Table 2. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
AYA/pediatric AML	Management of younger persons to be directed by relevant specialist teams (e.g., AYA or pediatric hematologists)
AML / Assessment for suitable HSCT donor	HLA typing & virology tests (hepatitis A, B, C, & HIV)
CEBPA site-specific testing of family members at risk using either of the following: Buccal, salivary, or skin DNA Peripheral blood DNA in persons w/no history of preceding hematologic disease & normal CBC	Family members w/o an inherited CEBPA pathogenic variant may be offered HLA typing to assess their compatibility for stem cell donation to their affected relative.
Fertility	Provide info re oocyte & sperm cryopreservation to persons of childbearing potential Women: negative pregnancy test prior to commencing therapy
CNS AML	LP if symptoms suggest CNS disease.	The timing of LP in AML is controversial.
Treatment- related heart disease	Cardiac scan in persons w/personal history of (or signs & symptoms suspicious for) heart disease & in those who have received previous anthracycline therapy
Genetic counseling	By genetics professionals ¹ Obtain a detailed family history & identify relatives who are obligate heterozygotes or potential heterozygotes for a CEBPA pathogenic variant & thus at risk for CEBPA-assoc familial AML.	To inform affected persons & their families re nature, MOI, & implications of CEBPA-assoc familial AML in facilitate medical & personal decision making
Family support/ resources	Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.

System/Concern

Evaluation

Comment

AYA/pediatric
AML

Management of younger persons to be directed by relevant specialist teams (e.g., AYA or pediatric hematologists)

AML /
Assessment
for suitable
HSCT donor

HLA typing & virology tests (hepatitis A, B, C, & HIV)

CEBPA site-specific testing of family members at risk using either of the following:

Buccal, salivary, or skin DNA
Peripheral blood DNA in persons w/no history of preceding hematologic disease & normal CBC

Family members w/o an inherited CEBPA pathogenic variant may be offered HLA typing to assess their compatibility for stem cell donation to their affected relative.

Fertility

Provide info re oocyte & sperm cryopreservation to persons of childbearing potential
Women: negative pregnancy test prior to commencing therapy

CNS AML

LP if symptoms suggest CNS disease.

The timing of LP in AML is controversial.

Treatment-
related heart
disease

Cardiac scan in persons w/personal history of (or signs & symptoms suspicious for) heart disease & in those who have received previous anthracycline therapy

Genetic
counseling

By genetics professionals ¹
Obtain a detailed family history & identify relatives who are obligate heterozygotes or potential heterozygotes for a CEBPA pathogenic variant & thus at risk for CEBPA-assoc familial AML.

To inform affected persons & their families re nature, MOI, & implications of CEBPA-assoc familial AML in facilitate medical & personal decision making

Family support/
resources

Assess:

Use of community or online resources such as Parent to Parent;
Need for social work involvement for parental support;
Need for home nursing referral.

From: CEBPA-Associated Familial Acute Myeloid Leukemia (AML)

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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