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. 2012 Sep 5;21(5):503–510. doi: 10.1038/ejhg.2012.205

Table 1. Clinicopathological features of 25 patients with KIT/PDGRFA/BRAF wild-type GIST.

                    SDH IHC expression    
Case Gender Age (years) Primary site Tumor largest size (cm) Histologic cell subtype Mitosis/50 HPF NIH risk classificationa NCCN risk classificationb Molecular alterationsSDHB, SDHC, SDHD SDHA SDHB Curative surgery -R classification Follow-up (months/status)
1 M 26 Stomach 6 Spindle 16/50 High High Pos (germline)c c.T282A, p.Ile44Asn High Negative R0 104/ANED
2 M 30 Stomach 10 Epithelioid 8/50 High High Pos (germline)d SDHB c.1-10413_73-3866del High Negative R0 156/DUC
3 M 42 Stomach 3 Spindle 12/50 High Moderate Pos (germline)e SDHB c.1-10413_73-3866del High Negative R0 94/ANED
4 M 49 Stomach 6.5 Epithelioid 7/50 High High Negf Negative Negative R0 271/ANED
5 F 58 Stomach 3.5 Epithelioid 1/50 Low Very low Negf Negative Negative R1 198/ANED
6 M 75 Duodenum >3 Spindle 1/50 NA NA Pos (somatic) SDHB c.1-10413_73-3866del Moderate Moderate NR 9/DOD
7 F 77 Small intestine 6 Spindle 1/50 Intermediate Moderate Neg High High R0 132/DUC
8 M 74 Stomach 3 Mixed 5/50 Low Very low Neg High High R0 120/DUC
9 F 72 Stomach 8 Spindle 4/50 Intermediate Low Neg High High R1 35/ANED
10 F 53 Small intestine 3.5 Spindle 4/50 Low Low Neg High Moderate R0 124/ANED
11 M 62 Stomach 6.5 Spindle 5/50 Intermediate Low Neg High Low R0 111/ANED
12 M 73 Small intestine 6 Spindle 3/50 Intermediate Moderate Neg High High R0 106/ANED
13 F 66 Stomach 14 Spindle 5/50 High Moderate Neg Moderate Low R0 129/ANED
14 F 63 Small intestine 6.5 Mixed 2/50 Intermediate Moderate Neg High Moderate R0 270/ANED
15 M 52 Small intestine 9.5 Spindle 4/50 Intermediate Moderate Neg High Moderate R0 213/ANED
16 M 55 Small intestine 4 Spindle 1/50 Low Low Neg High Moderate R0 66/DUC
17 F 50 Stomach 5.6 Spindle 6/50 High High Neg High Moderate R1 198/ANED
18 F 82 Stomach 7 Epithelioid 5/50 Intermediate Low Neg Low Low R0 80/DUC
19 M 81 Stomach 3.3 Spindle 1/50 Low Very low Neg Moderate Moderate R0 75/DUC
20 M 81 Colon 12.5 Epithelioid 12/50 High High Neg High Moderate R2 0/DOD
21 M 60 ND 13 Mixed 4/50 High High Neg High Low NR 48/DOD
22 M 69 Stomach 19 Spindle 8/50 High High Neg High Moderate R2 4/DOD
23 M 76 Stomach 6 Spindle 2/50 Intermediate Low Neg Moderate Low R0 105/ANED
24 F 41 Stomach 4,5 Spindle 2/50 Low Very low Neg High Moderate R0 94/ANED
25 M 57 Stomach 17 Spindle 2/50 High Moderate Neg Moderate Moderate R0 107/ANED

Abbreviations: ANED, alive, no evidence of disease; DUC, dead of unrelated causes; DOD, dead of disease; F, female; GIST, gastrointestinal stromal tumor; HPF, high-power field; IHC, immunohistochemistry; M, male; NA, not applicable; NCCN, National Comprehensive Cancer Network; ND, not determined; Neg, negative; NIH, National Institutes of Health; NR, no resection; Pos, positive; R0, no macroscopic residual tumor (potentially curative surgery); R1, microscopic residual tumor; R2, macroscopic residual tumor (non-curative surgery); SDH, succinate dehydrogenase.

a

NIH risk classification1 for primary GIST.

b

NCCN risk classification34 for primary GIST.

c

Loss of heterozygosity (LOH) of the SDHB normal allele in the tumor.

d

Tumor with complete loss of SDHB promoter and exon 1 (MLPA analysis).

e

Tumor with complete loss of SDHB promoter and loss heterozygosity (LOH) exon 1 (MLPA analysis).

f

Screening of mutations in SDHA exons performed in germline DNA of the patient peripheral blood lymphocytes.