Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review

Hurkmans, Evelien G. E.; Brand, Annouk C. A. M.; Verdonschot, Job A. J.; te Loo, D. Maroeska W. M.; Coenen, Marieke J. H.

doi:10.1186/s12885-022-10434-5

Table 1 Study design, population characteristics and outcomes of hypothesis-generating pharmacogenetic studies investigating the association between genetic variants and treatment response

From: Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review

Author, year	Study design					Associated phenotype(s)	Associated variant(s)	Ref
Author, year	Study approach	No. of osteosarcoma patients	Follow-up time	Ethnicity; nationality	Investigated number of variants and genes	Associated phenotype(s)	Associated variant(s)	Ref
Bhuvaneshwar et al., 2019	Whole genome sequencing	INOVA: 15	NS	INOVA: NS; American	Mutation hotspot haplotypes	Relapse	Haplotypes in 26 genes	[32]
		TARGET: 85		TARGET: NS; Canadian/Brazilian	Mutation hotspot haplotypes	Relapse	10 SNPs in 4 genes found in haplotypes in both datasets
					4,543 variants in ADME genes	Tumor necrosis and survival	SLC22A1 rs4646272^a
							SLC22A8 rs2187384^a
							UGT2B15 rs34073924^a
							CHST12 rs3735099^a
							CHST12 rs3735100^a
Caronia et al., 2011	Pathway approach	102	NS	NS; Spanish	366 variants in 24 metabolism and transporter genes	OS	ABCC3 rs4148416	[33]
						EFS	ABCB1 rs4148737
							ABCB1 rs1128503
							ABCB1 rs10276036
Hagleitner et al., 2015	Pathway approach	Disc.: 126	NS	NS; Dutch	381 variants in 54 drug metabolism genes	PFS	FasL rs763110^a	[34]
		Repl.: 64					MSH2 rs4638843^a
							ABCC5 rs939338^a
							CASP3 rs2720376^a
							CYP3A4 rs4646437^a
Hattinger et al., 2016	Pathway approach	126	NS	NS; Italian	47 variants in 31 drug metabolism and transport genes	EFS	ABCC2 rs2273697^a	[35]
							GGH rs11545078^a
							TP53 rs1642785^a
							CYP2B6^a6^a
Koster et al., 2018	GWAS	GWAS: 523	NS	GWAS: > 80% European	510,856 variants	OS	GLDC rs3765555	[36]
Koster et al., 2018	GWAS	Repl.: 109	NS	Repl.: NS; Brazilian	510,856 variants	OS	GLDC rs55933544	[36]
Windsor et al., 2012	Pathway approach	58	41 (12–93) months	Caucasian: 41	35 variants in 21 pharmacological pathway genes of MAP	PFS	CCND1 rs9344^a	[37]
				Afro-Caribbean: 8			RFC rs1051266^a
				Indian/Asian: 9			GSTT1 null^a
							GSTP1 rs1695^a
						Histological response	ABCC2 rs717620^a
							GSTP1 rs1695^a
							MTHFD1 rs2236225^a

GWAS genome-wide association study, INOVA Inova pediatric group osteosarcoma patients, TARGET TARGET osteosarcoma dataset, Disc. discovery cohort, Repl. replication cohort, NS Not specified, ADME absorption, distribution, metabolism and excretion, MAP Methotrexate – Adriamycin (Doxorubicin) – Cisplatin chemotherapy regimen, OS overall survival, EFS event-free survival, PFS progression-free survival
^aAssociation was not significant after multiple testing correction, but is/are the top hit(s) of the study

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