{"id":27098,"date":"2024-05-26T12:07:02","date_gmt":"2024-05-26T10:07:02","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27098"},"modified":"2025-08-26T10:21:24","modified_gmt":"2025-08-26T08:21:24","slug":"cebpa-deficiency","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/cebpa-deficiency\/","title":{"rendered":"CEBPA Deficiency"},"content":{"rendered":"

CEBPA Deficiency \u2013\u00a0Definition<\/h2><\/div>
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CEBPA deficiency or CEBPA-associated familial acute myeloid leukemia (OMIM #601626, #116897) is a leukemia predisposition syndrome caused by a heterozygous pathogenic germline variant of the CEBPA <\/em>gene. Typically, acute myeloid leukemia (AML) with an underlying pathogenic variant CEBPA<\/em>\u00a0occurs at an earlier stage than sporadic AML. In addition, several family members are often affected.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

CEBPA-associated familial AML<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

CEBPA<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

C\/EBP\u03b1 (CCAAT\/enhancer binding protein-alpha)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Transcription factor with a key role in granulocyte maturation<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

Presumably 5-10% of presumably sporadic CEBPA-associated AML have a pathogenic CEBPA germline variant.<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

A pathogenic germline variant is typically a frameshift mutation in the region of the CEBPA gene coding for the N-terminal of the C\/EBP\u03b1 protein, whereas somatic mutations are typically localized in the region coding for the C-terminal.
\nHereditary pathogenic variant C-terminal occur less frequently and show lower penetrance.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

for AML >80%<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>