Aaron Bossler
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View article: Detection of Constitutional Structural Variants by Optical Genome Mapping
Detection of Constitutional Structural Variants by Optical Genome Mapping Open
Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care…
View article: EGFR and ERBB2 exon 20 insertion/duplication in advanced non–small cell lung cancer: genomic profiling and clinicopathologic features
EGFR and ERBB2 exon 20 insertion/duplication in advanced non–small cell lung cancer: genomic profiling and clinicopathologic features Open
Background Exon 20 (ex20) in-frame insertions or duplications (ins/dup) in epidermal growth factor receptor ( EGFR ) and its analog erb-b2 receptor tyrosine kinase 2 ( ERBB2 ) are each detected in 1.5% of non–small cell lung cancer (NSCLC)…
View article: RNA sequencing steps toward the first line
RNA sequencing steps toward the first line Open
Plain language summary DNA is the sequence that codes for proteins. Messenger RNA is transcribed from the DNA sequence of genes and translated into protein. It can be difficult to predict how a change in the DNA sequence will affect messen…
View article: Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts
Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts Open
Several medical societies including the American College of Medical Genetics and Genomics, the American Academy of Neurology, and the Association of Molecular Pathology recommend chromosomal microarray (CMA) as the first-tier test in the g…
View article: The Genetics of Early-Stage Melanoma in a Veteran Population
The Genetics of Early-Stage Melanoma in a Veteran Population Open
To improve understanding of the genetic signature of early-stage melanomas in Veterans, hotspot mutation profiling using next-generation sequencing (NGS) was performed on melanoma tissue samples from patients at the Iowa City Veterans Affa…
View article: Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis
Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis Open
Background The standard of care (SOC) cytogenetic testing methods, such as chromosomal microarray (CMA) and Fragile-X syndrome (FXS) testing, have been employed for the detection of copy number variations (CNVs), and tandem repeat expansio…
View article: EIF4A2 as another novel fusion partner of PLAG1 in lipoblastoma
EIF4A2 as another novel fusion partner of PLAG1 in lipoblastoma Open
The 5th edition of the WHO classification of Soft Tissue and Bone tumors recognizes lipoblastoma as a benign adipocytic tumor with excellent prognosis and a recurrence rate of 13–46%. The characteristic genomic alteration that helps separa…
View article: Next generation sequencing identifies potential PARP inhibitor sensitive mutations
Next generation sequencing identifies potential PARP inhibitor sensitive mutations Open
Introduction/Objective Poly ADP-ribose polymerase (PARP) inhibitors are a novel and important drug class targeting homologous recombination DNA repair defects (HRD) and have been approved for use in breast, pancreatic and ovarian cancers. …
View article: Monocytes Exposed to Immune Complexes Reduce pDC Type 1 Interferon Response to Vidutolimod
Monocytes Exposed to Immune Complexes Reduce pDC Type 1 Interferon Response to Vidutolimod Open
Vidutolimod, also known as CMP-001, is a virus-like particle composed of the Qβ bacteriophage coat protein encasing a TLR9 agonist. Vidutolimod injected intratumorally is showing promise in early phase clinical trials based on its ability …
View article: Melanoma Brain Metastases in the Era of Targeted Therapy and Checkpoint Inhibitor Therapy
Melanoma Brain Metastases in the Era of Targeted Therapy and Checkpoint Inhibitor Therapy Open
Brain metastases commonly develop in melanoma and are associated with poor overall survival of about five to nine months. Fortunately, new therapies, including immune checkpoint inhibitors and BRAF/MEK inhibitors, have been developed. The …
View article: CLL dedifferentiation to clonally related myeloid cells
CLL dedifferentiation to clonally related myeloid cells Open
Key Points Common progenitor cells exist in clonally related concomitant chronic lymphocytic leukemia and acute myeloid leukemias. CLL cells dedifferentiated to clonally related myeloid cells posttransplantation.
