Identification and Validation of Key Genes in Giant Congenital Melanocytic Nevi by RNA Sequencing Analysis

Author(s):  
Xialin Cheng ◽  
Tao Dai ◽  
Wu Bao ◽  
Lingxi Chen ◽  
Zexin Zhang ◽  
...  

Abstract Background Giant congenital melanocytic nevi (GCMNs) are melanotic lesion present at birth, which often cause severe psychological and financial burden to patients and their families.However, the pathogenes is still unclear. Objective We aim to identify key genes and biological processes that related to the development of GCMN. Methods We sequenced ten pairs of GCMN tissues and adjacent normal tissues by high-throughput RNA-seq, then used GO and KEGG analysis to find inportment pathways, and used MCODE,Cluego and Cytohubba plugin of Cytoscape software to identify hub genes. Results A total of 1163 differentially expressed genes were identified. 29 BPs, 18 CCs, and 17 MFs were significantly enriched in GO analysis and no pathway was significantly enriched in KEGG analysis. PPI Visual Network consisted of 779 nodes and 2359 edges,which was be divided into 25 functional modules by MCODE. We discovered most of the hub genes were located in module 5,and the top 3 hub genes (PTGS2,EGF,SOX10) in module 5 were involved in GO and KEGG enrichment pathways --“Arachidonic acid metabolism”,”glycosaminoglycan biosynthetic process”,”developmental pigmentation” respectively. Conclusion PTGS2, EGF and SOX10 are thought to be the three most important hub genes and may play essential roles in the development of GCMN.

2020 ◽  
Vol 83 (1) ◽  
pp. 222-224
Author(s):  
Alejandra Tomás-Velázquez ◽  
Juan Carlos López-Gutiérrez ◽  
Carmen Ceballos ◽  
Jorge M. Núñez-Córdoba ◽  
Pedro Redondo

2008 ◽  
Vol 47 (8) ◽  
pp. 824-826 ◽  
Author(s):  
Ahdi Amer ◽  
Howard Fischer

2011 ◽  
Vol 3 (2) ◽  
pp. 69-76
Author(s):  
Vesna Mikulić

Abstract Giant congenital melanocytic nevi are benign nevomelanocytic proliferations of 20 cm or more in diameter, present at birth. They are primarily found on the posterior trunk, but they may arise on any other part of the body, covering more than 2% of the body surface. Giant congenital nevi are major risk factors for the development of melanoma, and the risk has been estimated to be as high as 5-7%. Persons with giant congenital melanocytic nevi on the head, neck and along the midline of the back are at increased risk for leptomeningeal melanocytic lesions. Most patients with neurocutaneous melanosis present with neurologic manifestations of the disease in the first 2 years of life. Melanoma occurs in 62-80% of cases, but even without neoplasms, symptomatic neurocutaneous melanosis has a poor prognosis. This is a report of a 23-year-old female patient who presented with multiple congenital pigmented and pilous nevi covering over 2% of her total body surface, without malignant alterations or association with other abnormalities. At birth, a nevus covered her neck, shoulders and the upper left arm, whereas several nevi over 5cm in diameter were present in the gluteal region, on the abdomen and legs. During the first 2 years of life, the existing nevi increased in size and progressed into darker brown. New, smaller pigmented changes appeared on the whole body and the face, while at the age of 17 they reached their current size and layout. At puberty, nevi over 10cm in size grew dark hairs. There were neither melanoma nor skin tumor cases in the family. Nuclear magnetic resonance imaging was not performed in the childhood or later in life, but other parameters - neurologic and ophthalmologic findings were in normal range all the time, as was growth and development. A complete photo-documentation was made, including macroscopic and dermoscopic images and regular follow-ups continue. Giant congenital melanocytic nevi may cause considerable esthetic and psychosocial problems. Due to their high malignant potential, association with other abnormalities, no consensus on the treatment, and monitoring problems, giant congenital melanocytic nevi represent a therapeutic problem as well.


2016 ◽  
Vol 14 (01) ◽  
pp. 047-050
Author(s):  
Shaukat Ali ◽  
Saifullah Khalid ◽  
Kashif Azmi ◽  
Murad Ahmad ◽  
Shaad Abqari

2015 ◽  
Vol 42 (11) ◽  
pp. 832-839 ◽  
Author(s):  
Anneli R. Bowen ◽  
Keith L. Duffy ◽  
Frederic C. Clayton ◽  
Robert H.I. Andtbacka ◽  
Scott R. Florell

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