Malignant Rhabdoid Tumour of the Pineal Region

Abstract

A 9-month-old male presented to hospital with signs and symptoms of raised intracranial pressure. A CT scan showed obstructive hydrocephalus from a large pineal region mass lesion into which an intratumoral hemorrhage had occurred. A posterior fossa craniectomy and subtotal excision of the mass lesion were performed. By histopathology, the lesion was a malignant rhabdoid tumour (MRT). Despite surgery and chemotherapy, the tumour grew inexorably, and the patient died four months after the initial diagnosis. MRT is a rare and highly invasive neoplasm which infrequently arises from the central nervous system. This is the first documented case of a MRT arising from the pineal region. The clinical, radiographic, and pathological features of the MRT in this patient are presented.Resume: Tumeur rhaboi'de maligne de la region pineale. Un bebe de sexe masculin, age' de 9 mois, a &X& admis a l'hopital parce qu'il pr6sentait des signes et des symptomes d'hypertension intracriinienne. Un CT scan a montre' une hydrocephalic obstructive due & une grosse masse situ6e dans la region pindale dans laquelle une hdmorragie intratumorale s'6tait produite. Par voie de la fosse postdrieure, on a precede' a une excision subtotale de la masse. A l'histopathologie, la lfision etait une tumeur rhabdoi'de maligne (TRM). La tumeur a progress^ inexorablement, malgre' la chirurgie et la chimiotherapie, et le patient est decfid6 quatre mois apres le diagnostic initial. La TRM est une n£oplasie rare et tres invasive originant peu fr6quemment du systeme nerveux central. Ceci constitue le premier cas document^ d'une TRM originant de la region pineale. Nous prSsentons les caracteiistiques cliniques, radiologiques et pathologiques de la TRM chez ce patient.Can. J. Neurol. Sci. 1994; 21: 273-277 The malignant rhabdoid tumour (MRT) is an uncommon neoplasm of early childhood. MRT is clinically characterized by an early age of onset and a poor prognosis.'-2 The high mortality associated with MRT results from its highly invasive and metastatic potential. The majority of MRTs occur in the infant kidney. MRT accounts for 2% of all childhood renal neoplasms. 3 Extra-renal MRTs are much less common than renal MRTs. To date, only 13 cases of MRTs of the central nervous system (CNS) have been reported. 4 " 13 We present the 14th documented case of a primary rhabdoid tumour of the CNS which satisfies the clinicopathological criteria for classification as a primary MRT. To our knowledge, this is the first reported case of a MRT arising from the pineal region. The clinical, radiographic and pathological findings of this rare but recently recognized CNS tumour are presented. CASE REPORTA 9-month-old male infant presented to hospital with a 5 day history of vomiting and irritability. On examination, he was clinically dehydrated, lethargic and demonstrated a "sun-setting" gaze paresis. His head circumference measured 49 cm (> 98th percentile) and his anterior fontanelle was full and tense. A CT scan showed enlarged ventricles and a large, hyperdense ma...

Pineal malignant rhabdoid tumor with chondroid formation in an adult

“…The CNS is a relatively common site for extrarenal MRT and in many instances they closely resemble their counterparts in kidney. 2–13 The histopathological features of CNS–MRT include round or polygonal cells with single vesicular nuclei, single prominent nucleoli, and abundant eosinophilic cytoplasm under light microscopic examination. Ultrastructural features include whorls of intermediate filaments in the cytoplasm corresponding to the hyaloid inclusions observed under light microscopy.…”

“…Mesenchymal, histiocytic, neuroectodermal, arachnoidal, and meningothelial cell derivation have all been postulated. 10 …”

“…The CNS is a relatively common site for extrarenal MRT and in many instances they closely resemble their counterparts in kidney. [2][3][4][5][6][7][8][9][10][11][12][13] The 16 reported a clinicopathological study of 55 ATT/RhT cases. They commented that CNS-MRT and ATT/RhT share a high incidence in infancy, overlap in histological appearance, and pursue a similarly aggressive clinical course, although it is not clear whether they represent the same neoplasm.…”

“…However, a myogenic origin of the tumor was subsequently ruled out and MRT is currently considered to occur at all ages and in many sites of the body. [2][3][4][5][6][7][8][9][10][11][12][13] Since Biggs et al 4 described a primary intracranial MRT, many instances of central nervous system (CNS) tumors that closely resemble their counterparts in the kidney have been reported. [2][3][4][5][6][7][8][9][10][11][12][13] In general, a primary CNS manifestation of MRT is predominantly related to early childhood.…”

Characterization of a Pineal Region Malignant Rhabdoid Tumor

“…The MRT used for analysis was derived from a 9-month-old male with a pineal region MRT [22], The specimen from surgery was divided into several portions and analyzed according to the proce dures listed below.…”