TABLE 2.

CEBPA sequencing results.

	I.2	II.1	II.2	II.4 (proband)	II.5	III.1
Samples
Blood	c.[=];[=]	c.[350del];[=] a	c.[350del];[930_931insAAG] b	c.[350del];[=] c	c.[=];[=]
Bone marrow						c.[350del];[925_927dup]4
Urine	c.[=];[=]			c.[350del];[=]
Buccal swab	c.[=];[=]
Colic tumor				c.[350del];[=]
Kidney tumor				c.[350del];[=]
Interpretation
Germline variant	Not carrier	Carrier	Carrier	Carrier	Not carrier	Carrier
Somatic variant	n.a.	No sample available for somatic analysis	Second hit found in AML blood sample	No second hit in sampled solid tumors	n.a.	Second hit in AML bone marrow

CEBPA (NM_004364.5) variants detected in various samples collected from the pedigree confirmed: (1) the carrier status of relatives affected by acute myeloid leukemia (AML), and (2) the leukemogenesis mechanism (i.e., a molecular second hit in CEBPA gene, in AML samples). Urine and buccal swab were collected in I.2 to exclude somatic mosaicism of the familial (i.e., germline) CEBPA, variant.

^a Sequenced in the proband who received HSCT, from II.1.

^b Blood was sampled during AML. Somatic allele consequence is p.(Thr310_Gln311insLys) and allelic frequency was 0.24.

^c Corresponds to the genome of his sister (II.1 is the donor for the proband’s HSCT).

^d Bone marrow was sampled during AML. Somatic allele consequence is p.(Glu309dup) and allelic frequency was 0.42.

n.a.: not applicable, AML: acute myeloid leukemia, HSCT: hematopoietic stem cell transplantation.