Table 1 Literature survey of TP53 mutation analysis in malignant peripheral nerve sheath tumors

From: Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53

Year	First author	Method	Sample type	Exons analyzed	Number of tumors mutated^e	Number of tumors analyzed^e	% with mutation^f
1989	Nigro	PCR and ds	Biopsy/cell lined^d	2 to 11	1	1	100
1990	Menon	PCR and bds	Fresh frozen	5 to 8	1	7	14.3
1993	Boman	PCR-SSCP and ds	Fresh frozen	2 to 11	0	1	0
1993	Lothe^a	PCR CDGE and ds	Fresh frozen	5,7,8	0	1
1994	Flørenes	PCR-SSCP and ds	Fresh frozen	5, 7, 8	0	3	0
1994	Latres	PCR-SSCP and ds	Fresh frozen	2 to 9	0	6	0
1994	Legius	PCR and solid phase ds	Fresh frozen/cell line^d	4 to 9	2	3	66.7
1995	Castresana	PCR-SSCP and ds	Fresh frozen	5 to 8	1	9	11.1
1995	Lothe^a	PCR CDGE and ds	Fresh frozen	5 to 8	0	7
1997/	Schneider-Stock^b/	PCR-SSCP and ds	Fresh frozen	5 to 8	4 (3,1)	18 (10,12)	22.2
2002	Mawrin^b
1998	Taubert	PCR-SSCP and ds	Fresh frozen/formalin-fixed	4 to 9	0	28	0
1999	Rieske	PCR-SSCP and ds	Fresh frozen	5 to 8	2	15	13.3
2000	Rasmussen	PCR-SSCP and ds	Not given	4 to 9	0	5	0
2000	Sonobe	PCR and ds	Cell line^d	4 to 9	1	1	100
2001	Birindelli	PCR-SSCP and ds	Formalin-fixed	5 to 8	7	27	25.9
2001	Lefevre	PCR and ds	Fresh frozen	2 to 11	1	1	100
2001	Leroy	PCR-DGGE and ds	Fresh frozen	5 to 8	4	6	66.7
2001	Lothe^a	PCR-DG/GE/TGGE and ds	Fresh frozen	2 to 11	0	16
2001	Watanabe	PCR-SSCP and ds	Formalin-fixed	5 to 8	0	17	0
2002	Shin	PCR and ds	Formalin-fixed	5 to 8	1	1	100
2004	Magrini	PCR and ds	Fresh frozen	4 to 10	1	1	100
2004	Upadhyaya	PCR-SSCP and ds	Not given	4 to 9	0	6	0
2007	Chao^c	PCR and ds	Leukocytes	4 to 10	1	1
2007	Holtkamp	PCR-SSCP and ds	Fresh frozen/formalin-fixed	1 to 11	4	36	11.1
2008	Upadhyaya	PCR and ds	Not given	4 to 9	4	15	26.7
2009	Fauth	PCR and ds	Formalin-fixed	2 to 11	1	2	50.0
2010	Verdijk	PCR and bds	Formalin-fixed	4 to 9	17	72	23.6
2011	Beert	PCR and bds	Cell line^d	2 to 9	3	6	50.0
2012	Evans^c	not given	Not given	Not given	3	3
2014	Lee	WGS(n = 12)/TS(n = 32)	Fresh frozen/formalin-fixed^g	Full	11	44	25.0
2014	Zhang	WGS(n = 4)/WES(n = 4)	Fresh frozen	Full	1	8	12.5
2015	Hirbe	WES/TS	Fresh frozen/formalin-fixed	Full	3	16	18.8
2015	McPherson	WES	Fresh frozen	Full	0	1	0
2017	Sohier	WES	Fresh frozen	Full	0	8	0
2018	Høland^a	PCR and ds	Fresh frozen	2 to 11	8	98	8.2

References for all the articles are included in Supplementary Table S1
PCR polymerase chain reaction, ds direct sequencing, bds bidirectional sequencing, CDGE constant denaturing gel electrophoresis, SSCP single-strand conformation polymorphism, DGGE denaturing gradient gel electrophoresis, TGGE temperature gradient gel electrophoresis, WGS whole-genome sequencing, WES whole-exome sequencing, TS targeted sequencing
^aFour publications with overlapping patient material, all patients were included in the present study (Høland, 2018)
^bTwo publications with overlapping patient material were merged, patients that could be verified as overlapping were excluded
^cPublications analyzing the tumors in patients with Li-Fraumeni syndrome, not included in calculations of mutation prevalence
^dCell lines, in Nigro 1989, 88-3/14, in Legius 1994, NF88-2, NF89-11, NF90-8; in Sonobe 2000, HS-SCH-2 (established in study); in Beert, HM1–3, HM9, and HM22–23 (established in study)
^eTumors from unique patients: each patient was only counted once as long as the information was available
^fOnly given for studies included in calculations of the overall mutation prevalence
^gWGS samples were frozen, while TS samples were formalin-fixed

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Table 1 Literature survey of TP53 mutation analysis in malignant peripheral nerve sheath tumors

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