Bioinformatic analysis of KIT juxtamembrane domain mutations in Syrian GIST patients: jigsaw puzzle completed

Pharaon, Nour; Habbal, Wafa; Monem, Fawza

doi:10.1186/s43046-023-00185-0

Journal of the Egyptian National Cancer Institute

Table 1 Demographics and histopathological characteristics of Syrian GIST patients with mutations in exon 11 of the KIT gene (n = 28)

From: Bioinformatic analysis of KIT juxtamembrane domain mutations in Syrian GIST patients: jigsaw puzzle completed

Case no	Histopathological characteristics			Molecular variations		Demographics
	Tumor grade	Mitotic rate	Cell morphology	Exon 11	Introns 10/11	Age (year)	Gender
*Anatomic site: stomach*
1	High	High	Epithelioid	p.(Trp557_Lys558del)		59	M
2	High	High	Mixed	p.(Trp557_Val559delinsPhe)		48	M
3	High	High	Mixed	p.(Tyr553_Val559del)		55	M
4	High	High	Mixed	p.(Lys550Arg)		71	M
5	High	High	Spindle	p.(Trp557_Lys558del)	c.1774 + 5 G > A^a	55	M
6	High	High	Spindle	p.(Trp557_Val559delinsPhe)		61	M
7	High	Moderate	Epithelioid	p.(Tyr553His)^a p.(Lys581Glu)^a		81	F
8	High	Moderate	Mixed	p.(Pro551_Val569delinsLeu)^b		67	M
9	High	Moderate	Spindle	p.(Trp557_Lys558del)^b p.(Glu561Lys)^b	c.1648–29 G > A^ab c.1648–27 G > A^ab c.1774 + 9 G > A^ab	57	M
10	High	Moderate	Spindle	p.(Trp557_Lys558del) p.(Lys550Arg)		52	F
11	High	Moderate	Spindle	p.(Trp557_Lys558del)		63	M
12	Low	Low	Epithelioid	p.(Trp557_Lys558del) p.(Lys550Arg)		32	F
13	Low	Low	Epithelioid	p.(Trp557_Lys558del) p.(Lys550Arg)		59	M
14	Low	Low	Spindle	p.(Pro551_Glu554del) p.(Lys550Arg)		53	M
*Anatomic site: small intestine*
15	High	High	Epithelioid	p.(Trp557_Lys558del) p.(Lys550Arg)		73	F
16	High	High	Epithelioid	p.(Lys550Arg)^b		66	F
17	High	High	Spindle	p.(Trp557_Lys558del) p.(Lys550Arg)		50	F
18	High	High	Spindle	p.(Trp557_Lys558del) p.(Lys550Arg)		37	F
19	High	Moderate	Mixed	p.(Gly565Glu) p.(Arg586Lys)	c.1774 + 37del^a	66	M
20	High	Moderate	Mixed	p.(Trp557_Lys558del)^b p.(Val555Ile)	c.1774 + 5 G > A^a	54	F
21	High	Moderate	Mixed	p.(Lys550Arg)		44	F
22	High	Moderate	Spindle	p.(Trp557_Lys558del) p.(Lys550Arg)		49	F
23	High	Moderate	Spindle	p.(Trp557_Lys558del) p.(Lys550Arg)		76	M
24	High	Moderate	Spindle	p.(Trp557Gly)		66	F
25	Low	Low	Spindle	p.(Lys558_Val559del)		30	M
26	Low	Low	Spindle	p.(Tyr570ThrfsTer2)^a		28	F
*Anatomic site: large intestine*
27	High	High	Spindle	p.(Leu576Pro)		71	F
*Anatomic site: omentum and mesentery*
28	Low	Low	Spindle	p.(Trp557_Lys558del)		48	M

^aVariation is novel. ^bWild type not detected

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