Gastrointestinal Stromal Tumors Associated with Neurofibromatosis 1: A Single Centre Experience and Systematic Review of the Literature Including 252 Cases

Table 2

Clinical and pathological features from 252 GISTs in 126 NF1 patients.

Sex	𝑛	%
M	59.0	50.0
F	59.0	50.0
Total available	118.0	100.0
Age (years)
Mean; SD		52.8; 13
Range		19.0–82.0
Familial history	𝑛	%
Sporadic	5.0	29.4
Familial	12.0	70.6
Total available	17.0	100.0
Number of GISTs	𝑛	%
1	77.0	64.7
>1	42.0	35.3
Total available	119.0	100.0
Localization	𝑛	%
Stomach	12.0	5.4
Duodenum	44.0	19.8
Jejunum	87.0	39.2
Ileus	68.0	30.6
Colon	4.0	1.8
Other	6.0	2.7
Not specified	1.0	0.5
Total available	222.0	100.0
Symptoms	𝑛	%
Incidental	21.0	52.5
Bleeding	11.1	27.5
Pain	4.0	10.0
Palpable mass	4.0	10.0
Total available	40.0	100.0
GIST’s diameter (cm)
Mean		3.8; 4.3
Range		0.1–29.0
Mitotic index (𝑛/50 HPF)
Mean		3.0; 8.2
Range		0.0–57.0
Morphology	𝑛	%
Spindle-shaped	159.0	93.0
Epithelioid	9.0	5.3
Mix	3.0	1.7
Total available	171.0	100.0
c-kit	𝑛	%
Positive	151.0	97.4
Negative	4.0	2.6
Total available	155.0	100.0
CD34	𝑛	%
Positive	84.0	81.6
Negative	19.0	18.4
Total available	103.0	100.0
Anti-SMA	𝑛	%
Positive	19.0	24.1
Negative	60.0	75.9
Total available	79.0	100.0
S-100	𝑛	%
Positive	33.0	30.3
Negative	76.0	69.7
Total available	109.0	100.0
Desmin	𝑛	%
Positive	0.0	0,0
Negative	109.0	100.0
Total available	109.0	100.0
DOG-1	𝑛	%
Positive	15.0	88.2
Negative	2.0	11.8
Total available	17.0	100.0
c-kit/PDGRFa Mutations	𝑛	%
Presence	8.0	4.8
Absence—wild type	157.0	95.2
Total available	165.0	100.0
Risk classification	𝑛	%
Low risk	37.0	64.9
Intermediate risk	10.0	17.5
High risk	10.0	17.5
Total available	57.0	100.0