. 2022 Jun 22;36(7):1703–1719. doi: 10.1038/s41375-022-01613-1

Table 10.

Subtypes of myeloid neoplasms associated with germline predisposition.

Myeloid neoplasms with germline predisposition without a pre-existing platelet disorder or organ dysfunction

• Germline CEBPA P/LP variant (CEBPA-associated familial AML)

• Germline DDX41 P/LP variant^a

• Germline TP53 P/LP variant^a (Li-Fraumeni syndrome)

Myeloid neoplasms with germline predisposition and pre-existing platelet disorder

• Germline RUNX1 P/LP variant^a (familial platelet disorder with associated myeloid malignancy, FPD-MM)

• Germline ANKRD26 P/LP variant^a (Thrombocytopenia 2)

• Germline ETV6 P/LP variant^a (Thrombocytopenia 5)

Myeloid neoplasms with germline predisposition and potential organ dysfunction

• Germline GATA2 P/LP variant (GATA2-deficiency)

• Bone marrow failure syndromes

◦ Severe congenital neutropenia (SCN)

◦ Shwachman-Diamond syndrome (SDS)

◦ Fanconi anaemia (FA)

• Telomere biology disorders

• RASopathies (Neurofibromatosis type 1, CBL syndrome, Noonan syndrome or Noonan syndrome-like disorders^a,b)

• Down syndrome^a,b

• Germline SAMD9 P/LP variant (MIRAGE Syndrome)

• Germline SAMD9L P/LP variant (SAMD9L-related Ataxia Pancytopenia Syndrome)^c

• Biallelic germline BLM P/LP variant (Bloom syndrome)

^aLymphoid neoplasms can also occur.

^bSee respective sections.

^cAtaxia is not always present.

P pathogenic, LP likely pathogenic.