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CD47 (Cluster of Differentiation 47). CD47 (Cluster of Differentiation 47)。
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2021-01-01
Sukhbir Kaur, Jeffrey S Isenberg, David D Roberts
{"title":"CD47 (Cluster of Differentiation 47).","authors":"Sukhbir Kaur,&nbsp;Jeffrey S Isenberg,&nbsp;David D Roberts","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>CD47, also known as integrin-associated protein, is a constitutively and ubiquitously expressed transmembrane receptor. CD47 is conserved across amniotes including mammals, reptiles, and birds. Expression is increased in many cancers and, in non-malignant cells, by stress and with aging. The up-regulation of CD47 expression is generally epigenetic, whereas gene amplification occurs with low frequency in some cancers. CD47 is a high affinity signaling receptor for the secreted protein thrombospondin-1 (THBS1) and the counter-receptor for signal regulatory protein-α (SIRPA, SIRPα) and SIRPγ (SIRPG). CD47 interaction with SIRPα serves as a marker of self to innate immune cells and thereby protects cancer cells from phagocytic clearance. Consequently, higher CD47 correlates with a poor prognosis in some cancers, and therapeutic blockade can suppress tumor growth by enhancing innate antitumor immunity. CD47 expressed on cytotoxic T cells, dendritic cells, and NK cells mediates inhibitory THBS1 signaling that further limits antitumor immunity. CD47 laterally associates with several integrins and thereby regulates cell adhesion and migration. CD47 has additional lateral binding partners in specific cell types, and ligation of CD47 in some cases modulates their function. THBS1-CD47 signaling in non-malignant cells inhibits nitric oxide/cGMP, calcium, and VEGF signaling, mitochondrial homeostasis, stem cell maintenance, protective autophagy, and DNA damage response, and promotes NADPH oxidase activity. CD47 signaling is a physiological regulator of platelet activation, angiogenesis and blood flow. THBS1/CD47 signaling is frequently dysregulated in chronic diseases.</p>","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8547767/pdf/nihms-1651955.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39567120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nervous system: Embryonal tumors: Neuroblastoma. 神经系统:胚胎性肿瘤;神经母细胞瘤。
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-07-01 DOI: 10.4267/2042/70771
Caileigh Pudela, Skye Balyasny, Mark A Applebaum
{"title":"Nervous system: Embryonal tumors: Neuroblastoma.","authors":"Caileigh Pudela,&nbsp;Skye Balyasny,&nbsp;Mark A Applebaum","doi":"10.4267/2042/70771","DOIUrl":"https://doi.org/10.4267/2042/70771","url":null,"abstract":"<p><p>Neuroblastoma is a clinically heterogenous pediatric cancer of the sympathetic nervous system that originates from neural crest cells. It is the most common extracranial solid tumor in childhood and prognosis ranges from spontaneous tumor regression to aggressive disease resistant to multimodal therapy. Prognosis depends on patient characteristics and tumor biology that determine risk classification. Advancements in therapy reductions are merited for low- and intermediate-risk neuroblastoma patients, who generally have excellent outcomes. Of the patients with high-risk disease, only 50% achieve long-term survival, and therapeutic advancements are needed. Over the past several decades, genomic features such as germline mutations, somatic genetic aberrations, chromosome copy number, transcriptomics, and epigenetics have proven to contribute to the pathogenesis of neuroblastoma. The primary predisposition genes in familial neuroblastoma are <i>ALK</i> and <i>PHOX2B</i>. Sporadic neuroblastoma arises with complex pathogenesis, but chromosomal abnormalities and single-nucleotide polymorphisms have been identified to cooperatively lead to oncogenesis. These advances have led to new therapeutic approaches with the potential to improve outcomes for children with neuroblastoma.</p>","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158874/pdf/nihms-1057460.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37839320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 18
RARA (Retinoic acid receptor, alpha) RARA（维甲酸受体，α）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70859
F. Vigué
{"title":"RARA (Retinoic acid receptor, alpha)","authors":"F. Vigué","doi":"10.4267/2042/70859","DOIUrl":"https://doi.org/10.4267/2042/70859","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43535889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TNIK (TRAF2 and NCK interacting kinase) TNIK (TRAF2和NCK相互作用激酶)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70860
A. Cassaro
