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Table 9 Hematologic/myeloid neoplasms with germline predisposition

From: A practical approach on the classifications of myeloid neoplasms and acute leukemia: WHO and ICC

WHO-HAEM5

ICC

Entities included in both WHO-HAEM5 and ICC

Differences between WHO-HAEM5 and ICC

Myeloid neoplasms with germline predisposition without a preexisting

platelet disorder or organ dysfunction

Hematologic neoplasms with germline predisposition without a constitutional disorder affecting multiple organ systems

Germline CEBPA, DDX41 and TP53 mutations

None

Myeloid neoplasms with germline predisposition and pre-existing

platelet disorder

Hematologic neoplasms with germline predisposition

associated with a constitutional platelet disorder

Germline RUNX1, ANKRD26 and ETV6 mutations

None

Myeloid neoplasms with germline predisposition and potential organ dysfunction

Hematologic neoplasms with germline predisposition

associated with a constitutional disorder affecting multiple

organ systems

Germline GATA2

Germline SAMD9/SAMD9L

Bone marrow failure syndromes

Down syndrome

RASopathies (JMML with NF1, CBL)

WHO (not ICC): Germline BLM mutations

ICC (not WHO): Diamond-Blackfan anemia

Not included

Acute lymphoblastic leukemia with germline predisposition

 

ICC group includes germline PAX5 and IKZF1 mutations.