TABLE 1.
Procured epithelioid sarcoma cell line resources
| SMARCB1 status this report | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Cell Line/culture name | Age (years) | Sex | Location | Primary mutation; secondary mutation(s) | Year reported | Cell line/culture source | Protein status | Mutation status | CNV status | RNA status | Ref |
|
HS‐ES‐1 (CF‐00775) |
60 | M | Primary, right perineum |
SMARCB1– +vimentin, +cytokeratin, +EMA/MUC1 |
1997 | Sonobe (Riken, Japan) | Null | N/A | Hom intragenic loss (3344 bp) | Low (0×) | 32 |
|
HS‐ES‐2M (CF‐00776) |
‐ | M | Lung mets (2m) | SMARCB1– | 1993 | Sonobe (Riken, Japan) | Null | WT | Het gene loss | Low (0.14×) | 12 |
|
HS‐ES‐2R (CF‐00777) |
EPS recurrence (2r) | ||||||||||
| Primary unknown | |||||||||||
|
YCUS‐5 (CF‐00748) |
3 | F | Primary, neck | SMARCB1– | 1999 | Nagashima (Yokohama City University School of Medicine) | Null | WT | Het gene loss | Low (0.21×) | 24 |
| +cytokeratin, +EMA/MUC1, +vimentin, +ALK, +NSE, +TH | |||||||||||
|
VA‐ES‐BJ (CF‐00750) |
41 | M | Bone marrow mets | SMARCB1–/– | 1995 | Helson (St. Agnes Hospital) | Null | WT | Diploid | Low (0.53×) | 33 |
| Primary, vertebral | +AE1/AE3, +vimentin, +EMA/MUC1 | ||||||||||
| PCB‐00490‐5 | 22 | F | Primary, shoulder | SMARCB1– | 2018 | Keller (Children's Cancer Therapy Development Institute) | Null | N/A | Het gene loss, Hom intragenic loss (100 bp) | Mid (1.07×) | 8 |
| +ABL1, +NOTCH1, +MDM4, +PAK4, +MAP4K5 | |||||||||||
| CF‐00442‐2 | 26 | M |
Pulmonary mets Primary, right hand |
SMARCB1– | 2019 | Keller | Trace | Gene fusion | Het gene loss | High (2.57×) | N/A |
|
Epi‐544 (CF‐00979) |
‐ | ‐ | Primary, foot | SMARCB1– | 2011 | Lev (MD Anderson Cancer Center) | Trace | WT | Diploid | High (3.16×) | 34 |
| 0 | |||||||||||
|
ESX (CF‐02018) |
73 | F | Primary, left thigh | Hetero SMARCB1– | 2013 | Sato (Sapporo Medical University School of Medicine) | Present | Inframe deletion (c.10_12 delATG) | Diploid | High (8×) | 23 |
|
+AE1/AE3, +vimentin S100–, CD34–, CA125– | |||||||||||
| PCB495 | ‐ | M | ‐ | SMARCB1– | 2018 | Keller | ‐ | Splice acceptor variant (c.629‐1G>A) | Hom intragenic loss (425 bp) | ‐ | 8 |
| SJSTS046147_X1 | 18 | M | Primary, spine | Not reported | Unknown | St. Jude's Children's Research Hospital | ‐ | ‐ | ‐ | ‐ | N/A |
| CF‐01311 | 37 | F | Primary, vulva | Not reported | 2019 | Keller | Trace | ‐ | ‐ | ‐ | N/A |
Note: RNA status factor is ratio between tumour expression and median normal skeletal muscle expression from GTExII cohort (median value 25.5 TPM). Low represents statistically low expression, High represents statistically high expression, and Mid representing no significant difference between the expression in the sample and the expression in the GTExII data set.
Hom = homozygous, Het = heterozygous, ‐ = data not available.