Friday, September 13, 2024

What is transient abnormal myeloiesis in Down's?

 Transient abnormal myelopoiesis (previously transient myeloproliferative disorder) is a clonal hematopoietic disorder unique to patients with trisomy 21.

GATA 1 mutation is the key feature. PB blasts usually between 10-30%.

TAM resolves in 80% spontaneously.

When the cells acquire additional mutations-->Down's associated leukemia--> megakaryoblastic leukemia that is distinct from the one occurring in non-DS patients

What is JMML? Pathway affected?

Juvenile myelomonocytic leukemia (JMML) is a clonal hematopoietic disorder characterized by excessive proliferation of granulocytic and monocytic lineage cells.

RAS pathway is key.

ASH ed book 2023

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Primary CNS lymphoma

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