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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ftdoajarticles:oai:doaj.org/article:746ce009c0a3474dab52ca05871d5a20 2023-05-15T15:51:15+02:00 The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing Yang F Xu S Liu RW Shi T Li XF Li XB Chen G Liu HY Zhou QH Chen J 2018-02-01T00:00:00Z https://doaj.org/article/746ce009c0a3474dab52ca05871d5a20 EN eng Dove Medical Press https://www.dovepress.com/the-investigation-for-potential-modifier-genes-in-patients-with-neurof-peer-reviewed-article-OTT https://doaj.org/toc/1178-6930 1178-6930 https://doaj.org/article/746ce009c0a3474dab52ca05871d5a20 OncoTargets and Therapy, Vol Volume 11, Pp 919-932 (2018) Plexiform Neurofibroma Type 1 Mutation Modifier Gene Next-Generation-Sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 article 2018 ftdoajarticles 2023-01-08T01:38:58Z 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 Directory of Open Access Journals: DOAJ Articles |
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Directory of Open Access Journals: DOAJ Articles |
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ftdoajarticles |
language |
English |
topic |
Plexiform Neurofibroma Type 1 Mutation Modifier Gene Next-Generation-Sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
spellingShingle |
Plexiform Neurofibroma Type 1 Mutation Modifier Gene Next-Generation-Sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Yang F Xu S Liu RW Shi T Li XF Li XB Chen G Liu HY Zhou QH Chen J The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing |
topic_facet |
Plexiform Neurofibroma Type 1 Mutation Modifier Gene Next-Generation-Sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
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 F Xu S Liu RW Shi T Li XF Li XB Chen G Liu HY Zhou QH Chen J |
author_facet |
Yang F Xu S Liu RW Shi T Li XF Li XB Chen G Liu HY Zhou QH Chen J |
author_sort |
Yang F |
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 Medical Press |
publishDate |
2018 |
url |
https://doaj.org/article/746ce009c0a3474dab52ca05871d5a20 |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_source |
OncoTargets and Therapy, Vol Volume 11, Pp 919-932 (2018) |
op_relation |
https://www.dovepress.com/the-investigation-for-potential-modifier-genes-in-patients-with-neurof-peer-reviewed-article-OTT https://doaj.org/toc/1178-6930 1178-6930 https://doaj.org/article/746ce009c0a3474dab52ca05871d5a20 |
_version_ |
1766386368955547648 |