Oncogenic PIK3CA Mutation and Dysregulation in Human Salivary Duct Carcinoma
Salivary duct carcinoma (SDC) is an aggressive malignant tumor with a high mortality, which resembles high-grade breast ductal carcinoma in morphology. The parotid gland is the most common location. Its molecular genetic characteristics remain largely unknown. We have previously reported high incide...
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| creator | Qiu, Wanglong Tong, Guo-Xia Turk, Andrew T. Close, Lanny G. Caruana, Salvatore M. Su, Gloria H. |
| description | Salivary duct carcinoma (SDC) is an aggressive malignant tumor with a high mortality, which resembles high-grade breast ductal carcinoma in morphology. The parotid gland is the most common location. Its molecular genetic characteristics remain largely unknown. We have previously reported high incidence of PIK3CA somatic mutations in head and neck squamous cell carcinoma, particularly in pharyngeal cancers. Here we examined the PIK3CA gene expression status and hotspot mutations in six cases of SDC by immunohistochemistry and genomic DNA sequencing. Immunohistochemistry showed that PIK3CA expression was elevated in all six patients with SDC. By DNA sequencing, two hotspot mutations of the PIK3CA gene, E545K (exon 9) and H1047R (exon 20), were identified in two of the six cases. Our results support that oncogenic PIK3CA is upregulated and frequently mutated in human SDC, adding evidence that PIK3CA oncogenic pathway is critical in the tumorigenesis of SDC, and may be a plausible drug target for this rare disease. |
| doi_str_mv | 10.1155/2014/810487 |
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The parotid gland is the most common location. Its molecular genetic characteristics remain largely unknown. We have previously reported high incidence of PIK3CA somatic mutations in head and neck squamous cell carcinoma, particularly in pharyngeal cancers. Here we examined the PIK3CA gene expression status and hotspot mutations in six cases of SDC by immunohistochemistry and genomic DNA sequencing. Immunohistochemistry showed that PIK3CA expression was elevated in all six patients with SDC. By DNA sequencing, two hotspot mutations of the PIK3CA gene, E545K (exon 9) and H1047R (exon 20), were identified in two of the six cases. Our results support that oncogenic PIK3CA is upregulated and frequently mutated in human SDC, adding evidence that PIK3CA oncogenic pathway is critical in the tumorigenesis of SDC, and may be a plausible drug target for this rare disease.</description><identifier>ISSN: 2314-6133</identifier><identifier>EISSN: 2314-6141</identifier><identifier>DOI: 10.1155/2014/810487</identifier><identifier>PMID: 24511546</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Puplishing Corporation</publisher><subject>Aged ; Cancer ; Cancer therapies ; Carcinoma ; Carcinoma - genetics ; Chemotherapy ; Class I Phosphatidylinositol 3-Kinases ; Deoxyribonucleic acid ; DNA ; Female ; Gene amplification ; Gene mutations ; Genetic aspects ; Health Insurance Portability & Accountability Act 1996-US ; Humans ; Identification and classification ; Kinases ; Male ; Medical prognosis ; Middle Aged ; Mortality ; Mutation ; Mutation - genetics ; Patients ; Phosphatidylinositol 3-Kinases - genetics ; Radiation therapy ; Salivary Gland Neoplasms - genetics ; Salivary gland tumors ; Studies ; Surgery ; Tumors</subject><ispartof>BioMed research international, 2014-01, Vol.2014 (2014), p.1-7</ispartof><rights>Copyright © 2014 Wanglong Qiu et al.</rights><rights>COPYRIGHT 2014 John Wiley & Sons, Inc.</rights><rights>Copyright © 2014 Wanglong Qiu et al. Wanglong Qiu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</rights><rights>Copyright © 2014 Wanglong Qiu et al. 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c490t-213a0636ab110095a6f80b5cc4f31b97ef853b46a0e0c17dd7227509552f933a3</citedby><cites>FETCH-LOGICAL-c490t-213a0636ab110095a6f80b5cc4f31b97ef853b46a0e0c17dd7227509552f933a3</cites><orcidid>0000-0003-2878-1251</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910486/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910486/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24511546$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Gabelli, Sandra B.</contributor><creatorcontrib>Qiu, Wanglong</creatorcontrib><creatorcontrib>Tong, Guo-Xia</creatorcontrib><creatorcontrib>Turk, Andrew T.</creatorcontrib><creatorcontrib>Close, Lanny G.</creatorcontrib><creatorcontrib>Caruana, Salvatore M.</creatorcontrib><creatorcontrib>Su, Gloria H.