Table 10 Subtypes of myeloid neoplasms associated with germline predisposition.

From: The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms

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 varianta

• Germline TP53 P/LP varianta (Li-Fraumeni syndrome)

Myeloid neoplasms with germline predisposition and pre-existing platelet disorder

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

• Germline ANKRD26 P/LP varianta (Thrombocytopenia 2)

• Germline ETV6 P/LP varianta (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 disordersa,b)

• Down syndromea,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)

  1. aLymphoid neoplasms can also occur.
  2. bSee respective sections.
  3. cAtaxia is not always present.
  4. P pathogenic, LP likely pathogenic.
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