The Department of Pathology seeks to provide the highest quality, most advanced testing in anatomic pathology and laboratory medicine by providing expertise, cutting edge technology, education and training, research and development.
The department actively participates in the research effort of Children’s Memorial Medical Center in the following ways:
Provision of core facilities and services: Anatomic Pathology services include examination of surgical specimens, histology, immunohistochemistry, molecular diagnostics, electron microscopy and cytopathology. Research Histology provides histology, sections from frozen and paraffin-embedded tissues, stained slides, and special stains and immunohistochemistry.
Provision of cutting edge technology: The Diagnostic Immunology Laboratory offers state-of-the-art local and outreach laboratory services for clinicians and investigators involved in the diagnosis, monitoring and evaluation of pediatric immunodeficiency, autoimmune and allergic diseases.
Collaborative research: A large part of the department’s mission is to contribute specialized expertise to research across the institution. Of note this year were studies on the PHOX2B gene by Lawrence Jennings and the Center for Autonomic Medicine in Pediatrics (CAMP). PHOX2B mutations result in congenital central hypoventilation syndrome (CCHS), which may be life-threatening without prompt diagnosis and intervention. The studies were aimed at refining the test for CCHS to improve diagnostics.
Independent research: The laboratory of Elizabeth Perlman focuses on defining biological markers that shed light on the pathogenesis and/or aid in the therapeutic stratification of pediatric renal tumors and pediatric sarcomas in collaboration with the Children’s Oncology Group (COG). Vasil Galat investigates the differentiation lineages and utilization of stem cells in the study of human disease.
Biomarkers can help identify vulnerable patients. Elizabeth Perlman led a study that found that Wilms Tumor gene mutations and loss of heterozygosity are associated with relapse in very low-risk Wilms tumor patients who do not receive chemotherapy.
A novel tool is effective in detecting HPeV infections. A group of researchers found that human parechovirus (HPeV) infection of the central nervous system occurs in very young infants in certain years during the summer and early fall. Xiaotian Zheng used real-time RT-PCR as an effective tool for rapid detection of these infections.
MFG-E8 is an essential protective factor for gut epithelial homeostasis. A research team from the Center for Intestinal and Liver Inflammation Research (CILIR) collaborated with Pauline Chou to study Milk fat globule-EGF factor 8 (MFG-E8). They hypothesize that administration of MFG-E8 may be beneficial in treating inflammatory bowel disease.
A new histological assessment system may be helpful in diagnosis. Pathologists participating in the Biliary Atresia Research Consortium (BARC) developed and evaluated a standardized system for histologic reporting of liver biopsies from infants with cholestasis, the impairment of bile flow due to obstruction in small bile ducts. Features of liver biopsies that might be used to diagnose and determine prognosis are identified.