SOCIETY FOR PEDIATRIC PATHOLOGY FALL 2012 SYMPOSIUM

"MOLECULAR DIAGNOSTICS IN PEDIATRIC PATHOLOGY — BEYOND SMALL BLUE CELL TUMORS"

Synopsis

The 2012 SPP Fall Symposium will provide an update on molecular diagnostics in non- neoplastic pediatric pathology, with emphasis on molecular approaches to prenatal diagnosis, pediatric diseases related to copy number variations and indications for whole exome sequencing, advances in molecular respiratory viral testing, and emerging insights of the interplay between the human host and microbial colonizers.

The 2012 SPP Fall Symposium will take place in the Houston Marriott at the Texas Medical Center Hotel the morning of Saturday, October 13, 2012.

Needs Assessment:

Pathologists encounter opportunities for molecular diagnostics in all sectors of the anatomic and clinical laboratory. The pathologist frequently is entrusted with selecting the appropriate tissue for testing, interpreting the result, and integrating the data into a final diagnosis. The utility and advances of molecular diagnostics in pediatric tumors are frequently disseminated in publications and symposia; however, non-neoplastic applications have been less well explored. Technical advances allowing for genome wide interrogation (both human and microbial) have uncovered new mechanisms and pathways for human disease. As molecular diagnostic applications grow and intensify in complexity, many pathologists struggle to remain current in this rapidly changing arena. Pediatric pathologists are particularly vulnerable, as they try to incorporate these advances into a broad practice encompassing tumor biology, genetics, metabolic and neurodegenerative disorders, and infectious diseases.

The Banbury report "call to action" items include educating pathologists in the use of genetic data and defining core competencies in genomics and personalized medicine for all ACGME approved residency programs. Since the completion of the Human Genome Project in 2003, advances in DNA technology and automation have made whole exome sequencing a reality. Genomic alterations, including gains and losses of the genome, are implicated in various diseases, including neurologic and intellectual disorders, accounting for significant morbidity and mortality in the pediatric population.

In stillbirths and infants with congenital anomalies, a genetic basis is frequently suspected; however, prenatal genetic testing may not have been performed or may have detected a normal karyotype. Based on the pattern of malformations, the pathologist may request additional tests (single gene testing, array comparative genomic hybridization or SNP array studies). Knowledge of the strengths and limitations of each testing modality guide the pathologist in correct test selection to achieve a diagnosis with implications for the family and future pregnancies.

Infectious disease related illnesses are among the most common reasons for pediatric hospitalization in infancy and early childhood, with the vast majority being acute respiratory infections due to respiratory viruses. Therefore, it is not unexpected that infectious disease testing is currently the largest application of molecular diagnostics. Following the 2009 H1N1 influenza A pandemic outbreak, the number of centers using molecular methods for respiratory virus detection more than doubled. Molecular testing results in rapid and accurate diagnosis, initiation of appropriate antiviral therapy, and improved patient care. Examining the evolution of laboratory diagnosis for influenza and other respiratory infections enables the pathologist to initiate testing strategies when faced with the next outbreak or pandemic.

Bacteria, like viruses, have a small genome size, and bacterial identification via whole bacterial genome sequencing will likely be feasible in the in-hospital microbiology laboratory. Molecular applications can also determine the collective genomes of bacterial communities in various body sites (microbiome). Alterations of the human microbiome have been implicated in pediatric diseases such as necrotizing enterocolitis, irritable bowel syndrome, and inflammatory bowel disease. As the field of metagenomics grows, pathologist will need to incorporate both metagenomic and histologic data into meaningful diagnoses and treatment recommendations.

In summary, a symposium dedicated to advances in molecular testing will prepare pathologists for their expanding role in genomic-era pathology as consultants to clinicians and families, ensuring timely and appropriate patient care.

