Table 1. Risk of myeloid malignancy and... | American Society of Hematology

Table 1.

Risk of myeloid malignancy and age-related clonal hematopoiesis in inherited BMF/MDS syndromes

	Incidence of MDS/AML	Peak age of MDS/AML diagnosis	Prevalence of CHIP in carriers without hematologic malignancy
SAMD9/9L syndromes	Moderate^*	Early childhood	Absent
Fanconi anemia	30%-40%	Childhood	^**
GATA2 deficiency	75%	Late childhood through young adult	20%-50%
Shwachman-Diamond syndrome	10%-30%	Late childhood through young adult	60% TP53 Other CHIP <10%
RUNX1-FPDMM	20%-40%	Any age	25%-60%
Short telomere syndromes	15%	Adults >50 years	30%
Germline DDX41	40%-50%	Adults >60 years	Rare

	Incidence of MDS/AML	Peak age of MDS/AML diagnosis	Prevalence of CHIP in carriers without hematologic malignancy
SAMD9/9L syndromes	Moderate^*	Early childhood	Absent
Fanconi anemia	30%-40%	Childhood	^**
GATA2 deficiency	75%	Late childhood through young adult	20%-50%
Shwachman-Diamond syndrome	10%-30%	Late childhood through young adult	60% TP53 Other CHIP <10%
RUNX1-FPDMM	20%-40%	Any age	25%-60%
Short telomere syndromes	15%	Adults >50 years	30%
Germline DDX41	40%-50%	Adults >60 years	Rare

Lack of cohort studies limits definition of MDS/AML prevalence in SAMD9/9L syndromes.

Large-scale NGS studies in individuals with Fanconi anemia without MDS/AML have not been published.

RUNX1-FPDMM, RUNX1 familial platelet disorder with associated myeloid malignancies.