Progressive metastatic infantile fibrosarcoma with multiple acquired mutations [0.03%]
伴有多个获得性突变的进行性转移性婴儿纤维肉瘤
Larissa V Furtado,Marija Kacar,Roya Mostafavi et al.
Larissa V Furtado et al.
Infantile fibrosarcoma is the most common soft-tissue sarcoma in children under the age of 1 yr and is defined molecularly by NTRK fusion proteins. This tumor is known to be locally invasive; however, although rare, metastases can occur. Th...
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum [0.03%]
P3H1复合杂合突变导致成骨不全症第八型的较轻表型-进一步扩展了表型范围
Kristen A Mikhail,Elizabeth VanSickle,Linda Z Rossetti
Kristen A Mikhail
Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. Autosomal recessive OI type VIII is associated with biallelic pathogenic variants in P3H1 and classically chara...
Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing [0.03%]
全外显子组测序分析2例巴西室管膜肿瘤的基因组谱系
Felipe Antonio de Oliveira Garcia,Adriane Feijó Evangelista,Bruna Minniti Mançano et al.
Felipe Antonio de Oliveira Garcia et al.
Choroid plexus tumors (CPTs) are rare intracranial neoplasms, representing
Defining clonal hematopoiesis of indeterminate potential: evolutionary dynamics and detection under aging and inflammation [0.03%]
不确定潜能克隆造血的界定：衰老和炎症下的进化动力学及检测问题
Elisabeth A Goldman,Paul T Spellman,Anupriya Agarwal
Elisabeth A Goldman
Clonal hematopoiesis (CH), in which hematopoietic stem and progenitor cell (HSPC) clones and their progeny expand in the circulating blood cell population, occurs following the acquisition of somatic driver mutations. Individuals diagnosed ...
PIK3CA copy-number gain and inhibitors of the PI3K/AKT/mTOR pathway in triple-negative breast cancer [0.03%]
PIK3CA拷贝数增加和PI3K/AKT/mTOR通路抑制剂在三阴性乳腺癌中的作用
Ottavia Amato,Laurence Buisseret,Géraldine Gebhart et al.
Ottavia Amato et al.
As wider insights are gained on the molecular landscape of triple-negative breast cancer (TNBC), novel targeted therapeutic strategies might become an option in this setting as well. Activating mutations of PIK3CA represent the second most ...
Angela Krutish,James Elmore,Werner Ilse et al.
Angela Krutish et al.
Biallelic variants in the WFS1 gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram sy...
Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progression [0.03%]
多发性骨髓瘤的单细胞分析揭示了尽管临床进展但对FGFR3抑制剂的分子反应
Danielle C Croucher,Anup Joseph Devasia,Dor D Abelman et al.
Danielle C Croucher et al.
Genomic characterization of cancer has enabled identification of numerous molecular targets, which has led to significant advances in personalized medicine. However, with few exceptions, precision medicine approaches in the plasma cell mali...
A TRIP11:: FLT3 gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature [0.03%]
携带嗜酸性粒细胞和酪氨酸激酶基因融合的髓系/淋巴系肿瘤患者中发现TRIP11::FLT3基因融合：病例报告及文献回顾
Elise R Venable,Marie-France Gagnon,Beth A Pitel et al.
Elise R Venable et al.
Myeloid/lymphoid neoplasms with FLT3 gene fusions have recently been included among myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) in the World Health Organization classification and International Con...
Whole-genome characterization of myoepithelial carcinomas of the soft tissue [0.03%]
软组织肌上皮癌的全基因组特征分析
Joanna Cyrta,Joel Rosiene,Rohan Bareja et al.
Joanna Cyrta et al.
Myoepithelial carcinomas (MECs) of soft tissue are rare and aggressive tumors affecting young adults and children, but their molecular landscape has not been comprehensively explored through genome sequencing. Here, we present the whole-exo...
Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms [0.03%]
SBDS基因的两个突变揭示了一位非典型症状患者的Shwachman-Diamond综合征诊断
María Noel Spangenberg,Sofia Grille,Camila Simoes et al.
María Noel Spangenberg et al.
We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman-Diamond ...