Catherine E. Cottrell
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View article: MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors
MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors Open
These findings demonstrate applicability of our personalized MRD4U assay in early detection of disease recurrence. Unlike non-targeted or tumor-agnostic CSF liquid biopsy approaches, MRD4U leverages patient-specific genomic information to …
View article: Childhood cancer data initiative: expanded access to tumor molecular profiling for children, adolescents, and young adults
Childhood cancer data initiative: expanded access to tumor molecular profiling for children, adolescents, and young adults Open
The Molecular Characterization Initiative (MCI), a key effort of the National Cancer Institute’s Childhood Cancer Data Initiative (CCDI), was launched in 2022 in collaboration with the Children’s Oncology Group (COG) to bring comprehensive…
View article: 22: A case of partial trisomy 13 not detected on prenatal cfDNA screen
22: A case of partial trisomy 13 not detected on prenatal cfDNA screen Open
View article: O09: Prevalence of germline variants in cancer predisposition genes in patients with pediatric solid tumors using paired tumor-normal exome sequencing
O09: Prevalence of germline variants in cancer predisposition genes in patients with pediatric solid tumors using paired tumor-normal exome sequencing Open
View article: P726: Provenance/identity testing in genome sequencing: A single institution’s experience
P726: Provenance/identity testing in genome sequencing: A single institution’s experience Open
View article: Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center Open
Despite the increasing availability of comprehensive next generation sequencing (NGS), its role in characterizing pediatric hematologic malignancies remains undefined. We describe findings from comprehensive genomic profiling of hematologi…
View article: Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing
Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing Open
PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy hav…
View article: Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined
Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined Open
Introduction In the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic condition…
View article: HGG-44. BRAINSTEM HIGH-GRADE ASTROCYTOMA WITH PILOID FEATURES (HGAP) WITH AN NTRK FUSION: A HISTOLOGICAL MIMICKER AND RARE PEDIATRIC BRAIN TUMOR
HGG-44. BRAINSTEM HIGH-GRADE ASTROCYTOMA WITH PILOID FEATURES (HGAP) WITH AN NTRK FUSION: A HISTOLOGICAL MIMICKER AND RARE PEDIATRIC BRAIN TUMOR Open
BACKGROUND HGAP is a recently defined rare glial neoplasm, whose classification requires pathognomonic epigenetic signatures. HGAP can arise anywhere within the central nervous system but most have been reported in the cerebellum (74%). Ra…
View article: Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes
Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes Open
The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular an…
View article: Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity Open
Background Cancers exhibit complex transcriptomes with aberrant splicing that induces isoform-level differential expression compared to non-diseased tissues. Transcriptomic profiling using short-read sequencing has utility in providing a c…
View article: Cover Image, Volume 50, Issue 1
Cover Image, Volume 50, Issue 1 Open
View article: Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing
Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing Open
Background Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarr…
View article: Germline susceptibility from broad genomic profiling of pediatric brain cancers
Germline susceptibility from broad genomic profiling of pediatric brain cancers Open
Background Identifying germline predisposition in CNS malignancies is of increasing clinical importance, as it contributes to diagnosis and prognosis, and determines aspects of treatment. The inclusion of germline testing has historically …
View article: WNT‐activated, <i>MYC</i> ‐amplified medulloblastoma displaying intratumoural heterogeneity
WNT‐activated, <i>MYC</i> ‐amplified medulloblastoma displaying intratumoural heterogeneity Open
Medulloblastomas (MB) are the most commonly occurring malignant brain tumour in childhood. The mainstay of therapy incorporates gross total resection followed by craniospinal irradiation (CSI) and chemotherapy. To guide post-surgical treat…
View article: A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition Open
