A5015660850- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Childhood Cancer Survivors' Quality of Life
- DNA Repair Mechanisms
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Neuroblastoma Research and Treatments
- Acute Myeloid Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Folate and B Vitamins Research
- Immunodeficiency and Autoimmune Disorders
- Histone Deacetylase Inhibitors Research
- RNA modifications and cancer
- Blood groups and transfusion
- Parvovirus B19 Infection Studies
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Peptidase Inhibition and Analysis
- Renal and Vascular Pathologies
- Immune Cell Function and Interaction
- Genetic and rare skin diseases.
- Pain Mechanisms and Treatments
- Liver Disease Diagnosis and Treatment
- Acute Lymphoblastic Leukemia research
- Chronic Lymphocytic Leukemia Research
Mount Sinai Medical Center
2025
St. Jude Children's Research Hospital
2018-2024
Mount Sinai Hospital
2024
Manipal Academy of Higher Education
2022
Kasturba Medical College, Manipal
2022
University of Colorado Boulder
2010
Background: Genomic testing is an increasingly important technology within pediatric oncology that aids in cancer diagnosis, provides prognostic information, identifies therapeutic targets, and reveals underlying predisposition. However, nurses lack basic knowledge of genomics have limited self-assurance using genomic information their daily practice. This single-institution project was carried out at academic hospital the United States with aim to explore barriers achieving literacy for...
Pediatric oncology patients are increasingly recognized as having an underlying cancer predisposition syndrome (CPS). Surveillance is often recommended to detect new tumors at their earliest and most curable stages. Data on the effectiveness outcomes of surveillance for children with CPS limited.
Immunosuppressive therapy with horse antithymocyte globulin and cyclosporine currently remains the standard for children severe aplastic anemia (SAA) who lack human leukocyte antigen (HLA)-identical sibling. The thrombopoietin receptor agonist eltrombopag has been recently approved SAA patients 2 years older. However, there are limited data on its safety efficacy in pediatric cohorts.We conducted a retrospective study of ≤18 old consecutively diagnosed between 2000 2018. Patients received...
Clinical genomic sequencing of pediatric tumors is increasingly uncovering pathogenic variants in adult-onset cancer predisposition genes (aoCPG). Nevertheless, it remains poorly understood how often aoCPG are germline origin and whether they influence tumor molecular profiles and/or clinical care. In this study, we examined the prevalence, spectrum, impacts on features patient management at our institution.This a retrospective study 1,018 children with who underwent their tumors. Tumor data...
Diamond–Blackfan Anemia (DBA) is a rare polygenic disorder defined by congenital hypoplastic anemia with marked decrease or absence of bone marrow erythroid precursors. Identifying the specific genetic etiology important for counseling and clinical management. A 6-yr-old boy diagnosis DBA has been followed our pediatric hematology team since birth. His course includes transfusion-dependent progressive autoimmune cytopenias. Genetic testing failed to identify causative mutation in any...
Secondary myelodysplastic syndromes and acute myeloid leukemia (sMDS/AML) are rare in children adolescents have a dismal prognosis. The mainstay therapy is hematopoietic cell transplantation (HCT), but there has been no innovation cytoreductive regimens. CP X-351, fixed 5:1 molar ratio of liposomal cytarabine to daunorubicin, shown favorable safety efficacy elderly individuals with secondary AML relapsed de novo AML. We report the outcomes 7 young patients (6 newly diagnosed sMDS/AML 1...
Pathogenic variants in KITLG, a crucial protein involved pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation hyper- hypopigmentation, all of which are inherited an autosomal dominant manner.To describe the genotypic clinical spectrum biallelic KITLG-variants.We used genotype-first approach through GeneMatcher data sharing platform to collect individuals with KITLG reviewed literature for...
Abstract Background: Pediatric oncology patients are increasingly recognized as having an underlying cancer predisposing syndrome (CPS). For individuals diagnosed with a CPS, surveillance is often recommended to detect new tumors at their earliest and most curable stages. Screening heavily based on radiologic imaging, however data the effectiveness outcomes of limited. Methods: Patients clinical and/or molecular CPS diagnosis, including 274 children young adults 35 single specialty pediatric...
Pure red cell aplasia (PRCA) is characterized by isolated anemia and a marked reduction or absence of erythroid precursors in the bone marrow. Depending on underlying etiology, treatment may include immunomodulation cytotoxic agents, chronic blood transfusions, hematopoietic stem transplantation. Parvovirus B19 infection well-recognized cause transient PRCA, typically resolving with viral clearance. We report an unusual late relapse PRCA occurring years after parvovirus eradication,...
<p>Supplementary Tables 1-6</p>
<p>Supplementary Methods</p>
<p>Supplementary Figure 1. Signature exposures in 21 samples with aoCPG variants</p>
<p>Supplementary Figure 2. Molecular features of tumors harboring pathogenic aoCPG variants showing the full range additional somatic second hits.</p>
<p>Supplementary Figure 3. HRD Sum scores from ScarHRD analysis for biallelic, monoallelic, or no loss of HR genes in aoCPG and control samples.</p>
<p>Supplementary Figure 3. HRD Sum scores from ScarHRD analysis for biallelic, monoallelic, or no loss of HR genes in aoCPG and control samples.</p>
<p>Supplementary Methods</p>
<p>Supplementary Figure 2. Molecular features of tumors harboring pathogenic aoCPG variants showing the full range additional somatic second hits.</p>