Table 1.
Chronological summary of MSI assessment in sarcomas.
| Authors | Year | Sarcoma population | Tissue source | Method of microsatellite assessment | Bethesda consensus panel | Frequency of MSI | Clinical correlation |
|---|---|---|---|---|---|---|---|
| Wooster et al. [42] | 1994 | Soft-tissue sarcomas (n = 18) |
Unspecified tumor preparation; peripheral blood (genomic control DNA) | PCR; 6% agarose electrophoresis, subcloning, and sequence analysis | 0/5 markers assessed | 11% (2/18) MSI at one loci | Not assessed |
| Belchis et al. [37] | 1996 | Osteosarcoma (n = 18) |
FFPE tumor specimens; unspecified normal tissue | PCR; gel electrophoresis; autoradiography | 0/5 markers assessed | 44% (8/18) with MSI at ≥1 loci (2/8 were MSI-H) | Not assessed |
| Tarkkanen et al. [43] | 1996 | Bone sarcomas (n = 29) |
Unspecified tumor preparation; peripheral blood (genomic control DNA) | PCR; gel electrophoresis; autoradiography | 0/5 markers assessed | No MSI observed | n/a |
| Martin et al. [38] | 1998 | Bone and soft tissue (n = 16) |
Fresh frozen tumor and peripheral blood (genomic control DNA) | PCR; gel electrophoresis; autoradiography | 0/5 markers assessed | 44% (7/16) with MSI at ≥1 loci (3/7 MSI-H) | MSI associated with poor clinical outcome |
| Aue et al. [44] | 1998 | Clear cell sarcoma and melanoma (n = 11) |
FFPE specimens (tumor and genomic control DNA) | PCR; gel electrophoresis; autoradiography | 0/5 markers assessed | No MSI observed | Conclude MSI analysis can be used to differentiate CCS from melanoma |
| Klinger et al. [39] | 2000 | Chondrosarcoma (n = 12) |
FFPE specimens (tumor and genomic control DNA) | PCR; gel electrophoresis; autoradiography | 0/5 markers assessed | 50% (6/12) with MSI at ≥1 loci (3/6 MSI-H) | Not assessed |
| Entz-Werle et al. [45] | 2003 | Osteosarcoma (n = 54) |
Fresh frozen tumor and peripheral blood (genomic control DNA) | Fluorescence-based PCR; automated sequencing | 1/5 markers assessed | No MSI instability observed | n/a |
| Ohali et al. [40] | 2004 | Ewing sarcoma (n = 23) |
Fresh frozen tumor and peripheral blood (genomic control DNA) | PCR; gel electrophoresis; autoradiography | 2/5 markers assessed | 48% (11/23) with MSI at ≥1 loci (4/11 MSI-H) | MSI associated with poor clinical outcome |
| Rucińska et al. [41] | 2005 | Soft-tissue sarcomas (n = 20) |
Fresh frozen tumor and peripheral blood (genomic control DNA) | Fluorescence-based PCR; automated sequencing | 1/5 markers assessed | 100% (8/8) of high-grade sarcomas with MSI at ≥1 loci (4/8 MSI-H); No MSI in low-grade sarcomas | Not assessed |
| Ebinger et al. [46] | 2005 | Ewing sarcoma (n = 18) |
FFPE specimens (tumor and genomic control DNA) | Unspecified | 5/5 markers assessed | 6% (1/18) with MSI at one loci | Not assessed |
| Kawaguchi et al. [56] | 2005 | STS (n = 40) |
Fresh frozen tumor and normal tissue | Fluorescence-based PCR; automated sequencing | 1/5 markers assessed | 25% (10/40) with MSI at ≥1 loci (2/10 MSI-H) | Not assessed |
| Entz-Werlé et al. [47] | 2005 | Osteosarcoma (n = 68)∗∗ same patient cohort as [45] |
Fresh frozen tumor and peripheral blood (genomic control DNA) | Fluorescence-based PCR; automated sequencing | 1/5 markers assessed | No MSI instability observed | n/a |
| Garcia et al. [48] | 2006 | Clear-cell sarcoma (n = 9) |
FFPE specimens (tumor and genomic control DNA) | Fluorescence-based PCR; automated sequencing | 5/5 markers assessed | 11% (1/9) with MSI at one loci | Conclude MSI analysis can be used to differentiate CCS from melanoma |
| Alldinger et al. [49] | 2007 | Ewing sarcoma (n = 55) |
FFPE tumor specimens and peripheral blood (genomic control DNA) | Fluorescence-based PCR; automated sequencing | 5/5 markers assessed | 14% (8/55) with MSI at one loci | MSI not predictive of clinical outcome |
MSI: microsatellite instability; STS: soft-tissue sarcoma; FFPE: formalin-fixed, paraffin-embedded; PCR: polymerase chain reaction; CCS: clear-cell sarcoma.