Retinoblastoma is an ocular cancer associated with genomic variation in the RB1 gene. In individuals with bilateral retinoblastoma, a germline variant in RB1 is identified in virtually all cases. We describe herein an individual with bilat…
View article: Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions Open
Introduction/Aims Exome sequencing (ES) has proven to be a valuable diagnostic tool for neuromuscular disorders, which often pose a diagnostic challenge. The aims of this study were to investigate the clinical outcomes associated with util…
View article: Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations
Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations Open
Papillary hemangioma (PH) is a small, primarily dermal lesion occurring predominantly in the head and neck in both children and adults. Its signature characteristics are dilated thin-walled channels containing papillary clusters of mainly …
View article: Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements Open
Gene fusions are a form of structural rearrangement well established as driver events in pediatric and adult cancers. The identification of such events holds clinical significance in the refinement, prognostication, and provision of treatm…
View article: Enhancing the didactic learning experience for Laboratory Genetics and Genomics fellows through a multi‐institutional lecture series
Enhancing the didactic learning experience for Laboratory Genetics and Genomics fellows through a multi‐institutional lecture series Open
As a result of the pandemic, the traditional in‐person didactic lecture model was adapted to a virtual learning approach. Our Laboratory Genetics and Genomics fellowship program at Nationwide Children's hospital took advantage of this oppo…
View article: METB-04. THE MOLECULAR CHARACTERIZATION INITIATIVE (MCI): A CLINICAL AND GENOMIC RESOURCE FOR THE PEDIATRIC BRAIN TUMOR COMMUNITY
METB-04. THE MOLECULAR CHARACTERIZATION INITIATIVE (MCI): A CLINICAL AND GENOMIC RESOURCE FOR THE PEDIATRIC BRAIN TUMOR COMMUNITY Open
BACKGROUND The Molecular Characterization Initiative (MCI) sponsored by the National Cancer Institute (NCI) as part of the Childhood Cancer Data Initiative provides free clinical molecular testing with return of results to treating institu…
View article: LGG-14. TREATMENT OF TWO PEDIATRIC FGFR-ALTERED LOW-GRADE GLIONEURONAL TUMORS WITH MEK INHIBITION
LGG-14. TREATMENT OF TWO PEDIATRIC FGFR-ALTERED LOW-GRADE GLIONEURONAL TUMORS WITH MEK INHIBITION Open
Somatic alterations in the fibroblast growth factor receptor (FGFR) gene family (FGFR1/2/3) have been implicated in tumorigenesis across pediatric low-grade glioneuronal neoplasms and represent a potential therapeutic target. FGFR rearrang…
View article: A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer Open
Background Molecular profiling of the tumour immune microenvironment (TIME) has enabled the rational choice of immunotherapies in some adult cancers. In contrast, the TIME of paediatric cancers is relatively unexplored. We speculated that …
View article: CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience
CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience Open
Background: Approximately 10% of pediatric malignancies are secondary to germline alterations in cancer-predisposing genes. Checkpoint kinase 2 (CHEK2) germline loss-of-function variants have been reported in pediatric cancer patients, but…
View article: Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease)
Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease) Open
Monoclonal immunoglobulin (Ig) deposition diseases are classified as heavy chain deposition disease (HCDD); light chain deposition diseases (LCDD); and light and heavy chain deposition disease (LHCDD)—deposits of both light [kappa (κ) and …
View article: O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes*
O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes* Open
View article: P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows
P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows Open
View article: P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort
P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort Open
View article: PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma Open
View article: BIOM-49. A PILOT STUDY OF CEREBROSPINAL FLUID EXOSOMAL SMALL RNA-SEQUENCING IN PEDIATRIC MEDULLOBLASTOMA PATIENTS ON THE NEXT CONSORTIUM “HEAD START” 4 PROTOCOL
BIOM-49. A PILOT STUDY OF CEREBROSPINAL FLUID EXOSOMAL SMALL RNA-SEQUENCING IN PEDIATRIC MEDULLOBLASTOMA PATIENTS ON THE NEXT CONSORTIUM “HEAD START” 4 PROTOCOL Open
BACKGROUND Head Start 4 is a randomized clinical trial to determine whether dose-intensive tandem consolidation, compared with a single cycle, with autologous hematopoietic progenitor cell rescue provides a survival benefit in pediatric pa…