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Atlas of Genetics and Cytogenetics in Oncology and Haematology最新文献

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Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2: Overview 2019 粒细胞/淋巴肿瘤伴嗜酸性粒细胞增多和PDGFRA、PDGFRB或FGFR1重排或PCM1-JAK2:概述2019
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-02-01 DOI: 10.4267/2042/70698
S. Xiao
Review on the group of myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1JAK2 defined by the WHO 2016.
髓系/淋巴系肿瘤伴嗜酸性粒细胞增多和PDGFRA、PDGFRB或FGFR1重排，或伴PCM1JAK2。
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引用次数: 0
X-linked thrombocytopenia (THC1/XLT) x连锁血小板减少症(THC1/XLT)
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-02-01 DOI: 10.4267/2042/70729
Jyoti Kumar
X-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene.
X连锁血小板减少症（XLT）是一种罕见的出血性疾病，其特征是孤立性血小板减少伴小血小板。XLT是Wiskott-Aldrich综合征（WAS）的一种较温和的临床变体，其特征是湿疹、感染易感性和血小板减少症的临床三联征，而XLT患者仅表现为血小板减少症。XLT是由WAS基因突变引起的。
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引用次数: 0
GATA1 (GATA binding protein 1 (globin transcription factor1)) GATA结合蛋白1(珠蛋白转录因子1)
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-02-01 DOI: 10.4267/2042/70724
Winston Y. Lee, O. Weinberg
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引用次数: 0
THBS1 (thrombospondin-1). THBS1（血小板反应蛋白-1）。
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-01-01 DOI: 10.4267/2042/70774
Jeffrey S Isenberg, David D Roberts

Thrombospondins are encoded in vertebrates by a family of 5 THBS genes. THBS1 is infrequently mutated in most cancers, but its expression is positively regulated by several tumor suppressor genes and negatively regulated by activated oncogenes and promoter hypermethylation. Consequently, thrombospondin-1 expression is frequently lost during oncogenesis and is correlated with a poor prognosis for some cancers. Thrombospondin-1 is a secreted protein that acts in the tumor microenvironment to inhibit angiogenesis, regulate antitumor immunity, stimulate tumor cell migration, and regulate the activities of extracellular proteases and growth factors. Differential effects of thrombospondin-1 on the sensitivity of normal versus malignant cells to ischemic and genotoxic stress also regulate the responses to tumors to therapeutic radiation and chemotherapy.

在脊椎动物中，血栓反应蛋白由5个THBS基因家族编码。THBS1在大多数癌症中很少发生突变，但其表达受几种肿瘤抑制基因的正调控，并受激活的癌基因和启动子超甲基化的负调控。因此，血栓反应蛋白-1的表达在肿瘤发生过程中经常丢失，并且与某些癌症的不良预后相关。血小板反应蛋白-1是一种在肿瘤微环境中抑制血管生成、调节抗肿瘤免疫、刺激肿瘤细胞迁移、调节细胞外蛋白酶和生长因子活性的分泌蛋白。血栓反应蛋白-1对正常细胞和恶性细胞对缺血和基因毒性应激敏感性的不同影响也调节肿瘤对治疗性放疗和化疗的反应。
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引用次数: 0
Bone and Soft Tissue: Ewing sarcoma 骨与软组织:尤文氏肉瘤
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-01-01 DOI: 10.4267/2042/70661
Kelly M. Bailey, S. Ranganathan
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引用次数: 1
t(6;11)(q13;q12) EEF1G/OOEP t (6; 11) (q13; q12) EEF1G / OOEP
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-01-01 DOI: 10.4267/2042/70679
Luigi Cristiano
Review on the translocation t(6;11)(q13;q12) EEF1G/OOEP involving EEF1G (alias, eukaryotic translation elongation factor 1 gamma) gene and OOEP (alias, oocyte expressed protein) gene. The novel fusion gene was detected in acute lymphoblastic leukemia/lymphoblastic lymphoma patients but the presence of the correspondent protein is still unknown.
涉及EEF1G(别名，真核翻译延伸因子1 γ)基因和OOEP(别名，卵母细胞表达蛋白)基因易位t(6;11)(q13;q12) EEF1G/OOEP的研究进展。在急性淋巴母细胞白血病/淋巴母细胞淋巴瘤患者中检测到新的融合基因，但相应蛋白的存在尚不清楚。
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引用次数: 0
Langerhans cell histiocytosis 朗格汉斯组织细胞增多症
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-01-01 DOI: 10.4267/2042/70683
Dingbao Chen
Tumours derived from Langerhans cells (LCs) are divided into two main subgroups, according to the degree of cytological atypia and clinical aggressiveness: LC histiocytosis (LCH) and LC sarcoma. Both subgroups maintain the phenotypic profile and ultrastructural features of LCs. LCH is a clonal neoplastic proliferation of Langerhans-type cells that express CD1a, langerin, and S100 protein, showing Birbeck granules by ultrastructural examination. Here the clinicopathological of LCH will be discussed.
根据细胞学非典型性和临床侵袭性的程度，源自朗格汉斯细胞(LCs)的肿瘤分为两个主要亚群:LC组织细胞增生症(LCH)和LC肉瘤。这两个亚群都保持了LCs的表型特征和超微结构特征。LCH是表达CD1a、langerin和S100蛋白的langerhans型细胞的克隆性肿瘤增生，超微结构检查显示Birbeck颗粒。本文将讨论LCH的临床病理。
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引用次数: 0
SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) SOHLH2(精子发生和卵子发生特异性基本螺旋-环-螺旋2)
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-01-01 DOI: 10.4267/2042/70655
Flavia R Mangone, A. C. Pavanelli, M. Nagai
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引用次数: 0
PPP6R3 (protein phosphatase 6 regulatory subunit 3) 蛋白磷酸酶6调控亚基3 (PPP6R3)
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-01-01 DOI: 10.4267/2042/70657
L. Cristiano
{"title":"PPP6R3 (protein phosphatase 6 regulatory subunit 3)","authors":"L. Cristiano","doi":"10.4267/2042/70657","DOIUrl":"https://doi.org/10.4267/2042/70657","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516130","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: 2
OOEP (Oocyte expressed protein) 卵母细胞表达蛋白
Q4 Medicine
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Pub Date : 2020-01-01 DOI: 10.4267/2042/70677
L. Cristiano
Oocyte expressed protein, alias OOEP, is a component of the subcortical maternal complex (SCMC) that play its roles in oocytes and in early stages of embryogenesis. In this review it is done an insight on its DNA, its RNA, its protein encoded and on the diseases where OOEP is involved.
卵母细胞表达蛋白(OOEP)是母细胞皮层下复合体(SCMC)的一个组成部分，在卵母细胞和胚胎发生的早期阶段发挥作用。本文对其DNA、RNA、编码蛋白以及与OOEP有关的疾病进行了综述。
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引用次数: 1
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