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.
NIH risk classification1 for primary GIST.
NCCN risk classification34 for primary GIST.
Loss of heterozygosity (LOH) of the SDHB normal allele in the tumor.
Tumor with complete loss of SDHB promoter and exon 1 (MLPA analysis).
Tumor with complete loss of SDHB promoter and loss heterozygosity (LOH) exon 1 (MLPA analysis).
Screening of mutations in SDHA exons performed in germline DNA of the patient peripheral blood lymphocytes.