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Recent Case Studies

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Empire Genomics Helps Characterize Rare Chromosomal Abnormality in AML
Jumping translocations (JTs) are rare chromosomal abnormalities that involve a single donor chromosome and multiple recipient chromosomes.
Empire Genomics Probe Used to Identify Three-Way Translocation in B-cell Chronic Lymphocytic Leukemia
There are several frequently reported cytogenetic abnormalities associated with B-cell chronic lymphocytic leukemia (CLL). Chromosomal translocations involving immunoglobin heavy chain locus (IGH) have recently been revealed as being more frequent than previously reported.
Empire Genomics Helps Show DNA Repair Machinery's Role During Germline Chromothriptic Chromosome Reassembly
Complex chromosome rearrangements (CCRs) are structural variations (SVs) consisting of more than two chromosome breaks, resulting in exchanges of chromosomal segments.
Empire Genomics Contributed to First Report of FGFR2 Amplification in Primary CRC Tumor
Colorectal cancer (CRC) is the third most common malignancy diagnosed in both genders and a leading cause of mortality and morbidity.
Empire Genomics Helps Demonstrate Value of New Technology for Use in FFPE Samples
Clinical management and therapy of many solid tumor malignancies is dependent on detection of medically actionable or diagnostically relevant genetic variation.
Empire Genomics Aids in Analysis of Human Papillomavirus-Related Multiphenotypic Sinonasal Carcinoma
Human papillomavirus (HPV)-related multiphenotypic sinonasal carcinoma (HMSC) is an unusual sinonasal tract tumor that demonstrates features of both a surface-derived and salivary gland carcinoma and is consistently associated with high-risk HPV.
Empire Genomics Helps Characterize Rare Specific Gene Fusion in Acute Myeloid Leukemia
Chromosomal rearrangements involving the KMT2A gene are common in acute myeloid leukemia. 135 different KMT2A rearrangements have been identified and 94 translocation partner genes are characterized at the molecular level, of which 35 translocation partner genes occur recurrently but only 9 gene fusions account for over 90% of cases.
Empire Genomics Helps Establish Viability of Performing NGS on Malignant Effusions in Patients with MLA
Lung cancer is the most prominent cause of cancer-related morbidity. As new therapeutic biomarkers are discovered, targeted therapy for genomic alterations has become clinically relevant. Tumor genotyping and specific molecular treatments have become standard of care.
Empire Genomics Helps Nivolumab Receive Accelerated Approval for Hodgkin's Lymphoma
Bentruxumab vedotin is the only approved treatment for Hodgkin?s Lymphoma patients who have relapsed from Autologous stem cell transplants (ASCT), but for those who relapse after that, a third line option is needed.
Empire Genomics Probe Helps Researchers Report First Case of NUP98 Rearrangement in AML with t(11;19)(p15;p12) in the World
Acute myelomonocytic leukemia is a group of diseases derived from various cytogenetic and molecular abnormalities.
Empire Genomics Contributes to First Overnight Video-EEG Evaluation in PMS
Phelan-McDermid Syndrome (PMS) is a rare genetic condition associated with loss of function mutations in the chromosome 22q13 region.
Empire Genomics Helps Characterize Overexpression of SOX11 and TFE3 in SPNs
Solid-pseudopapillary neoplasms (SPNs) are rare, enigmatic tumors with unclear origins and directions of differentiation.
Empire Genomics Probe Used in Characterizing a Case of TFEB Renal Cell Carcinoma
t(6;11)(p21;q12)/TFEB gene fusion-associated renal cell carcinoma (referred to as TFEB renal cell carcinoma) is a recently recognized renal cell carcinoma caused by the formation of Alpha-TFEB fusion genes.