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 500Â 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, MRIÂ (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 methotrexate | CDF, 1Â 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 |