The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature [0.03%]
二氢嘧啶酶缺陷患者的确诊历程：病例报告及文献回顾
Daniah Albokhari,Ohood Alharbi,Alyssa Blesson et al.
Daniah Albokhari et al.
Dihydropyrimidinase (DHP) deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants of DPYS Patients with DHP deficiency exhibit a broad spectrum of phenotypes, ranging from severe neurological and gast...
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera [0.03%]
单个患者三种不同血液肿瘤的共同克隆起源：B细胞淋巴瘤，T细胞淋巴瘤和真性红细胞增多症
Dingani Nkosi,Andrew W Allbee,Paul G Rothberg et al.
Dingani Nkosi et al.
The potential for more than one distinct hematolymphoid neoplasm to arise from a common mutated stem or precursor cell has been proposed based on findings in primary human malignancies. Particularly, angioimmunoblastic T-cell lymphoma (AITL...
PD-L1+ diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation [0.03%]
由于获得性PMS2突变导致极高突变负担和微卫星不稳定的PD-L1+ 弥漫大B细胞淋巴瘤
Andrew W Allbee,James Gerson,Guang Yang et al.
Andrew W Allbee et al.
We present a unique case of a single patient presenting with two mutationally distinct, PD-L1+ diffuse large B-cell lymphomas (DLBCLs). One of these DLBCLs demonstrated exceptionally high mutational burden (eight disease-associated variants...
Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant [0.03%]
TP53基因p.K164E乙酰化位点变异的临床和功能分析
Emilia Modolo Pinto,Enilze M S F Ribeiro,Jinling Wang et al.
Emilia Modolo Pinto et al.
TP53 plays a critical role as a tumor suppressor by controlling cell cycle progression, DNA repair, and apoptosis. Post-translational modifications such as acetylation of specific lysine residues in the DNA binding and carboxy-terminus regu...
Health supervision for children and adolescents with 16p11.2 deletion syndrome [0.03%]
16p11.2缺失综合征儿童青少年的健康管理监护
Wendy K Chung,Faranak F Herrera;Simon&#x;s Searchlight Foundation
Wendy K Chung
Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the...
Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data Commons [0.03%]
退伍军人精准肿瘤数据共用平台中的分子标志物用于前列腺癌患者的分层
Kyle M Hernandez,Aarti Venkat,Danne C Elbers et al.
Kyle M Hernandez et al.
Veterans are at an increased risk for prostate cancer, a disease with extraordinary clinical and molecular heterogeneity, compared with the general population. However, little is known about the underlying molecular heterogeneity within the...
Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach [0.03%]
帕唑帕尼对转移性肢端纤维瘤病有效：一种功能精准医疗的方法
Sharon Pei Yi Chan,Chen Ee Low,Chun En Yau et al.
Sharon Pei Yi Chan et al.
Metastatic porocarcinomas (PCs) are vanishingly rare, highly aggressive skin adnexal tumors with mortality rates exceeding 70%. Their rarity has precluded the understanding of their disease pathogenesis, let alone the conduct of clinical tr...
Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants [0.03%]
一名携带新颖的SMARCA4和EZH2胚系变异的3岁患者的同步T淋巴母细胞型淋巴瘤与神经母细胞瘤病例
Pauline Tibout,Joel Livingston,Nisha Kanwar et al.
Pauline Tibout et al.
T-lymphoblastic lymphoma (T-LLy) is the most common lymphoblastic lymphoma in children and often presents with a mediastinal mass. Lymphomatous suprarenal masses are possible but rare. Here, we discuss the case of a previously healthy 3-yr-...
Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient [0.03%]
单个患者从增生到子宫内膜癌12年发展过程中的深度分子追踪分析
Katherine Reid,Olga Camacho-Vanegas,Deep Pandya et al.
Katherine Reid et al.
Although the progressive histologic steps leading to endometrial cancer (EndoCA), the most common female reproductive tract malignancy, from endometrial hyperplasia are well-established, the molecular changes accompanying this malignant tra...
ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism [0.03%]
与颅面特征相关的ITPR1相关脊小脑共济失调-支持生殖细胞镶嵌的更多证据
Robert Kleyner,Nathaniel Ung,Mohammad Arif et al.
Robert Kleyner et al.
Inositol 1,4,5-triphosphate receptor type 1 (ITPR1) is an endoplasmic reticulum-bound intracellular inositol triphosphate receptor involved in the regulation of intracellular calcium. Pathogenic variants in ITPR1 are associated with spinoce...