Myeloid Neoplasms with Germline Predisposition

This grand round has already taken place.

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.

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Please contact the Grand Round coordinator listed below:

Chanel Jones
Department: Pathology
Phone: (631) 444-3156
Email: chanel.jones@stonybrookmedicine.edu