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A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements
PurposeOur objective is to predict the cumulative live birth rate (CLBR) and identify the specific subset within the population undergoing...
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Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier
IntroductionComplex chromosomal rearrangements (CCRs) involve two or more chromosomes and at least three breakpoints. Due to their complexity, they...
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Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization
PurposeTo report genetic characteristics and associated risk of chromosomal breaks due to chromosomal rearrangements in large samples.
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The two sides of chromosomal instability: drivers and brakes in cancer
Chromosomal instability (CIN) is a hallmark of cancer and is associated with tumor cell malignancy. CIN triggers a chain reaction in cells leading to...
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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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B-lymphoblastic leukemia/lymphoma with MYC and BCL2 gene rearrangements shows evidence for clonal evolution and mitotic recombination
BackgroundB-lymphoblastic leukemia/lymphomas (B-ALL/LBL) are uncommon neoplasms that may be associated with a variety of cytogenetic and molecular...
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The yin and yang of chromosomal instability in prostate cancer
Metastatic prostate cancer remains an incurable lethal disease. Studies indicate that prostate cancer accumulates genomic changes during disease...
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Outcome of 3q26.2/MECOM rearrangements in chronic myeloid leukemia
Study aimsTo evaluate the outcomes of patients with 3q26.2/MECOM-rearranged chronic myeloid leukemia (CML).
MethodsWe reviewed consecutive adult...
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The Prevalence and Type of Congenital Heart Diseases in Cytogenetic and Monogenic Chromosomal Rearrangements
In this study, it was aimed to investigate the pattern of congenital heart diseases in cytogenetic and monogenic chromosomal rearrangements. The...
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Genetic and clinical characteristics of acute B-cell lymphoblastic leukemia with MEF2D fusions and report of two novel MEF2D rearrangements
The MEF2D rearrangement is a recurrent chromosomal abnormality detected in approximately 2.4–5.3% of patients with acute B-cell lymphoblastic...
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Rearrangements involving 11q23.3/KMT2A in adult AML: mutational landscape and prognostic implications – a HARMONY study
Balanced rearrangements involving the KMT2A gene ( KMT2A r) are recurrent genetic abnormalities in acute myeloid leukemia (AML), but there is lack of...
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Targeting chromosomal instability in patients with cancer
Chromosomal instability (CIN) is a hallmark of cancer and a driver of metastatic dissemination, therapeutic resistance, and immune evasion. CIN is...
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Detecting anaplastic lymphoma kinase (ALK) gene rearrangements with next-generation sequencing remains a reliable approach in patients with non-small-cell lung cancer
Next-generation sequencing (NGS) is rapidly becoming routine in clinical oncology practice to identify therapeutic biomarkers, including gene...
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Evolution of structural rearrangements in prostate cancer intracranial metastases
Intracranial metastases in prostate cancer are uncommon but clinically aggressive. A detailed molecular characterization of prostate cancer...
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Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies
Liquid biopsy is a minimally invasive diagnostic tool for identification of tumor-related mutations in circulating cell-free DNA (cfDNA). The aim of...
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Round-robin testing for LMO2 and MYC as immunohistochemical markers to screen MYC rearrangements in aggressive large B-cell lymphoma
Aggressive large B-cell lymphomas (aLBCL) include a heterogeneous group of lymphomas with diverse biological features. One of the approaches to the...
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Crizotinib in patients with tumors harboring ALK or ROS1 rearrangements in the NCI-MATCH trial
The NCI-MATCH was designed to characterize the efficacy of targeted therapies in histology-agnostic driver mutation-positive malignancies....
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Molecular analysis of apocrine mixed tumors and cutaneous myoepitheliomas: a comparative study confirming a continuous spectrum of one entity with near-ubiquitous PLAG1 and rare mutually exclusive HMGA2 gene rearrangements
Myoepithelial neoplasms of the skin and soft tissue still represent a confusing and somewhat controversial field in pathology as it appears that this...
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Chromosomal Copy Number Variation Analysis in Pregnancy Products from Recurrent and Sporadic Miscarriage Using Next-Generation Sequencing
Chromosomal abnormality is one of the causes of fetal miscarriage. The potential differences of fetal chromosomal abnormalities in sporadic...
