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Condition report · Cancer

Inherited Leukemia and MDS Risk

Inherited variants in genes such as DDX41, GATA2, SAMD9 and SAMD9L raise the risk of myelodysplastic syndrome and acute myeloid leukaemia.

A condition report looks for rare variants known to cause the conditions it covers.

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The 5 conditions we analyse

DDX41-related haematologic malignancy predisposition

Autosomal dominant

DDX41 variants that raise the risk of myelodysplastic syndrome and acute myeloid leukaemia, usually in later adulthood.

What a diagnosis changes

Blood-count monitoring, and testing of related donors before a stem-cell transplant.

Genes analysed

Also known as

DDX41 hereditary neoplastic syndrome; hereditary neoplastic syndrome caused by mutation in DDX41; MPLPF; myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to

MONDO:0014809OMIM 616871Orphanet 488647MedGen 895780

GATA2 deficiency with susceptibility to MDS/AML

Autosomal dominant

GATA2 variants causing low monocyte, B-cell and NK-cell counts, infections, lymphoedema and a high risk of myelodysplastic syndrome and leukaemia.

What a diagnosis changes

Monitoring of blood counts and bone marrow, infection prevention, and early consideration of stem-cell transplant.

Genes analysed

Also known as

GATA2 deficiency; GATA2 deficiency/MonoMac syndrome

Includes 2 related subtypes ↓
  • deafness-lymphedema-leukemia syndrome
  • monocytopenia with susceptibility to infections
MONDO:0042982

SAMD9-related spectrum and myeloid neoplasm risk

Autosomal dominant

SAMD9 variants linked to low blood counts, loss of chromosome 7 in the bone marrow, and myelodysplastic syndrome.

What a diagnosis changes

Blood-count and bone-marrow monitoring.

Genes analysed

Also known as

MIRAGE syndrome susceptibility, SAMD9 form

MONDO:0100628

SAMD9L-related spectrum and myeloid neoplasm risk

Autosomal dominant

SAMD9L variants linked to low blood counts, balance problems (ataxia), loss of chromosome 7 in the bone marrow, and myelodysplastic syndrome.

What a diagnosis changes

Blood-count and bone-marrow monitoring.

Genes analysed

MONDO:1060111

Monosomy 7 myelodysplasia and leukaemia syndrome 2

Autosomal dominant

Familial predisposition to myelodysplastic syndrome and leukaemia with loss of chromosome 7 in the bone marrow.

What a diagnosis changes

Blood-count and bone-marrow monitoring.

Genes analysed

Also known as

M7MLS2

MONDO:0030801OMIM 619041MedGen 1762901

Limitations

  • A test on blood or saliva can pick up variants acquired in blood cells with age (clonal haematopoiesis), which can look like inherited variants.
  • In SAMD9 and SAMD9L carriers, blood cells can lose the variant over time, so it may be missed in a blood or saliva sample.

Other cancer conditions

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