Corrigendum: Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation [0.03%]
PI3KCA、GNAS和PTEN突变在带有MYOD1 L122R突变的肌膜型横纹肌肉瘤中的功能影响及靶向性校正：功能性影响和靶点性质
Florence Choo,Igor Odintsov,Kevin Nusser et al.
Florence Choo et al.
Published Erratum
Cold Spring Harbor molecular case studies. 2022 Apr 28;8(3):a006216. DOI:10.1101/mcs.a006216 2022
Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathways [0.03%]
全基因组和转录组分析揭示了影响表观基因组和DNA修复通路的高级别肾上腺皮质癌多重改变
Jean-Michel Lavoie,Veronika Csizmok,Laura M Williamson et al.
Jean-Michel Lavoie et al.
Adrenocortical cancer (ACC) is a rare cancer of the adrenal gland. Several driver mutations have been identified in both primary and metastatic ACCs, but the therapeutic options are still limited. We performed whole-genome and transcriptome...
Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer [0.03%]
ATM和BAP1基因胚系致病突变导致的一种早发性家族遗传性肉瘤样肾癌病例研究
Hannah N Bell,Chandan Kumar-Sinha,Rahul Mannan et al.
Hannah N Bell et al.
Metastatic renal cell carcinoma (RCC) remains an incurable malignancy, despite recent advances in systemic therapies. Genetic syndromes associated with kidney cancer account for only 5%-8% of all diagnosed kidney malignancies, and genetic p...
Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research report [0.03%]
两例转移性黏膜皮肤腺癌接受检查点抑制剂治疗后长期应答的病例报告
Rebecca R Pharaon,Thomas Gernon,Sue Chang et al.
Rebecca R Pharaon et al.
Salivary gland tumors (SGTs) are heterogeneous tumors that range from benign masses to aggressive high-grade carcinomas with distant metastatic potential and limited response to chemotherapy. Mucoepidermoid carcinoma (MEC) accounts for 10% ...
Ryan M Powell,Sharon Pattison,Jiri C Moravec et al.
Ryan M Powell et al.
Tuberous sclerosis complex (TSC) is an inheritable disorder characterized by the formation of benign yet disorganized tumors in multiple organ systems. Germline mutations in the TSC1 (hamartin) or more frequently TSC2 (tuberin) genes are ca...
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report [0.03%]
脑脊液游离DNA在PIK3CA相关巨脑症-毛细血管畸形（MCAP）综合征分子诊断中的应用价值：病例报告
Wei-Liang Chen,Emily Pao,James Owens et al.
Wei-Liang Chen et al.
The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in PIK3CA It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth...
Tumor-immune microenvironment revealed by Imaging Mass Cytometry in a metastatic sarcomatoid urothelial carcinoma with a prolonged response to pembrolizumab [0.03%]
基于影像质谱流式细胞技术的肿瘤免疫微环境在对派姆单抗(Pembrolizumab)治疗反应持久的肉瘤样移行细胞癌患者中的表现
Hussein Alnajar,Hiranmayi Ravichandran,André Figueiredo Rendeiro et al.
Hussein Alnajar et al.
Sarcomatoid urothelial carcinoma (SUC) is a rare subtype of urothelial carcinoma (UC) that typically presents at an advanced stage compared to more common variants of UC. Locally advanced and metastatic UC have a poor long-term survival fol...
Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome [0.03%]
伴有MN1-ETV6融合的唐氏综合征儿童急性髓系白血病病例报告
Jaclyn Rosenzweig,Pallavi M Pillai,Susan Prockop et al.
Jaclyn Rosenzweig et al.
Myeloid leukemia of Down syndrome (ML-DS) in young children is associated with distinct clinical and biological features and is typically initiated with oncogenic mutations in the X-linked megakaryocytic transcription factor GATA1. Here we ...
Computational and experimental methods for classifying variants of unknown clinical significance [0.03%]
用于分类临床意义未知变异的计算和实验方法
Malte Spielmann,Martin Kircher
Malte Spielmann
The increase in sequencing capacity, reduction in costs, and national and international coordinated efforts have led to the widespread introduction of next-generation sequencing (NGS) technologies in patient care. More generally, human gene...
A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome [0.03%]
在患有波兰综合征的男孩中鉴定出新的SFMBT1致病变异体
Andri Miltiadous,Philippos Demetriou,Maria Kyriakou et al.
Andri Miltiadous et al.
Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause ha...