor thrombus, vicious tendencies. 2, in the group on the 24 cases of sporadic cases of paraganglioma patients found the SDHD gene exon missense mutations c.311A gt; C codon of section 104 of the change by the CAC CCC (H104P). The patients were male, and the age of onset is 22 years old, the clinical manifestations hoarseness, pathological types of benign left submandibular vein tumor thrombus. 3, 2 patients in the group on the 24 cases of sporadic cases of paraganglioma discovery of SDHB gene exon the synonymous mutations c.18C gt; A caused by codon 6 change by GCC GCA (A6A). Patients were male, age of onset is 17 years old, the clinical manifestations of hoarseness, mouth askew, eyelid elevation Restricted, pathology of malignant the recidivism nerve. The other patients were female, the age of onset is 30 years old, no obvious abnormality clinical manifestations, pathology of malignant the recidivism nerve. 4 in our group study of 24 cases of sporadic cases of paraganglioma patients found that the SDHB gene sixth exon missense mutations c.594C gt; A cause of codon 198 changed by AGC AGA (S198R). The male patient, age of onset is 58 years old, clinical manifestations of hoarseness, pathological types of benign violations of the capsule. 5, SDHC gene mutations were not found in our group of 24 patients with sporadic cases of paraganglioma. Conclusion 1, our group 25.O% (6/24) of sporadic paraganglioma cases carry SDH gene mutations, including the SDHB 3 cases, SDHD 3, both the detection rate of 12.5%. Have not found the the SDHC gene mutation, the gene mutation in paraganglioma lower incidence. Our group study of 21 cases of benign, 4 patients carrying SDH gene mutations, accounting for 19.1% of SDHB1 cases (4.8%), respectively, SDHD3 cases (14.3%). SDHD gene mutation associated with the incidence of benign paraganglioma. SDHB gene mutation occurred in the sixth outside exon missense mutations S198R. SDHD gene mutation in two cases occurred in the second exon nonsense mutation R38X H104P missense mutation of the cases occurred in the third outside exons. Not yet reported in the literature the H104P mutant forms, suggesting that it may for a new type of mutation found. 3 cases of evil in our group of three cases, the patients carrying SDH gene mutations, 66.7% were SDHB first exon of synonymous mutations A6A, prompts the A6A may affect the phenotype of paraganglioma . SDHB gene mutations and the incidence of malignant paraganglioma. 4, our group of four cases to carry SDH gene mutations in healthy patients, 3 patients the tumor showed local invasion (including violations of the surrounding fibrous tissue and peripheral vascular tissue), suggesting SDH gene mutation may influence the biology of the tumor behavior. 5 compatriots early age of onset and pathology of malignant or paraganglioma cases showed aggressive behavior SDHB, SDHC, SDHD gene detection significance.

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CLC: > Medicine, health > Oncology > Other parts of the tumor > Head, neck, shoulder tumor
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