Genomic trajectory in leukemogenesis of myeloproliferative neoplasms: a case report

BMC Medical Genomics

Table 1 Summary of Karyotype, FISH and molecular mutations

Disease stage		Peripheral blood 2010	Bone marrow 2016	Bone marrow 2017	Bone marrow 2018	Colonic mass 2018	Pleural effusion 2018
Disease stage		Essential Thrombocytosis	Accelerated Phase Essential Thrombocytosis	Accelerated Phase Essential Thrombocytosis	Bone marrow 2018	Myeloid Sarcoma	B-cell ALL
Chr	Mutations
1	NRAS (NM_002524) c.34G > A (p.G12S)		0.0			73.3	0.0
2	SF3B1 (NM_012433) c.1873C > T (p.R625C)		34.7			43.5	47.6
4	TET2 (NM_001127208) c.3812dupG (p.C1271fs)		33.8			47.9	48.4
9	JAK2 (NM_004972) c.1849G > T (p.V617F)	Pos	35.2	Pos		0.0	0.0
17	TP53 (NM_000546) c.215C > G (p.P72R)		45.5			9.3	3.4
17	TP53 (NM_000546) c.734G > C (p.G245A)		0.0			83.7	93.8
1	MPL ex. 10		Neg	Neg		Neg	Neg
19	CALR ex. 9		Neg	Neg
	Karyotypes
	5del (q22-q33)		43.5		0.5	43.0	98.5
	17p del		85.0			49.0
	20q del			9.0	28.5		96.0
	MLL (KMT2A) amplification				0.0	74.0	92.0
	MYC amplification						21.5

Variant allele frequencies are defined as fractions of variant versus total sequencing read count expressed as percentages. Frequencies of chromosomal abnormalities are estimated similarly
FISH fluorescent in situ hybridization, ALL acute lymphoblastic leukemia

ISSN: 1755-8794