Symposium Objectives:

At the conclusion of the symposium, participants will be able to:

  1. Apply the various molecular diagnostic modalities available for prenatal screening and list the limitations of such tests with regards to single gene disorders, imprinting disorders, and chromosomal deletions/gains.
  2. Describe structural variation in the human genome and how alterations predict mechanisms in human disease.
  3. Identify conditions that best utilize whole exome sequencing.
  4. Define the "human microbiome" and describe the interplay of the human host and microbiome in pediatric disease.
  5. Evaluate rapid molecular diagnosis in infectious disease testing and its impact on therapeutic interventions.

COG Update

Protocols for treatment of pediatric malignancies and the requirements for submission of pathologic and biologic specimens are continuously evolving as knowledge of these diseases grows and new technologies emerge. While the vast majority of pediatric pathologists, as well as many general pathologists, are responsible for the appropriate triage and processing of biopsies and resections for COG protocols, only a minority attend COG meetings and/or are actively involved as investigators on COG protocols. This disparity leads to gaps in the pathologist's understanding of protocol requirements and/or the scientific basis for specific requirements. The "COG Update" was implemented and serves to inform participants of new requirements in COG protocols and the emerging scientific data driving those changes. The "COG Update" addresses the various disease groups on a rotating basis. The disease group to be presented at a particular meeting is chosen by the COG Pathology Chair in consultation with the Education Committee based on the extent and significance of new information related to that disease group and/or the elapsed time since that disease group was last addressed in a "COG Update." The "COG Update" is expected to bridge gaps in knowledge and understanding of the evolving protocol requirements and the scientific basis for those requirements, thereby facilitating the appropriate triage and handling of these clinical specimens.

Overall Program Objectives

Upon completion of this meeting, participants should be able to:

  1. Through the platform and poster scientific sessions, host a forum for the presentation and discussion of recent research related to the biology, characterization and/or diagnosis of pediatric disease.
  2. Through the Symposium, provide an update on molecular diagnostics in non-neoplastic pediatric pathology, with emphasis on molecular approaches to prenatal diagnosis, pediatric diseases related to copy number variations and indications for whole exome sequencing, advances in molecular respiratory viral testing, and emerging insights of the interplay between the human host and microbial colonizers.
  3. Through the COG Update, inform participants of new requirements in COG protocols and the emerging scientific data driving those changes, and thereby facilitate the appropriate triage and handling of these clinical specimens. The topic of the 2012 "COG Update" is "Pediatric Liver Tumors".

2012 Lotte Strauss Lecture

Lecture Objectives

At the conclusion of the lecture, participants will be able to:

  1. Classify the major cartilage tumor syndromes based on their unique clinical, pathologic, and genetic features.
  2. Explain how genome-level analyses can facilitate genetic discovery of hereditary and sporadic childhood diseases.
  3. Describe the genetic differences (transmission, testing, tumorigenesis) between cartilage tumor syndromes that are inherited in autosomal dominant form (multiple osteochondoma syndrome, metachondromatosis) and those that result from de novo somatic mosaicism (Ollier disease, Maffucci syndrome).

CERTIFICATE OF CME/SAM CREDIT OR PARTICIPATION

Accreditation Statement
The Society for Pediatric Pathology is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

AMA Credit Designation Statement
The Society for Pediatric Pathology designates this live activity for a maximum of 9.75 AMA PRA Category 1 Credit(s)™. Physicians should only claim the credit commensurate with the extent of their participation in the activity.

International Physicians
The American Medical Association has determined that physicians not licensed in the US who participate in this CME activity are eligible for AMA PRA Category 1 Credit(s)™.

Health Professionals
Health Professional participants (including residents and fellows-in-training) may claim hours to receive a Certificate of Participation for an activity designated for AMA PRA Category 1 Credit(s)™.

CME Credits
Certificates of continuing medical education AMA PRA Category 1 Credit(s)™ will be issued through the Society for Pediatric Pathology. CME credits will only be awarded after completion of an online evaluation form.

Self-Assessment Module Credits
The SPP is accredited by the American Board of Pathology to offer Self-Assessment Module (SAM) credits for the purpose of meeting the American Board of Pathology requirements for Maintenance of Certification. Registrants must take and pass the post-test in order to claim SAMs credit(s). SAM credits are offered for the fall meeting and perinatal symposia only.









Chief/Director
Pathologist
Fellowship