. 2023 May 24;142(7):643–657. doi: 10.1182/blood.2022019304

Table 3.

Characteristics of patients carrying P/LP heterozygous germ line variants in genes involved in autosomal recessive disorders

Patient ID	Age/sex	Germ line gene mutation	VAF myeloid	VAF germ line	Congenital S/D	Somatic mutation		Cytogenetics (% abnormal metaphases)	Hb g/dl	ANC, ×10⁹/L	Plt, ×10⁹/L	Diagnosis	Extrahematologic phenotype	Family history of cancer hem/solid
Patient ID	Age/sex	Germ line gene mutation	VAF myeloid	VAF germ line	Congenital S/D	Mutated gene	VAF	Cytogenetics (% abnormal metaphases)	Hb g/dl	ANC, ×10⁹/L	Plt, ×10⁹/L	Diagnosis	Extrahematologic phenotype	Family history of cancer hem/solid
PV1410	70/M	CSF3R^∗ p.(P146fs)	0.43	0.46	SCN	JAK2 U2AF1 ZRSR2	0.10 0.12 0.15	Failed	11.6	1.10	290	MDS/MPN	+	−/−
PV1515	45/F	FANCD1 (BRCA2)^∗ p.(Y2624C)	0.44	0.48	FA/HBOC	WT		Failed	13.8	1.35	129	ICUS	−	−/−
PV1949	25/M	FANCD1 (BRCA2)^∗ p.(Y3226fs)	0.46	0.52	FA/HBOC	WT		46XY	15.6	2.7	131	ICUS	+	−/−
PV2480	25/M	DNAJC21 p.(Ter577fs)	0.53	0.50	SDS	WT		46XY	13.2	0.57	151	ICUS	+	−/−
PV30044	50/M	FANCD2 p.(P679fs)	0.48	0.45	FA	DNMT3A	0.10	46XY	6	1.12	44	AML	−	+/−
PV1174	38/F	SBDS c.258+2T>C^†	0.40	0.48	SDS	WT		46XX	14.6	1.8	144	ICUS	−	−/-
PV1338	49/M	SBDS c.258+2T>C^†	0.40	0.48	SDS	ASXL1 NRAS WT1 WT1	0.43 0.04 0.36 0.03	46XY	10.6	0.81	66	AML	+	−/-
PV2281	70/F	SBDS c.258+2T>C^†	0.41	0.40	SDS	TET2	0.38	46XX; del(5q) (60)	11.6	1.24	173	MDS del(5q)	+	−/−
PV2346	47/M	SBDS c.258+2T>C^†	0.41	0.41	SDS	PHF6 SRSF2	0.93 0.47	46XY	12.5	6.4	35	CCUS	−	−/−
PV2360	47/M	SBDS c.258+2T>C^†	0.40	0.40	SDS	WT		46XY	12.8	2.5	209	ICUS	−	−/+

ANC, absolute neutrophil count; F, female; FA/HBOC, Fanconi anemia/hereditary breast and ovarian cancer syndrome; Hb, hemoglobin concentration; Hem, hematopoietic; M, male; MDS/MPN, MDS/myeloproliferative neoplasm; MDS del(5q), myelodysplastic syndrome with deletion of chromosome 5q; Plt, platelet count; SCN, severe congenital neutropenia; S/D, syndrome/disorder; SDS, Shwachman-Diamond syndrome; WT, wild-type; VAF, variant allele frequency.

^∗

Heterozygous CSF3R and FANCD1 (BRCA2) variants were described, associated with predisposition to hematologic malignancies.³⁴^,³⁵^,³⁶

^†

Manual revision of the BAM files on the SBDS gene and its pseudogene SBDSP1 confirmed the absence of the variant p.(K62∗) in patients heterozygous for c.258+2T>C.