A5039374050- Congenital Diaphragmatic Hernia Studies
- Congenital Anomalies and Fetal Surgery
- Tracheal and airway disorders
- Neonatal Respiratory Health Research
- Renal and related cancers
- Sarcoma Diagnosis and Treatment
- Medical Imaging and Pathology Studies
- Neuroendocrine Tumor Research Advances
- Soft tissue tumor case studies
- Child and Adolescent Health
- Genomics and Rare Diseases
- Metastasis and carcinoma case studies
- Glioma Diagnosis and Treatment
- Tumors and Oncological Cases
- Testicular diseases and treatments
- SARS-CoV-2 and COVID-19 Research
- Neuroblastoma Research and Treatments
- Bone Tumor Diagnosis and Treatments
- Head and Neck Surgical Oncology
- Urinary and Genital Oncology Studies
- Cancer Diagnosis and Treatment
- Ovarian cancer diagnosis and treatment
- Chromatin Remodeling and Cancer
- IgG4-Related and Inflammatory Diseases
- COVID-19 Clinical Research Studies
Washington University in St. Louis
2000-2025
St. Louis Children's Hospital
2000-2024
Washington University Medical Center
2004-2024
National Marrow Donor Program
2021-2024
Children's Minnesota
2006-2024
Animal and Plant Health Inspection Service
2023
Children's National
2013-2022
George Washington University
2012-2022
Children's Healthcare of Atlanta
2021
Emory University
2021
Pleuropulmonary blastoma (PPB) is a rare pediatric lung tumor that often part of an inherited cancer syndrome. PPBs consist mesenchymal cells are susceptible to malignant transformation and cysts lined by epithelial cells. In subset patients, overgrowth the leads sarcoma formation. Here, we show 11 multiplex PPB families harbor heterozygous germline mutations in DICER1, gene encoding endoribonuclease critical generation small noncoding regulatory RNAs. Expression DICER1 protein was...
Inflammatory myofibroblastic tumor (IMT) is an uncommon mesenchymal neoplasm with a variable histologic appearance that may mimic other spindle cell processes, particularly nodular fasciitis, desmoid tumor, and in intra-abdominal locations, gastrointestinal stromal tumor. Recently, gene fusions involving ALK at chromosome 2p23 have been described IMTs. The resultant protein overexpression the component of these tumors detectable by immunohistochemistry. We examined 73 IMTs, 20 cases 15...
BACKGROUND Pleuropulmonary blastoma (PPB) has 3 subtypes on a tumor progression pathway ranging from type I (cystic) to II (cystic/solid) and III (completely solid). A germline mutation in DICER1 is the genetic cause majority of PPB cases. METHODS Patients confirmed have by central pathology review were included, their clinical characteristics outcomes reported. Germline mutations sought with Sanger sequencing. RESULTS There 435 cases, 350 cases be PPB; 85 (20%) another entity. Thirty‐three...
Pediatric low-grade gliomas (PLGGs) are among the most common solid tumors in children but, apart from BRAF kinase mutations or duplications specific subclasses, few genetic driver events known. Diffuse PLGGs comprise a set of uncommon subtypes that exhibit invasive growth and therefore especially challenging clinically. We performed high-resolution copy-number analysis on 44 formalin-fixed, paraffin-embedded diffuse to identify recurrent alterations. exhibited fewer such alterations than...
The pathogenesis of cystic nephroma the kidney has interested pathologists for over 50 years. Emerging from its initial designation as a type unilateral multilocular cyst, been considered either developmental abnormality or neoplasm both. Many have viewed benign end pathologic spectrum with partially differentiated nephroblastoma and Wilms tumor, whereas others it mixed epithelial stromal tumor. We hypothesize that nephroma, like pleuropulmonary blastoma in lung, represents abnormal renal...
Abstract Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal proliferation of transformed myofibroblasts, with prominent inflammatory cell component, that can mimic other spindle processes such as nodular fasciitis, desmoid tumor, and gastrointestinal stromal tumor. Genetic analyses have recently demonstrated rearrangements anaplastic lymphoma kinase ( ALK ), located at 2p23, in subset IMTs. Molecular characterizations identified fusions involving tropomyosin‐3 ‐4 TPM‐3 the...
Pleuropulmonary blastoma is a rare childhood malignancy of lung mesenchymal cells that can remain dormant as epithelial cysts or progress to high-grade sarcoma. Predisposing germline loss-of-function DICER1 variants have been described. We sought uncover additional contributors through whole exome sequencing 15 tumor/normal pairs, followed by targeted resequencing, miRNA analysis and immunohistochemical tumors. In addition frequent biallelic loss TP53 mutations NRAS BRAF in some cases, each...
Abstract Embryonal rhabdomyosarcoma (ERMS) is the most common childhood sarcoma and a component of familial pleuropulmonary blastoma (PPB)‐predisposition syndrome. Using PPB model, we hypothesized that DICER1 mutations would be found in sporadic forms ERMS. Blood samples from four children with ERMS, 52 ERMS tumors were tested for mutations. Germline all patients 2 (3.8%) had somatic Our findings confirm pathogenetic relationship between suggesting may result abnormal miRNA regulation....
Abstract Context: The risk of thyroid cancer and multinodular goiter (MNG) in DICER1 syndrome, a rare tumor-predisposition disorder, is unknown. Objective: To quantify the MNG individuals with syndrome. Design: Family-based cohort study. Setting: National Institutes Health (NIH) Clinical Center (CC). Participants: Cancer Institute syndrome included 145 germline mutation 135 family controls from 48 families. Interventions: Each individual completed detailed medical history questionnaire. A...
<ns4:p>Pleuropulmonary blastoma (PPB) is the most frequent pediatric lung tumor and often first indication of a pleiotropic cancer predisposition, <ns4:italic>DICER1</ns4:italic> syndrome, comprising range other individually rare, benign malignant tumors childhood early adulthood. The genetics <ns4:italic>DICER1</ns4:italic>-associated tumorigenesis are unusual in that typically bear neomorphic missense mutations at one five specific “hotspot” codons within RNase IIIb domain...
Purpose DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder caused by pathogenic germline variants in DICER1. We sought to quantify risk, hazard rates, and the probability of neoplasm incidence accounting for competing risks (“cumulative incidence”) neoplasms (benign malignant) standardized ratios malignant tumors individuals with variation. Patients Methods combined data from three large cohorts patients who carry variation To reduce ascertainment bias, we...
DICER1 germline mutation carriers have an increased predisposition to cancer, such as pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT), a high prevalence of multinodular goiter (MNG). Although differentiated thyroid carcinoma (DTC) has been reported in some with PPB treated chemotherapy, the association DTC mutations is not well established. We report family familial without history chemotherapy. A 12-year-old female (patient A) her 14-year-old sister B) presented MNG....
Ovarian sex cord-stromal tumors are clinically significant heterogeneous that include several pathologic types. These often found in adolescents and young adults can present with hormonal manifestations as well signs symptoms of a pelvic mass. Serum tumor markers may assist preoperative diagnosis surveillance. Several subtypes associated genetic predisposition, including those observed patients Peutz-Jegher syndrome. Recent studies have elucidated the relationship between Sertoli-Leydig cell...