Table 4.

A brief summary of the available clinical, radiologic, histologic, immunohistochemical and molecular features for the seven previously reported cases of EWSR1‐WT1 fusion‐positive intracranial DSRCTs is provided within Table 4 3, 9, 40, 50, 52, which is adapted from Thondam et al. Two other cases reported in the literature based on characteristic histology and immunostaining alone 54, or in combination with EWSR1 rearrangement by FISH 3 may also represent the same entity. The Memorial Sloan Kettering Cancer Center (MSKCC) P6 protocol has seven courses of chemotherapy. Courses 1, 2, 3 and 6 included cyclophosphamide 4200 mg/m², doxorubicin 75 mg/m² and vincristine. Courses 4, 5 and 7 consisted of ifosfamide 9 g/m² and etoposide 500 mg/m² for previously untreated patients 34. The symbol “–” is used to indicate when selected information was not available. Abbreviation: NSE = neuron‐specific enolase.

Case #	Publication	Age (years)	Gender	Tumor location	Presenting symptoms	Imaging findings	Extent of resection	Adjuvant chemotherapy	Adjuvant radiation therapy	Clinical status	Length of follow‐up	Histology	Immuno‐histochemistry	Molecular findings
1	Tison et al 52	24	M	Left posterior fossa	Headache, emesis, vertigo, impaired hearing	4 cm mass adherent to the tentorium and petrous portion of the temporal bone, with displacement of left cerebellar hemisphere; no extracranial malignancy on CT/MRI total body scans	Subtotal	3 cycles consisting of PCNU, cisplatin, and VP‐16 intracranial methotrexate every 40 days	yes	Alive with no clinical signs of relapse at time of publication	~3 years	Compact nests of small uniform round and oval cells with hyperchromatic nuclei and scarce cytoplasm, separated by a desmoplastic stroma, infrequent mitoses, with areas of necrosis	Desmin: positive, EMA: positive, Keratin: positive, NSE: positive	PCR performed using EWSR1 and WT1 primers, EWSR1‐WT1 gene fusion detected by Southern blot
2	Bouchireb et al 9	6	F	Right temporal	Headaches, complex partial seizure	Well‐dermarcated heterogeneously enhancing mass; PET‐CT was negative for extracranial malignancy	Gross total	MSKCC P6 protocol	Focal conformal irradiation to the tumor bed with a 2 cm margin at 54 Gy	No evidence of disease	18 months	Small round cell tumor with hyperchromatic nuclei and eosinophilic cytoplasm embeded in a fibromyxoid stroma, mitoses were infrequent	Desmin: positive, EMA: negative, AE1/AE3: negative, Synaptophysin: positive	EWSR1‐WT1 gene fusion detected by RT‐PCR
3	Neder et al 40	37	M	Left cerebellopontine angle	Left‐sided hearing loss and tinnitus	Heterogenouly enhancing mass, initial imaging suggested an acoustic neuroma; no extracranial malignancy on CT/MRI total body scans	Subtotal	After subsequent debulking of intradural spinal nodules, patient received carboplatinum and temozolomide	Sterotactic irradiation to CPA tumor bed after subsequent debulking of intradural spinal nodules received brain and spinal irradiation, with radiosurgery to CPA	Recurrent disease with spinal dissemination at 6 months, died at 2 years	2 years	Sheets of small to medium sized cells with hyperchromatic nuclei and inconspicuous nucleoli, with a desmoplastic stroma, foci of necrosis mitotic index 5/10 HPFs	Desmin: positive, EMA: positive, CAM 5.2: positive, Synaptophysin: negative, Neurofilament: negative Ki‐67, LI: 17.6%	EWSR1‐WT1 gene fusion detected by RT‐PCR
4	Neder et al 40	39	M	Posterior fossa	Gait imbalance, bilateral lower limb weakness, with subsequent fall and hypotonic paraparesis	Left cerebellar hemisphere, and CPA lesions with spinal leptomeningeal deposits at presentation, multiple patchy enhancing lesions	Decompression of spinal cord	3 cycles of cisplatin, etoposide, and Holoxan	Yes	Alive with progressive disease	27 months	Viable perivascular tumor cells seperated by necrosis, oval to irregular nuclei with coarse chromatin and scant cytoplasm, mitotic index 5/10 HPFs	Desmin: positive, EMA: positive, CAM 5.2: positive, Synaptophysin: negative, Neurofilament: negative Ki‐67, LI: 11.5%	EWSR1‐WT1 gene fusion detected by RT‐PCR
5	Thondam et al 50	27	M	Suprasellar	Panhypopituitarism, with subsequent development of bitemporal hemianopia one year later after missing follow‐up appointments	Heterogenously enhancing suprasellar mass extending into third ventricle and the pituitary fossa; whole‐body imaging was negative for extracranial malignancy	Near total resection	Palliative chemotherapy was considered, but the patient's clinical condition deteriorated	Fractionated conformal radiotherapy was initiated at recurrence but discontinued due to clinical deterioration	Tumor recurred at 4 months, followed by cervical and mediastinal lymph node metastases, patient died at 20 months	20 months	Nests and cords of fairly uniform cells with hyperchromatic nuclei and indistinct cytoplasm distributed in a desmpolastic stroma, with calcifications and necrosis	Desmin: positive, CAM 5.2: positive, EMA: patchy, CK7: focal, CK20: focal, NSE: focal, Neurofilament: patchy	EWSR1‐WT1 gene fusion detected by RT‐PCR
6	Al‐Ibraheemi et al 3	6	M	Intracranial, infratemporal fossa	–	–	–	–	–	–	–	“Ewing sarcoma‐like,” small cell, desmoplasia present	Desmin: positive, Cytokeratin: focal	EWSR1‐WT1 gene fusion detected by RT‐PCR
7	Al‐Ibraheemi et al 3	37	M	Cerebellopontine angle	–	–	–	Yes	Yes	Vertebral metastasis, died with disease	32 months	“Ewing sarcoma‐like,” desmoplasia present	Desmin: positive, Cytokeratin: positive	EWSR1‐WT1 gene fusion detected by RT‐PCR