Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care [0.03%]
PPPxR5D型PPP2综合征（乔丹综合征）的临床特征，支持制定护理标准
Alexis D Levine,Wendy K Chung
Alexis D Levine
PPP2 syndrome type R5D, or Jordan's syndrome, is a neurodevelopmental disorder caused by pathogenic missense variants in PPP2R5D, a β-subunit of the Protein Phosphatase 2A (PP2A). The condition is characterized by global developmental dela...
Contributions of rare and common variation to early-onset and atypical dementia risk [0.03%]
罕见和常见变异对早发型及非典型性痴呆风险的影响
Carter A Wright,Jared W Taylor,Meagan Cochran et al.
Carter A Wright et al.
We collected and analyzed genomic sequencing data from individuals with clinician-diagnosed early-onset or atypical dementia. Thirty-two patients were previously described, with 68 newly described in this report. Of those 68, 62 patients se...
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay [0.03%]
临床病例报告：患有自闭症谱系障碍和神经发育迟缓的患者中的ANK3致病嵌合变异
Xiaolan Fang,Timothy Fee,Jessica Davis et al.
Xiaolan Fang et al.
Ankyrins are a family of proteins that link integral membrane proteins to the underlying spectrin-actin cytoskeleton and play a key role in activities such as cell motility, activation, proliferation, cell-cell contact, and the maintenance ...
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure [0.03%]
与骨髓衰竭相关的MECOM基因异常所致死胎宫内发育受限和胎儿水肿综合征
Camille A Dash,Jill A Madden,Christy Cummings et al.
Camille A Dash et al.
Pathogenic variants in MECOM, a gene critical to the self-renewal and proliferation of hematopoietic stem cells, are known to cause a rare bone marrow failure syndrome associated with amegakaryocytic thrombocytopenia and bilateral radioulna...
Complete response to chemoimmunotherapy with bevacizumab in synchronous multiple primary cancers: pulmonary adenocarcinoma and sarcomatoid carcinoma [0.03%]
苯达莫司汀化疗免疫治疗对同步多原发癌的完全缓解：肺腺癌和肉瘤样癌
Diogo Garcia,Isa Mambetsariev,Jeremy Fricke et al.
Diogo Garcia et al.
A small percentage of patients have multiple synchronous primary cancers at presentation. In the last five years, many regimens associated with immunotherapy and chemotherapy were approved for first-line metastatic non-small-cell lung cance...
David Y Chen,Leslie A Sutton,Sai Mukund Ramakrishnan et al.
David Y Chen et al.
Alterations in epigenetic regulators are increasingly recognized as early events in tumorigenesis; thus, patients with acquired or inherited variants in epigenetic regulators may be at increased risk for developing multiple types of cancer....
Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia [0.03%]
克隆性意义不确定的血细胞减少症（CCUS）相关供体衍生的瞬时αβ T细胞大颗粒淋巴细胞增多症在γδ T细胞大颗粒淋巴细胞白血病病史患者移植后逆转的病例报告
Siba El Hussein,Andrew G Evans,John M Fitzsimmons et al.
Siba El Hussein et al.
Autologous and allogeneic hematopoietic stem cell transplantation (HSCT) has revolutionized the therapy of hematolymphoid malignancies. Yet, how to best detect or predict the emergence of HSCT-related complications remain unresolved. Here, ...
Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor [0.03%]
起源于成熟胸腺畸胎瘤的间变性黑色素神经上皮肿瘤转移的基因组分析作为纵隔生殖细胞肿瘤的一部分
Sylvain Mayeur,Benoit Lhermitte,Justine Gantzer et al.
Sylvain Mayeur et al.
Following chemotherapy, a mediastinal germ cell tumor can lead to a mature teratoma that is composed of tissues derived from all three germ layers. Although teratoma is usually curable, in rare cases it can give rise to various somatic tumo...
A familial SAMD9 variant present in pediatric myelodysplastic syndrome [0.03%]
儿童骨髓增生异常综合征中的SAMD9家族变异体
Mahvish Q Rahim,April Rahrig,Kathleen Overholt et al.
Mahvish Q Rahim et al.
Myelodysplastic syndrome (MDS) is a rare pediatric diagnosis characterized by ineffective hematopoiesis with potential to evolve into acute myelogenous leukemia (AML). In this report, we describe a unique case of a 17-yr-old female with an ...
Mismatch repair-deficient glioma with spatially distinct IDH-mutant and IDH-wild type components arising in the setting of Lynch syndrome [0.03%]
利氏综合症背景下的错配修复缺陷型胶质瘤并伴有空间异质性的IDH突变和野生型成分
Hao Tan,Caleb Nerison,Cooper Stateler et al.
Hao Tan et al.
Pathogenic mutations in MLH1, MSH2, PMS2, and MSH6 compromise DNA mismatch repair mechanisms and in the heterozygous state result in Lynch syndrome, which is typified by a predisposition to endometrial, ovarian, colorectal, gastric, breast,...