Polyclonal evolution of Fanconi anemia to MDS and AML revealed at single cell resolution

Table 1 Clinical characteristics of four FA patients

Patient	Sex	Age	Family history	Deformity	Blood Routine Test			Karyotype	Mutation Gene	Diagnose
Patient	Sex	Age	Family history	Deformity	WBC	HGB	PLT	Karyotype	Mutation Gene	Diagnose
P1001	Female	9	One sister with leukemia	Café au lait spots, micro-ophthalmia and abnormal thumbs	2.63	59	42	No	FANCA c.3163C > T; FANCA c.2222 + 1G > T splicing	FA-BMF
		16			3.32	58	52	46,XX,dup(1)(q12q32) [12]/46,idem,add(6)(p25) [8]	FANCA c.3163C > T; FANCA c.2222 + 1G > T splicing	FA-MDS
		18			2.81	75	38	46,XX,dup(1)(q21q32)[4]/46,XX,dup(1)(q21q32),add(6)(p22)		FA-MDS
		19			3.93	28	339	47,XX,dup(1)(q21q32), + 8,inc [15]		FA-AML
P1002	Male	10	No	Microcephaly, café au lait spots, micro-ophthalmia	3.05	109	41	46, XY [9]	FANCD2 c.2021 + 5G > A splicing FANCD2 c.3707G > A SLX4 c.5177C > T	FA-MDS
P1003	Female	9	No	Left kidney is absent and the right kidney is fused	3.01	102	38	46, XX [9]	FANCA c.C1303T FANCA c.C3031T	FA-MDS
		13		Left kidney is absent and the right kidney is fused	2.44	90	43		FANCA c.C1303T FANCA c.C3031T
P1004	Female	5	No	Café au lait spots, abnormal thumbs of right hand	1.8	94	33	46, XX [13]	FANCL c.1000 T > C FANCL c.691C > T	FA-MDS

ISSN: 2162-3619