Search
Search Results
-
Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast
Carcinomas with apocrine differentiation (CAD) of the breast are rare tumours typically presenting high immunohistochemical expression of androgen...
-
Identification of aneuploidy in dogs screened by a SNP microarray
Microarray analysis is an efficient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a...
-
Increased ERBB2 Gene Copy Numbers Reveal a Subset of Salivary Duct Carcinomas with High Densities of Tumor Infiltrating Lymphocytes and PD-L1 Expression
Salivary duct carcinoma (SDC) commonly expresses androgen receptor (AR) and HER2, giving rise to treatment implications. SDC may also express...
-
SOX2 expression in the pathogenesis of premalignant lesions of the uterine cervix: its histo-topographical distribution distinguishes between low- and high-grade CIN
SOX2 expression in high-grade cervical intraepithelial neoplasia (CIN3) and cervical squamous cell carcinoma is increased compared to that in the...
-
Biliary Tract Cancers
Epidemiology: Biliary tract cancers (BTCs) are malignancies that include cholangiocarcinoma (CCA) and gallbladder cancer (GBC) [1, 2]. BTCs account...
-
DBD-FISH Using Specific Chromosomal Region Probes for the Study of Cervical Carcinoma Progression
Genomic instability is an important biomarker in the progression of cervical carcinoma. DBD-FISH (DNA breakage detection-fluorescence in situ...
-
Diagnostic performance of fluorescence in situ hybridization (FISH) in upper tract urothelial carcinoma (UTUC): a systematic review and meta-analysis
BackgroundFluorescence in situ hybridization (FISH) is a technique that uses fluorescently labeled DNA probes. Many studies have evaluated the ROC...
-
Multitarget Fluorescence In Situ Hybridization Diagnostic Applications in Tumors
Multitarget fluorescence in situ hybridization (mFISH) is a technique that allows the detection of multiple target sequences on the same sample using...
-
The identification of gene signatures in patients with extranodal NK/T-cell lymphoma from a pair of twins
BackgroundThere is no unified treatment standard for patients with extranodal NK/T-cell lymphoma (ENKTL). Cancer neoantigens are the result of...
-
An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report
Uniparental disomies (UPD) refers to the inheritance of both homologs of a chromosome from only one parent with no representative copy from the other...
-
Family case of Potocki-Lupski syndrome
BackgroundPotocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous...
-
Genomic characterization and tumor evolution in paired samples of metaplastic breast carcinoma
Metaplastic breast carcinomas are a rare and heterogeneous group of tumors (0.5–2%). They are mainly triple negative tumors but they present poorer...
-
Map** recurrent mosaic copy number variation in human neurons
When somatic cells acquire complex karyotypes, they often are removed by the immune system. Mutant somatic cells that evade immune surveillance can...
-
Standardized pathology report for HER2 testing in compliance with 2023 ASCO/CAP updates and 2023 ESMO consensus statements on HER2-low breast cancer
Since the release of the DESTINY-Breast04 (DB-04) trial findings in June 2022, the field of pathology has seen a renaissance of HER2 as a predictive...
-
HER2 copy number determination in breast cancer using the highly sensitive droplet digital PCR method
Human epidermal growth factor receptor 2 (HER)-positive breast cancer (BC) is characterized by an aggressive clinical course. In the case of HER2...
-
Ring Chromosome 4
We describe the cytogenomic and clinical characteristics of 47 individuals of ring chromosome 4 (RC4) published in the literature. In nine cases,...
-
Mate Pair Sequencing: Next-Generation Sequencing for Structural Variant Detection
Structural variant detection by next-generation sequencing (NGS) methods have a higher molecular resolution than conventional cytogenetic techniques...
-
Parental balanced chromosomal rearrangement leading to major genomic imbalance and an autosomal trisomy resulting in consecutive pregnancy loss: a case report
Chromosomal aberrations such as parental balanced translocation contribute to a significant proportion of recurrent pregnancy losses. These have...
-
Introduction and Early Fetal Stage Placenta (First Trimester, 8–12 Gestational Weeks (WG))
Examination of the placenta is an important tool for understanding adverse pregnancy outcomes. Best practice suggests that placental tissues from all...
-
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
DNA repair defects underlie many cancer syndromes. We tested whether de novo germline mutations (DNMs) are increased in families with germline...