</creatorcontrib><title>Oncogenic PIK3CA Mutation and Dysregulation in Human Salivary Duct Carcinoma</title><title>BioMed research international</title><addtitle>Biomed Res Int</addtitle><description>Salivary duct carcinoma (SDC) is an aggressive malignant tumor with a high mortality, which resembles high-grade breast ductal carcinoma in morphology. The parotid gland is the most common location. Its molecular genetic characteristics remain largely unknown. We have previously reported high incidence of PIK3CA somatic mutations in head and neck squamous cell carcinoma, particularly in pharyngeal cancers. Here we examined the PIK3CA gene expression status and hotspot mutations in six cases of SDC by immunohistochemistry and genomic DNA sequencing. Immunohistochemistry showed that PIK3CA expression was elevated in all six patients with SDC. By DNA sequencing, two hotspot mutations of the PIK3CA gene, E545K (exon 9) and H1047R (exon 20), were identified in two of the six cases. Our results support that oncogenic PIK3CA is upregulated and frequently mutated in human SDC, adding evidence that PIK3CA oncogenic pathway is critical in the tumorigenesis of SDC, and may be a plausible drug target for this rare disease.</description><subject>Aged</subject><subject>Cancer</subject><subject>Cancer therapies</subject><subject>Carcinoma</subject><subject>Carcinoma - genetics</subject><subject>Chemotherapy</subject><subject>Class I Phosphatidylinositol 3-Kinases</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Female</subject><subject>Gene amplification</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Health Insurance Portability & Accountability Act 1996-US</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Kinases</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Middle Aged</subject><subject>Mortality</subject><subject>Mutation</subject><subject>Mutation - 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Academic</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>BioMed research international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Qiu, Wanglong</au><au>Tong, Guo-Xia</au><au>Turk, Andrew T.</au><au>Close, Lanny G.</au><au>Caruana, Salvatore M.</au><au>Su, Gloria H.</au><au>Gabelli, Sandra B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Oncogenic PIK3CA Mutation and Dysregulation in Human Salivary Duct Carcinoma</atitle><jtitle>BioMed research international</jtitle><addtitle>Biomed Res Int</addtitle><date>2014-01-01</date><risdate>2014</risdate><volume>2014</volume><issue>2014</issue><spage>1</spage><epage>7</epage><pages>1-7</pages><issn>2314-6133</issn><eissn>2314-6141</eissn><abstract>Salivary duct carcinoma (SDC) is an aggressive malignant tumor with a high mortality, which resembles high-grade breast ductal carcinoma in morphology. The parotid gland is the most common location. Its molecular genetic characteristics remain largely unknown. We have previously reported high incidence of PIK3CA somatic mutations in head and neck squamous cell carcinoma, particularly in pharyngeal cancers. Here we examined the PIK3CA gene expression status and hotspot mutations in six cases of SDC by immunohistochemistry and genomic DNA sequencing. Immunohistochemistry showed that PIK3CA expression was elevated in all six patients with SDC. By DNA sequencing, two hotspot mutations of the PIK3CA gene, E545K (exon 9) and H1047R (exon 20), were identified in two of the six cases. Our results support that oncogenic PIK3CA is upregulated and frequently mutated in human SDC, adding evidence that PIK3CA oncogenic pathway is critical in the tumorigenesis of SDC, and may be a plausible drug target for this rare disease.</abstract><cop>Cairo, Egypt</cop><pub>Hindawi Puplishing Corporation</pub><pmid>24511546</pmid><doi>10.1155/2014/810487</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0003-2878-1251</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Aged Cancer Cancer therapies Carcinoma Carcinoma - genetics Chemotherapy Class I Phosphatidylinositol 3-Kinases Deoxyribonucleic acid DNA Female Gene amplification Gene mutations Genetic aspects Health Insurance Portability & Accountability Act 1996-US Humans Identification and classification Kinases Male Medical prognosis Middle Aged Mortality Mutation Mutation - genetics Patients Phosphatidylinositol 3-Kinases - genetics Radiation therapy Salivary Gland Neoplasms - genetics Salivary gland tumors Studies Surgery Tumors |
| title | Oncogenic PIK3CA Mutation and Dysregulation in Human Salivary Duct Carcinoma |
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