Genetic and transcriptomic analyses in a rare case of human papillomavirus-related oropharyngeal squamous-cell carcinoma combined with small-cell carcinoma [0.03%]
一种罕见的人乳头瘤病毒相关的口咽鳞癌与小细胞癌合并发生的基因和转录组分析
Kuniaki Sato,Kazuo Nishiyama,Kenichi Taguchi et al.
Kuniaki Sato et al.
Human papillomavirus (HPV)-related oropharyngeal small-cell carcinoma (OPSmCC) is a rare malignancy with aggressive behavior, whereas HPV-related oropharyngeal squamous-cell carcinoma (OPSqCC) displays a favorable prognosis. Notably, these ...
Mechanisms of targeted therapy resistance in a pediatric glioma driven by ETV6-NTRK3 fusion [0.03%]
ETV6-NTRK3融合驱动的儿童胶质瘤靶向治疗耐药机制
Clare Keddy,Tanaya Neff,Jianya Huan et al.
Clare Keddy et al.
Chromosomal rearrangements of the NTRK genes generate kinase fusions that are targetable oncogenic drivers in diverse adult and pediatric malignancies. Despite robust clinical response to targeted NTRK inhibition, the emergence of therapeut...
Andrew D Woods,Reshma Purohit,Laura Crocker Mitchell et al.
Andrew D Woods et al.
Sclerosing epithelioid fibrosarcoma (SEF) is a rare and aggressive soft-tissue sarcoma thought to originate in fibroblasts of the tissues comprising tendons, ligaments, and muscles. Minimally responsive to conventional cytotoxic chemotherap...
A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome [0.03%]
霍曼斯基-普杜拉综合征患者的致病性变异谱系研究
Lisa A Lansdon,Dong Chen,Eric T Rush et al.
Lisa A Lansdon et al.
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission ele...
Case of multifocal glioblastoma with four fusion transcripts of ALK, FGFR2, NTRK2, and NTRK3 genes stresses the need for tumor tissue multisampling for transcriptomic analysis [0.03%]
多重取样的转录组分析发现多病灶胶质母细胞瘤携带4种融合基因(ALK、FGFR2、NTRK2和NTRK3)
Amir Samii,Maxim Sorokin,Souvik Kar et al.
Amir Samii et al.
Glioblastoma multiforme (GBM) is the most malignant brain tumor with patient mortality rate close to 100%, 5-yr survival rate of ∼5%, and a median survival of 14 mo. GBMs have notorious histomorphologic and molecular heterogeneities thus g...
Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed ALK F1174L-mutated neuroblastoma [0.03%]
ALK和ROS1抑制剂劳拉替尼对复发的ALK F1174L突变神经母细胞瘤的异常反应及随后的耐药机制研究
Tingting Liu,Matthew D Merguerian,Steven P Rowe et al.
Tingting Liu et al.
Treatment of high-risk neuroblastoma typically incorporates multiagent chemotherapy, surgery, radiation therapy, autologous stem cell transplantation, immunotherapy, and differentiation therapy. The discovery of activating mutations in ALK ...
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles [0.03%]
致病性生殖系IKZF1变异改变造血基因表达谱型
Seth A Brodie,Payal P Khincha,Neelam Giri et al.
Seth A Brodie et al.
IKZF1 encodes Ikaros, a zinc finger-containing transcription factor crucial to the development of the hematopoietic system. Germline pathogenic variants in IKZF1 have been reported in patients with acute lymphocytic leukemia and immunodefic...
Mismatch repair-deficient prostate cancer with parenchymal brain metastases treated with immune checkpoint blockade [0.03%]
错配修复缺陷型前列腺癌伴实质脑转移的免疫检查点阻断治疗
Laura A Sena,Daniela C Salles,Elizabeth L Engle et al.
Laura A Sena et al.
Parenchymal brain metastases from prostate cancer are unusual and are associated with poor prognosis. Given the rarity of this entity, little is known about its molecular and histologic characteristics. Here we describe a patient with metas...
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency [0.03%]
dried blood spot测序鉴定出一个全新的SUOX同合子变异，导致孤立性亚硫酸盐氧化酶缺陷
Mallory J Owen,Jerica Lenberg,Annette Feigenbaum et al.
Mallory J Owen et al.
Rapid whole-genome sequencing (rWGS) has shown that genetic diseases are a common cause of infant mortality in neonatal intensive care units. Dried blood spots collected for newborn screening allow investigation of causes of infant mortalit...
Incidental identification of inv(16)(p13.1q22)/ CBFB- MYH11 variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen: implications for diagnosis and therapy [0.03%]
常规白血病易位检测面板筛查出治疗相关急性髓系白血病患者伴16号染色体倒位（inv(16)(p13.1q22)/ CBFB-MYH11）变异转录本的意义：对诊断和治疗的启示
Andrés E Quesada,Rajyalakshmi Luthra,Elias Jabbour et al.
Andrés E Quesada et al.
A 52-yr-old woman presented with therapy-related acute myeloid leukemia. A bone marrow biopsy showed 21% blasts with a myeloid phenotype and no other notable features such as abnormal eosinophils. Routine nanofluidics-based reverse transcri...