Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion [0.03%]
具有ZFP64::NCOA2融合的前列腺肌上皮性横纹肌肉瘤
Azfar Neyaz,Alessandro Furlan,Arivarasan Karunamurthy et al.
Azfar Neyaz et al.
Kristin Andersen,Geir E Tjønnfjord,L Frode Ramslien et al.
Kristin Andersen et al.
RUNX1 fuses with over 70 different partner genes in hematological neoplasms. While common RUNX1 chimeras have been extensively studied and their prognosis is well established, our current understanding of less common RUNX1 chimeras is limit...
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer [0.03%]
南非乳腺癌人群中的基因突变流行率及再分类
Tabitha S Osler,Jean-Tristan Brandenburg,Mardelle Schoeman et al.
Tabitha S Osler et al.
Concurrent testing of numerous genes for hereditary breast cancer (BC) is available but can result in management difficulties. We evaluated use of an expanded BC gene panel in women of diverse South African ancestries and assessed use of Af...
17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas [0.03%]
17P13（TP53）基因缺失与尿路上皮膀胱癌的侵袭性表型相关但与患者的预后无关
Martina Kluth,Melanie Hitzschke,Kira Furlano et al.
Martina Kluth et al.
17p13 deletions including TP53 and other genes represent a common cause for reduced/lost p53 function in tumor cells. In this study, we analyzed the impact of 17p13 (TP53) deletions and p53 expression on tumor aggressiveness and patient pro...
Diagnostic and Therapeutic Implications of a FUS::TFCP2 Fusion and ALK Activation in a Metastatic Rhabdomyosarcoma [0.03%]
FUS::TFCP2融合和ALK活化在继发性横纹肌肉瘤中的诊断及治疗意义
Veronika Csizmok,Cameron J Grisdale,Laura M Williamson et al.
Veronika Csizmok et al.
The identification of gene fusions in rare sarcoma subtypes can have diagnostic, prognostic, and therapeutic impacts for advanced cancer patients. Here, we present a case of a 31-year-old male with a lytic lesion of the left mandible initia...
Comprehensive Analysis of Juvenile Nasopharyngeal Angiofibromas via Whole-Exome Sequencing [0.03%]
全外显子组测序全面分析青年鼻咽血管纤维瘤基因变异特点
Kiran Kumari,Shariya Afroj,Deeksha Madhry et al.
Kiran Kumari et al.
Introduction: The molecular basis and mechanisms of juvenile nasopharyngeal angiofibromas (JNA) pathogenesis are still unknown. Despite being a rare and benign neoplasm, JNA is a locally aggressive and potentially destruc...
Low-Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10-Year Single Institution Study [0.03%]
儿童急性淋巴细胞白血病初诊低水平BCR-ABL1转录本的单中心十年研究
Lucy E Cain,Oksana Mirochnik,Michael M Stevens et al.
Lucy E Cain et al.
Introduction: Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) is a high risk form of ALL associated with dismal outcomes in the pre-tyrosine kinase inhibitor (TKI) era. Addition of a TKI to chemo...
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma-Carcinoma Sequence [0.03%]
基于腺瘤-癌序列的体细胞拷贝数和点突变综合分析
Tamotsu Sugai,Mitsumasa Osakabe,Noriyuki Uesugi et al.
Tamotsu Sugai et al.
Aims: Identifying molecular alterations in the adenoma and carcinoma components within the same tumor would greatly contribute to understanding the neoplastic progression of early colorectal cancer. ...
Molecular Analysis of Renal/Adrenal Angiosarcomas Reveals High Frequency of Recurrent Genetic Alterations [0.03%]
肾上腺血管肉瘤的分子分析揭示了反复出现的遗传改变的高频率
Pedram Argani,Carla Saoud,Cristina R Antonescu
Pedram Argani
Angiosarcomas of the kidney and adrenal gland are rare, highly aggressive vascular neoplasms. Their genomic profile has not been systematically studied to date. We report the clinicopathologic and molecular features of six angiosarcomas cen...
Pediatric Fibromatosis Lacks the Internal Tandem Duplication of EGFR Seen in Congenital Mesoblastic Nephroma [0.03%]
儿童纤维瘤缺乏先天性肾母细胞瘤中看到的EGFR内部串联重复序列
Rose Chami,Paula Marrano,Paul S Thorner
Rose Chami
Classical and mixed congenital mesoblastic nephroma (CMN) are characterized by an internal tandem duplication (ITD) of the EGFR gene, in contrast to cellular CMN that usually harbors an ETV6::NTRK3 gene fusion. This same fusion occurs in in...