Myeloid Neoplasms with Germline Predisposition

Pathology Clinical Conference

Wednesday January 17, 2018 at 12:00 PM

This grand round has already taken place.

University Hospital - Stony Brook, NY
January 17th, 2018
1.00 AMA PRA Category 1 Credit Hours


Myelodysplastic syndromes and acute myeloid leukemia present primarily as sporadic diseases and typically occur in older adults. However, it has become increasingly apparent that some cases occur in association with inherited or de novo germine mutations characterized by specific genetic and clinical findings. The most established of these disorders are those that occur in the setting of well-defined inherited syndromes that exhibit additional non-hematologic findings and present in childhood. These include bone marrow failure syndromes such as Fanconi anemia and telomere biology disorders such as dyskeratosis congenita. Germline mutations in CEBPA, RUNX1, and GATA2, among others have been described in association with myeloid neoplasms. Individuals with Down syndrome have an increased risk of leukemia, especially acute myeloid leukemia. Transient abnormal myelopoiesis associated with Down syndrome is a unique disorder of newborns with Down syndrome that presents with clinical and morphological findings indistinguishable from those of AML with blasts that show morphological and immunological features of megakaryocytic lineage. There cognition and diagnosis of myeloid malignancies that arise from a germline mutation is critical for the proper clinical management and long-term follow up of affected individuals.

Dates and Times

Start: 1/17/2018 12:00 PM
End: 1/17/2018 1:00 PM


1) Review 2016 revised WHO classification of acute myeloid leukemia and related precursor neoplasms, including myeloid proliferations associated with Down syndrome

2) Provide an overview of practical aspects of morphological examination and multiparameter flow cytometry in diagnosis and management of acute leukemias

3) Discuss the clinical importance of recognizing and diagnosing myeloid neoplasms with germline predisposition


  • Dr. William Gonzalez Marques
    • Myeloid Neoplasms with Germline Predisposition


University Hospital
Level 2, Room 749
Stony Brook, NY 11794


The School of Medicine, State University of New York at Stony Brook, is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The School of Medicine, State University of New York at Stony Brook designates this live activity for a maximum of 1.00 AMA PRA Category 1 Credit(s) . Physicians should only claim the credit commensurate with the extent of their participation in the activity.