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Table 1 Reported cases of primary CCS of bone (n = 13)

From: Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene

Author Age/Sex Location General screening for primary lesion including melanoma Immunohistochemistry Genetic analysis Treatment Follow up
Yokoyama et al. [3] 33/F Right ulna Various radiograph Positive: S-100, HMB-45, vimentin
Negative: desmin, keratin
Not performed Neoadjuvant: Ifosfamide, cisplatin and doxorubicin
Wide margin resection
Adjuvant: cisplatin and doxorubicin
CDF, 65 months after surgery
Brekke et al. [4] 62/F Right first metatarsal 99mTc MDP bone scan Positive: S-100 protein, vimentin
Negative: HMB-45, cytokeratin (AE1/AE2)
Not described Syme’s amputation CDF, 15 months after surgery
Gelczer et al. [5] 18/M Left ninth rib CT, 99mTc MDP bone scan, bone marrow aspirate Positive: S-100 protein, HMB-45 Not described Neoadjuvant: Performed but details were not described
Wide resection
Adjuvant: doxorubicin, cyclophosphamide, vincristine
CDF, 55 months after treatment
Inaoka et al. [6] 55/M Right radius CT, skin checked by dermatologist, ophthalmofundoscopy, upper gastrointestinal endoscopy, Bone scintigraphy with 99mTc-HMDP Positive:S-100 protein, HMB-45, vimentin Negative (method not described) Neoadjuvant: cisplatin and doxorubicin
Total tumor resection
CDF, 18 months after primary surgery
Choi et al. [7] 48/F Right first metatarsal CT, whole body radioisotope scan Positive: S-100, HMB-45
Negative: cytokeratin, epithelial membrane antigen
Not performed Below-knee amputation of the right leg DOD, 20 months after surgery
Hersekli et al. [8] 28/F Left ninth rib CT, skin checked by dermatologist, Bone scintigraphy with 99mTc-HMDP and 67Ga Positive:S-100 protein, HMB-45 FISH: negative Total tumor resection
adjunctive radiotherapy of 500 cGy
CDF, 33 months
Kazakos et al. [9] 61/M Left scapula Bone scanning, CT Positive: S-100, HMB-45, NSE, EMA, cytokeratin, myosin Not described Wide resection
Adjuvant: ifosfamide, vincristine and epirubicin
DOD, 15 months after adjuvant chemotherapy
Rocco et al. [10] 53/M sternum CT, PET, bone scans Positive: S-100, TFE3
Negative: HMB-45, MART1, cytokeratins, epithelial membrane antigen, renal cell carcinoma, CD10, chromogranins, synaptophysin, inhibin, calretinin
FISH: positive Wide resection Not described
Zhang et al. [11] 25/M sacrum CT, MRI (thorax and abdomen), Bone scintigraphy with 99mTc-HMDP, skin, oral, anal and fundus oculi checked Positive: S-100, HMB-45, Melan-A
Negative: EMA, CD117, CD34, MSA, GFAP, PGM-1, RCC, MIB-1, AE1/AE3, CEA, Des, and HBME-1
FISH: positive Curettage and debridement AWD, 9 months after surgery
Liu et al. [12] 20/F Proximal right humerus Bone scintigraphy with 99mTc-HMDP Positive: S-100, HMB-45 FISH: negative Neoadjuvant: cisplatin and doxorubicin
Total tumor excision-alcoholization-replantation, internal fixation and bone cement implantation
Adjuvant: cisplatin, doxorubicin and
CDF, 1 year after treatment
Nakayama et al. [13] 81/M Left pubic bone CT, PET/CT, Bone scintigraphy with 99mTc-HMDP, 67Ga-citrare scintigraphy, skin checked by dermatologist Positive: S-100, HMB-45, Melan-A
Negative: cytokeratin, epithelial membrane antigen
FISH: negative,
direct sequencing BRAF mutation: negative
Dimethyl triazeno imidazole carboxamide, 1-[4-amino-2-methyl-5-pyrimidinyl]-methyl-3-[2-chloroethyl]-3-nitrosourea hydrochloride and vincristin, radiotherapy DOD
Licata et al. [14] 42/M Left third metatarsus Bone scan Positive: S-100, HMB-45, Melan-A
Negative: cytokeratin, epithelial membrane antigen
Not described transtibial amputation Not described
Xu et al. [15] 61/M Right calcaneus Bone scintigraphy with 99mTc-HMDP Positive: S-100, vimentin, melanA
Negative: HMB45, NSE, SMA, desmin, CD117, CD99, cytokeratin
Positive (method not described) Below-knee amputation CDF, at the 6 months follow-up
Kubota et al. (The present study) 36/M Left Femur skin checked by dermatologist, Whole-body CT, PET/CT, MRI (femur, upper limb, spine) Positive: S-100, HMB-45, melanA, vimentin, Sox10, INI-1, EMA, CD99, TLE-1, Ki67
Negative: AE1/AE3, CD34, CD56, LCA, WT-1, BRAF v600e, H3.3G34, Fli-1, ERG, NKX2.2
RT-PCR, direct sequence of transcripts and found EWSR1-exon 8 forward and ATF1-exon 4 reverse (type 1) Wide margin resection and distal femoral replacement using cemented rotating hinge prosthesis CDF, 9 months after surgery
  1. CT Computed tomography, PET Positron emission tomography, MRI Magnetic resonance imaging, F Female, M Male, 99mTc MDP Tc-99m-methylene diphosphonate, CDF Continuous disease free, DOD Died of disease, AWD Alive with disease, RT-PCR Reverse transcription polymerase chain reaction, FISH Fluorescent in-situ hybridization