Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel

BMC Medical Genomics

Table 1 Study Sample demographics and clinical data

Sample	MPN subtype	Age (years)	Sex	Ethnicity	Hb (g/dL)	WBC (× 10⁹/L)	Platelet (× 10⁹/L)	HSM	Constitutional symptoms	Smoker	NGS-detected variants (VAF%)
01	ET	30	M	Malay	17.1	7.6	1730	No	No	No	CALR p.Lys385Ilefs46 (35.2%) CALR* p.Lys385Thr (35.5%)
01	ET	30	M	Malay	17.1	7.6	1730	No	No	No	TET2 p.Ile1195Val (49.6%)
02	ET	50	F	Chinese	13.2	10.9	776	No	No	No	CALR p.Lys385Asnfs46 (15.9%) TET2* p.Glu1513Gly (51.6%)
02	ET	50	F	Chinese	13.2	10.9	776	No	No	No	TET2 p.Phe868Leu (48.7%) TET2 p.Tyr1631* (1.4%)^b
03	ET	79	M	Malay	11.1	24.5	869	No	No	Yes	JAK2 p.Val617Phe (88.0%) ASXL1 p.Gln1433Gln (49.2%)^a
03	ET	79	M	Malay	11.1	24.5	869	No	No	Yes	DNMT3A p.Pro385Pro (51.6%)^c
04	PV	54	M	Chinese	18.9	17.2	426	No	Yes	Yes	JAK2 p.Val617Phe (72.9%) ASXL1 p.Gly646Trpfs*10 (31.3%)^a
05	PV	66	F	Chinese	19.3	18.1	423	No	Yes	No	JAK2 p.Val617Phe (66.5%)
06	PV	73	M	Dutch	20.0	9.0	334	No	Yes	Yes	JAK2 p.Val617Phe (19.2%) U2AF1 p.Gln157Pro (9.8%)
07	Pre-PMF	50	M	Chinese	15.0	17.8	859	No	Yes	Yes	JAK2 p.Val617Phe (12.1%) ABL1 p.Asn350Ser (48.8%)
08	Pre-PMF	50	F	Malay	8.7	58.4	1099	No	Yes	No	JAK2 p.Val617Phe (53.7%) RUNX1 p.Gln308His (49.6%)^c
											SF3B1 p.Lys700Glu (45.6%)
											TET2 p.Asp1314Metfs*48 (46.3%)
											TET2 p.Tyr1245Cys (44.9%)^a
09	Overt-PMF	46	M	Malay	7.1	3.9	452	Yes	No	No	CALR p.Leu367Thrfs45 (10.6%) ASXL1* p.Leu731Tyrfs*12 (38.5%)^a
10	Overt-PMF	63	M	Chinese	7.3	5.5	54	No	Yes	Yes	JAK2 p.Val617Phe (12.2%) ASXL1 p.Tyr591* (40.8%)
											TET2 p.Ala304Val (50.1%)
											U2AF1 p.Gln157Pro (42.5%)

Hb, haemoglobin; WBC, white blood cell; HSM, hepatosplenomegaly
^aPutative novel variant
^bVariant with low allele frequency, not validated via Sanger sequencing
^cVariant of uncertain significance (VUS)/likely benign/benign variant included for validation of the custom NGS panel

ISSN: 1755-8794