Myeloid neoplasms and molecular genetic alterations (Germline vs Somatic) that characterize specific entities in pediatric patients

Title : Myeloid neoplasms and molecular genetic alterations (Germline vs Somatic) that characterize specific entities in pediatric patients

Abstract:

Myeloid neoplasms are less common in pediatric patients than in adults. Some entities preferentially occur in childhood, such as juvenile myelomonocytic leukemia (JMML) or certain types of acute myeloid leukemia (AML). AML is the most frequent in childhood from myeloid neoplasms when compared to myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS), or therapy-related myeloid neoplasms which are considered rare. Diagnosis and classification of myeloid neoplasms have significantly changed in 2022 with the newly proposed WHO 5th edition and International Consensus Classification (ICC) classification (subsequently referred to as WHO 2022 and ICC 2022 classification, respectively).

The goal of this presentation will be to discuss the importance of investigation at the molecular level (germline vs. somatic), and the impact of these findings on treatment, follow-up testing, and prognosis. The short pediatric case series that will be presented belongs to the following sections: MPN, therapy-related myeloid neoplasm, and AML. Each section will have a clinical presentation, morphology, relevant laboratory findings, and genetic findings (cytogenetic analysis as well as comprehensive next-generation sequencing which includes analysis of RNA, DNA and copy number variants). Integrating morphologic, clinical, and genetic data are the key for making an accurate diagnosis. Additionally, relevant case-related differences in terminology and criteria needed for the classification of myeloid neoplasms per WHO 2022 vs. ICC 2022 classification will be discussed.

Biography:

Dr. Aida Richardson MD PhD graduated from Eberhard Karls University of Tübingen, Germany and completed her postdoctoral research fellowship at Washington University School of Medicine, Saint Louis, USA. She is board-certified in anatomic and clinical pathology, hematopathology and molecular genetic pathology. She is an Assistant Professor in the Department of Pathology at Feinberg School of Medicine, Northwestern University. As a pathologist and associate laboratory director, she provides clinical services for hematopathology and molecular genetic pathology at Ann & Robert H. Lurie Children's Hospital of Chicago. Her research interest is focused on further genetic characterization of pediatric solid and hematologic malignancy.