View article: RARE-13. INFLAMMATORY MYOFIBROBLASTIC TUMOR MIMICKING DESMOPLASTIC INFANTILE GANGLIOGLIOMA (DIG) OF THE TEMPORAL LOBE
RARE-13. INFLAMMATORY MYOFIBROBLASTIC TUMOR MIMICKING DESMOPLASTIC INFANTILE GANGLIOGLIOMA (DIG) OF THE TEMPORAL LOBE Open
Inflammatory myofibroblastic tumor (IMT) is a mesenchymal neoplasm composed of fascicles of myofibroblastic spindle cells in a background of prominent inflammatory infiltrate. It is categorized as ‘intermediate, rarely metastasizing’ in th…
View article: Multivariable Analysis of 169 Cases of Advanced Cutaneous Melanoma to Evaluate Antibiotic Exposure as Predictor of Survival to Anti-PD-1 Based Immunotherapies
Multivariable Analysis of 169 Cases of Advanced Cutaneous Melanoma to Evaluate Antibiotic Exposure as Predictor of Survival to Anti-PD-1 Based Immunotherapies Open
Recently antibiotic exposure has been associated with worse outcomes in patients undergoing treatment with antibodies directed against programmed cell death protein-1 (PD-1). We reviewed data of 1264 patients enrolled at Melanoma Skin and …
View article: Exploration of PCORnet Data Resources for Assessing Use of Molecular-Guided Cancer Treatment
Exploration of PCORnet Data Resources for Assessing Use of Molecular-Guided Cancer Treatment Open
PURPOSE Examine the ability of PCORnet data resources to investigate molecular-guided cancer treatment. PATIENTS AND METHODS Patients (N = 86,154) had single primary solid tumors (diagnosed 2013-2017) from hospital oncology registries link…
Coactivation of NF-κB and Notch signaling is sufficient to induce B-cell transformation and enables B-myeloid conversion Open
NF-κB and Notch signaling can be simultaneously activated in a variety of B-cell lymphomas. Patients with B-cell lymphoma occasionally develop clonally related myeloid tumors with poor prognosis. Whether concurrent activation of both pathw…
View article: TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy Open
Background Transport protein particle (TRAPP) is a supramolecular protein complex that functions in localizing proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in muscle disease by virtue of homozygous and compou…
View article: Durable Clinical Benefit in Patients with Advanced Cutaneous Melanoma after Discontinuation of Anti-PD-1 Therapies Due to Immune-Related Adverse Events
Durable Clinical Benefit in Patients with Advanced Cutaneous Melanoma after Discontinuation of Anti-PD-1 Therapies Due to Immune-Related Adverse Events Open
Introduction . Anti-PD-1 therapies, pembrolizumab and nivolumab, are currently the standard of care for treatment of patients with metastatic melanoma. Treatment is usually continued until toxicity or disease progression. Though these ther…
View article: Urothelial carcinoma with an <i>NRF1-BRAF</i> rearrangement and response to targeted therapy
Urothelial carcinoma with an <i>NRF1-BRAF</i> rearrangement and response to targeted therapy Open
Although BRAF mutations are commonly identified in many solid tumors and the response of BRAF p.V600E-positive tumors to targeted therapy is well documented, BRAF rearrangements are less frequent and are predominantly found in low-grade gl…
View article: <i>BCR-NTRK2</i> fusion in a low-grade glioma with distinctive morphology and unexpected aggressive behavior
<i>BCR-NTRK2</i> fusion in a low-grade glioma with distinctive morphology and unexpected aggressive behavior Open
A 52-yr-old man was found to have a 6.6-cm left frontotemporal mass. Biopsy revealed a low-grade astrocytic neoplasm with significant infiltration and an unusual morphologic appearance. Only rare mitotic figures were seen and the Ki-67 pro…
View article: Exceptional responses with sequential metronomic temozolomide after pembrolizumab failure in patients with metastatic melanoma
Exceptional responses with sequential metronomic temozolomide after pembrolizumab failure in patients with metastatic melanoma Open
Pembrolizumab is an effective therapy for patients with metastatic melanoma. However, not all patients derive benefit. It is postulated that an increase in regulatory T cells in melanoma patients can impair the response to immunotherapies.…
View article: A Phase I/II Study Targeting Angiogenesis Using Bevacizumab Combined with Chemotherapy and a Histone Deacetylase Inhibitor (Valproic Acid) in Advanced Sarcomas
A Phase I/II Study Targeting Angiogenesis Using Bevacizumab Combined with Chemotherapy and a Histone Deacetylase Inhibitor (Valproic Acid) in Advanced Sarcomas Open
Epigenetic events and genetic alterations under the control of the tumor microenvironment potentially mediate tumor induced angiogenesis involved in soft tissue sarcoma (STS) metastasis. Addition of antiangiogenic agent, such as bevacizuma…
View article: Targeting epigenetics for treatment of BRAF mutated metastatic melanoma with decitabine in combination with vemurafenib: A phase lb study
Targeting epigenetics for treatment of BRAF mutated metastatic melanoma with decitabine in combination with vemurafenib: A phase lb study Open
The combination of oral vemurafenib with subcutaneous decitabine is safe and showed activity in V600EBRAF positive metastatic melanoma. Since most responses were seen in cohort 1, which utilized low-dose, long-term decitabine, future studi…