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 3 Study design, population characteristics and outcomes of hypothesis-generating pharmacogenetic studies investigating bone marrow- hepato- oto- nephrotoxicity or mucositis in patients with osteosarcoma

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	Investigated phenotypes	Associated phenotype(s)	Associated variant(s)	Ref
Gong et al., 2021	Pathway approach	7 of 80	NS	NS; Chinese	23 variants in 15 drug metabolizing and transport genes	Mucositis	Mucositis	ABCB1 rs1128503	[26]
								ABCB1 rs1045642
								MTHFR rs1801133
Hattinger et al., 2016	Pathway approach	57	NS	NS; Italian	45 variants in 31 drug metabolism and transport genes	Leukopenia, thrombocytopenia, red blood cell transfusion, platelet transfusion, hepatotoxicity	Leukopenia	ABCC2 rs2273697^a	[35]
							Leukopenia	MTHFR rs1801131^a
							Thrombocytopenia	ABCC2 rs2273697^a
							Thrombocytopenia	XPD rs1799793^a
							Hepatotoxicity	ABCB1 rs1128503^a
								ABCC2 rs2273697^a
								GGH rs1800909^HWa
Hegyi et al., 2017	Pathway approach	59	NS	NS; Hungarian	29 variants in ABCB1, ABCC1, ABCC2, ABCC3, ABCC10, ABCG2, GGH, SLC19A1, NR1I2	Leukocyte/ neutrophil granulocyte count	Myelotoxicity	ABCC2 rs2273697^a	[60]
								ABCC2 rs3740066^a
								NR1I2 rs3732361^a
								NR1I2 rs3814058^a
								NR1I2 rs6785049^a
							Hepatotoxicity	NR1I2 rs3732361^a
								NR1I2 rs3814058^a
								NR1I2 rs6785049^a
Hurkmans et al., 2020	ADME panel	113	NS	Caucasian; Dutch, Spanish, Australian	1936 variants in 231 ADME genes	Creatinine, ALAT, ASAT, hemoglobin, thrombocyte, leukocyte and neutrophil counts	Thrombocyte counts	CYP2B6 rs4803418	[61]
								CYP4F8 rs4808326
								CYP2B6 rs4803419
Meijer et al., 2021	GWAS	Stage 1: 208 (of 390)	Cases: 0.4 (0–3) years Controls: 0.3 (0–2.5)	NS; European	NS	Ototoxicity	Ototoxicity	TCERGL1 rs893507^a	[25]
		Stage 2: 49 (of 192)	Cases: 0.7 (0.2–11.4) Controls: 0.8 (0.1–16.2)	NS; Canadian
		Stage 3: 111 (of 188)	Cases: 1.6 (0–17.2) Controls 1.7 (0–11.8)	NS; European
Windsor et al., 2012	Pathway approach	58	41 (12–93) months	Caucasian: 41	36 variants in 21 pharmacological pathway genes of MAP	Anemia, leucopenia, myelo-suppression, GFR, infection	Leucopenia	ERCC1 rs3212986^a	[37]
				Afro-Caribbean: 8				GSTP1 rs1695^a
				Indian/Asian: 9				ABCC2 rs17222723^a
							Anemia	MTHFD1 rs2236225^a
								MTHFR rs1801131^a
								CYBA rs4673^a
							Infection	XPC rs2228001^a
							Nephrotoxicity	ERCC2 rs13181^a
							Nephrotoxicity	MTHFR rs1801133^a

NS Not specified, ADME absorption, distribution, metabolism and excretion, MAP Methotrexate – Adriamycin (Doxorubicin) – Cisplatin chemotherapy regimen, ALAT alanine aminotransferase, ASAT aspartate aminotransferase
^aAssociation was not significant after multiple testing correction, but is/are the top hit(s) of the study

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