{"title":"TNIK (TRAF2 and NCK interacting kinase)","authors":"A. Cassaro","doi":"10.4267/2042/70860","DOIUrl":"https://doi.org/10.4267/2042/70860","url":null,"abstract":"The serine/threonine kinase Traf2and Nck interacting kinase (TNIK), is a member of the germinal center kinase (GCK) family that has been reported to have an important role in the regulation of Jun N-terminal kinase pathway (JNK) activation and actin cytoskeleton. It has also been demonstrated that TNIK is an important activator of Wnt pathway, where it interacts with β-catenin/TCF4 complex, phosphorylates TCF4 inducing the transcription of Wnt target genes. In several studies, the expression of TNIK has been established to be involved in different human cancers.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44278846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CD22 (CD22 molecule) CD22 (CD22分子)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70879
Barnabas Nyesiga, Z. El-Schich
{"title":"CD22 (CD22 molecule)","authors":"Barnabas Nyesiga, Z. El-Schich","doi":"10.4267/2042/70879","DOIUrl":"https://doi.org/10.4267/2042/70879","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41425754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) EEF1E1（真核翻译延伸因子1ε1）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70858
L. Cristiano
{"title":"EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1)","authors":"L. Cristiano","doi":"10.4267/2042/70858","DOIUrl":"https://doi.org/10.4267/2042/70858","url":null,"abstract":"Eukaryotic translation elongation factor 1 epsilon 1, alias EEF1E1, is a protein-coding gene that plays a role in the elongation step of translation. In particular, it is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex (MARS). Its expression is found frequently altered in human cancer cells and it is considered a putative tumor suppressor gene. This review collects the data on DNA/RNA, the protein encoded and the diseases where EEF1E1 is involved.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49449576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
APC-associated polyposis conditions APC相关息肉病
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70880
M. T. Ricci
{"title":"APC-associated polyposis conditions","authors":"M. T. Ricci","doi":"10.4267/2042/70880","DOIUrl":"https://doi.org/10.4267/2042/70880","url":null,"abstract":"APC-associated polyposis conditions result from a constitutional heterozygous pathogenic variant in the APC gene. These conditions include three main clinical phenotypes: the familial adenomatous polyposis (FAP), the attenuated FAP (AFAP) and the gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). This phenotypic variability corresponds to the differences in the location of the pathogenic variant within the APC gene, even though variations among the individuals and within the families with the identical APC pathogenic variant may occur. Colorectal screening should begin from age 10 to 12 years in FAP and in late teens in AFAP, or earlier if there are gastrointestinal symptoms; the timing of surgery and the extent of resection should be determined on the basis of patient's personal history. Esophagogastroduodenoscopy is recommended by age 20-30 years or prior to colon surgery. Data to support screening for other cancers and manifestations associated with FAP are limited. The efficacy of the screening for gastric cancer and of prophylactic gastrectomy for patients with GAPPS is currently unknown.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47603160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
XIAP (X-linked inhibitor of apoptosis) XIAP（X-连锁细胞凋亡抑制剂）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70862
Catarina Sofia Reis Silva, G. H. Barbosa, P. Branco, P. Jimenez, J. Machado-Neto, L. Costa-Lotufo
{"title":"XIAP (X-linked inhibitor of apoptosis)","authors":"Catarina Sofia Reis Silva, G. H. Barbosa, P. Branco, P. Jimenez, J. Machado-Neto, L. Costa-Lotufo","doi":"10.4267/2042/70862","DOIUrl":"https://doi.org/10.4267/2042/70862","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46987409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
BCL2L15 (BCL2-like 15) BCL2L15 (BCL2-like 15)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70876
P. Artemaki, M. Pavlou, C. Kontos
{"title":"BCL2L15 (BCL2-like 15)","authors":"P. Artemaki, M. Pavlou, C. Kontos","doi":"10.4267/2042/70876","DOIUrl":"https://doi.org/10.4267/2042/70876","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49051976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A2M (alpha-2-macroglobulin) A2M（α-2-巨球蛋白）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-06-01 DOI: 10.4267/2042/70878
R. Gurbanov, Gizem Samgane
{"title":"A2M (alpha-2-macroglobulin)","authors":"R. Gurbanov, Gizem Samgane","doi":"10.4267/2042/70878","DOIUrl":"https://doi.org/10.4267/2042/70878","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45387592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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