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Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis
BackgroundTeratomas are a common type of germ cell tumor. However, only a few reports on their genomic constitution have been published. The study of...
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Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss
Spontaneous abortion occurs in 8–20% of recognized pregnancies and usually takes place in the first trimester (7–11 weeks). There are many causes of...
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Genomic technologies for detecting structural variations in hematologic malignancies
Genomic structural variations in myeloid, lymphoid, and plasma cell neoplasms can provide key diagnostic, prognostic, and therapeutic information...
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Genomic testing for copy number and single nucleotide variants in spermatogenic failure
PurposeTo identify clinically significant genomic copy number (CNV) and single nucleotide variants (SNV) in males with unexplained spermatogenic...
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Fluorescent in situ hybridization has limitations in screening NRG1 gene rearrangements
BackgroundNRG1 fusion is a promising therapeutic target for various tumors but its prevalence is extremely low, and there are no standardized testing...
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Through the looking glass and what you find there: making sense of comparative genomic hybridization and fluorescence in situ hybridization for melanoma diagnosis
Melanoma is the leading cause of death among cutaneous neoplasms. Best outcome relies on early detection and accurate pathologic diagnosis. For the...
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Comparative genomic characterization of melanoma of known and unknown primary
BackgroundThis study aims to genomically characterize melanoma of unknown primary (MUP) in comparison to melanomas of cutaneous primary (MCP).
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Genomic landscape of Epstein–Barr virus-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue
Epstein–Barr virus (EBV)-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue (MALT lymphomas) were initially described...
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Genomic alterations related to HPV infection status in a cohort of Chinese prostate cancer patients
BackgroundHuman papillomavirus (HPV) has been proposed as a potential pathogenetic organism involved in prostate cancer (PCa), but the association...
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Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse
The genomic spectrum of rhabdomyosarcoma (RMS) progression from primary to relapse is not fully understood. In this pilot study, we explore the...
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Differences of genomic alterations and heavy metals in non-small cell lung cancer with different histological subtypes
PurposeThis study aimed to explore the correlations among heavy metals concentration, histologic subtypes and molecular characteristics in patients...
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Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report
BackgroundThe 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The...
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Current status and issues in genomic analysis using EUS-FNA/FNB specimens in hepatobiliary–pancreatic cancers
Comprehensive genomic profiling based on next-generation sequencing has recently been used to provide precision medicine for various advanced...
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Race and prostate cancer: genomic landscape
In the past 20 years, new insights into the genomic pathogenesis of prostate cancer have been provided. Large-scale integrative genomics approaches...
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Integrated genomic analyses of hepatocellular carcinoma
BackgroundGenomic alterations play important roles in the development of cancer. We explored the impact of protein-coding genes and transcriptomic...
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Cell-free DNA comparative analysis of the genomic landscape of first-line hormone receptor-positive metastatic breast cancer from the US and China
PurposeMeaningful comparison of mutational landscapes across ethnic groups requires the use of standardized platform technology. We have used a...
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Drivers of genomic loss of heterozygosity in leiomyosarcoma are distinct from carcinomas
Leiomyosarcoma (LMS) is a rare, aggressive, mesenchymal tumor. Subsets of LMS have been identified to harbor genomic alterations associated with...
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Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing in Chinese patients
Primary central nervous system lymphoma (PCNSL) is an uncommon non-Hodgkin’s lymphoma with poor prognosis. This study aimed to depict the genetic...
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Potential biomarker signatures in male infertility: integrative genomic analysis
BackgroundStudies have attributed 50% of infertility cases to male infertility, 15% of which is caused by idiopathic genetic factors. Currently, no...
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Comprehensive pan-cancer genomic landscape of KRAS altered cancers and real-world outcomes in solid tumors
Recent clinical development of KRAS inhibitors has heightened interest in the genomic landscape of KRAS -altered cancers. We performed a pan-cancer...