The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing
Fan Yang,1,2,* Song Xu,1,2,* Renwang Liu,1,2 Tao Shi,3 Xiongfei Li,1 Xuebing Li,2 Gang Chen,1 Hongyu Liu,2 Qinghua Zhou,1,2 Jun Chen1,2 1Department of Lung Cancer Surgery, 2Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute, 3Department of Path...
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ftdovepress:oai:dovepress.com/36883 2023-05-15T15:51:06+02:00 The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing Yang,Fan Xu,Song Liu,Renwang Shi,Tao Li,Xiongfei Li,Xuebing Chen,Gang Liu,Hongyu Zhou,Qinghua Chen,Jun 2018-02-21 text/html https://www.dovepress.com/the-investigation-for-potential-modifier-genes-in-patients-with-neurof-peer-reviewed-fulltext-article-OTT en eng Dove Press info:eu-repo/semantics/altIdentifier/doi/10.2147/OTT.S156998 https://www.dovepress.com/the-investigation-for-potential-modifier-genes-in-patients-with-neurof-peer-reviewed-fulltext-article-OTT info:eu-repo/semantics/openAccess OncoTargets and Therapy Original Research info:eu-repo/semantics/article 2018 ftdovepress https://doi.org/10.2147/OTT.S156998 2022-12-27T22:19:43Z Fan Yang,1,2,* Song Xu,1,2,* Renwang Liu,1,2 Tao Shi,3 Xiongfei Li,1 Xuebing Li,2 Gang Chen,1 Hongyu Liu,2 Qinghua Zhou,1,2 Jun Chen1,2 1Department of Lung Cancer Surgery, 2Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute, 3Department of Pathology, Tianjin Medical University General Hospital, Tianjin, People’s Republic of China *These authors contributed equally to this work Introduction: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. Patients and Methods: One proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively. Enhanced Computed tomography (CT) and Positron emission tomography-CT (PET-CT) were taken to collect the radiographic data, and the specimens of this neurofibroma as well as the blood samples from the father and son were sent for panel mutation screening of 295 tumor-related genes based on next-generation screening. Furthermore, the NF1 gene mutations were referred with Canis lupus familiaris, Rattus norvegicus, Gallus gallus, Danio rerio, and Drosophila melanogaster NF1 sequencing for evolutionary conservativeness and then analyzed in Condel databases for pathogenicity prediction. Results: The radiography indicated that the benign plexiform neurofibroma only occurred in the son. Also, TP53, FANCA, BCL6, PIK3C2G, RNF43, FGFR4, FLT3, ERBB2, PAK7, NSD1, MEN1 and TSC1 were uniquely found mutated in the son, which could be candidates as new modifier genes; besides, RNF43 was also mutated in public neurofibroma seuquencing data. By KEGG pathway annotation, phosphoinositide-3-kinase-Akt pathway was altered in both the public plexiform ... Article in Journal/Newspaper Canis lupus Dove Medical Press OncoTargets and Therapy Volume 11 919 932 |
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OncoTargets and Therapy Yang,Fan Xu,Song Liu,Renwang Shi,Tao Li,Xiongfei Li,Xuebing Chen,Gang Liu,Hongyu Zhou,Qinghua Chen,Jun The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
topic_facet |
OncoTargets and Therapy |
description |
Fan Yang,1,2,* Song Xu,1,2,* Renwang Liu,1,2 Tao Shi,3 Xiongfei Li,1 Xuebing Li,2 Gang Chen,1 Hongyu Liu,2 Qinghua Zhou,1,2 Jun Chen1,2 1Department of Lung Cancer Surgery, 2Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute, 3Department of Pathology, Tianjin Medical University General Hospital, Tianjin, People’s Republic of China *These authors contributed equally to this work Introduction: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. Patients and Methods: One proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively. Enhanced Computed tomography (CT) and Positron emission tomography-CT (PET-CT) were taken to collect the radiographic data, and the specimens of this neurofibroma as well as the blood samples from the father and son were sent for panel mutation screening of 295 tumor-related genes based on next-generation screening. Furthermore, the NF1 gene mutations were referred with Canis lupus familiaris, Rattus norvegicus, Gallus gallus, Danio rerio, and Drosophila melanogaster NF1 sequencing for evolutionary conservativeness and then analyzed in Condel databases for pathogenicity prediction. Results: The radiography indicated that the benign plexiform neurofibroma only occurred in the son. Also, TP53, FANCA, BCL6, PIK3C2G, RNF43, FGFR4, FLT3, ERBB2, PAK7, NSD1, MEN1 and TSC1 were uniquely found mutated in the son, which could be candidates as new modifier genes; besides, RNF43 was also mutated in public neurofibroma seuquencing data. By KEGG pathway annotation, phosphoinositide-3-kinase-Akt pathway was altered in both the public plexiform ... |
format |
Article in Journal/Newspaper |
author |
Yang,Fan Xu,Song Liu,Renwang Shi,Tao Li,Xiongfei Li,Xuebing Chen,Gang Liu,Hongyu Zhou,Qinghua Chen,Jun |
author_facet |
Yang,Fan Xu,Song Liu,Renwang Shi,Tao Li,Xiongfei Li,Xuebing Chen,Gang Liu,Hongyu Zhou,Qinghua Chen,Jun |
author_sort |
Yang,Fan |
title |
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
title_short |
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
title_full |
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
title_fullStr |
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
title_full_unstemmed |
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
title_sort |
investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
publisher |
Dove Press |
publishDate |
2018 |
url |
https://www.dovepress.com/the-investigation-for-potential-modifier-genes-in-patients-with-neurof-peer-reviewed-fulltext-article-OTT |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_relation |
info:eu-repo/semantics/altIdentifier/doi/10.2147/OTT.S156998 https://www.dovepress.com/the-investigation-for-potential-modifier-genes-in-patients-with-neurof-peer-reviewed-fulltext-article-OTT |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.2147/OTT.S156998 |
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Volume 11 |
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919 |
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932 |
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