title: Intracranial desmoplastic small round cell tumor presenting as a suprasellar mass.
abstract: Desmoplastic small round cell tumors (DSRCTs) are rare, aggressive neoplasms that typically arise from abdominal and pelvic peritoneum in young adults. Other primary sites are uncommon, and an intracranial origin is exceptionally rare. Here the authors report the first case of a DSRCT presenting as a primary suprasellar tumor causing panhypopituitarism and severe bitemporal hemianopia in a young man. Macroscopic debulking of the tumor was undertaken, and histology revealed features of DSRCT. Reverse transcription polymerase chain reaction confirmed the presence of Ewing's sarcoma-Wilms tumor 1 (EWS-WT1) gene rearrangement specific to DSRCT. Postoperative whole-body imaging showed no primary malignancy elsewhere. The tumor recurred 4 months after surgery, and this was followed by cervical and mediastinal lymph node metastases. The patient died 20 months after initial presentation of rapidly progressive disease. DSRCTs should be included in the differential diagnosis of an unusual suprasellar mass in young adults. Early diagnosis is essential, and once the tumor is identified histologically, gross-total resection and radical postoperative treatment involving radiotherapy, chemotherapy, and close surveillance are required because of the lesion's potential for rapidly progressive malignancy.
authors.affiliation: Department of Endocrinology, University Hospital Aintree, Liverpool;
authors.forename: Sravan K
authors.initials: SK
authors.lastname: Thondam
authors.forename: Daniel
authors.initials: D
authors.lastname: du Plessis
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Cuthbertson
authors.forename: Kumar S V
authors.initials: KS
authors.lastname: Das
authors.forename: Mohsen
authors.initials: M
authors.lastname: Javadpour
authors.forename: Ian A
authors.initials: IA
authors.lastname: MacFarlane
authors.forename: James
authors.initials: J
authors.lastname: Leggate
authors.forename: Brian
authors.initials: B
authors.lastname: Haylock
authors.forename: Christina
authors.initials: C
authors.lastname: Daousi
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000473:pathology* / Q000601:surgery; D058405:Desmoplastic Small Round Cell Tumor / Q000473:pathology* / Q000601:surgery; D017809:Fatal Outcome; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology; D008297:Male; D019635:Neurosurgical Procedures; D009897:Optic Chiasm / Q000473:pathology; D010911:Pituitary Neoplasms / Q000473:pathology* / Q000601:surgery; D012512:Sarcoma, Ewing / Q000473:pathology / Q000601:surgery; D014786:Vision Disorders / Q000209:etiology; D058609:Visual Field Tests; D009396:Wilms Tumor / Q000473:pathology / Q000601:surgery
keywords: DSRCT = desmoplastic small round cell tumor; EMA = epithelial membrane antigen; EWS = Ewing's sarcoma; EWS-WT1 gene fusion; FISH = fluorescent in situ hybridization; PLAP = placental alkaline phosphatase; RT-PCR = reverse transcription polymerase chain reaction; WT1 = Wilms tumor 1; desmoplastic small round cell tumor; intracranial malignant tumor; oncology; suprasellar mass