Atypical teratoid/rhabdoid tumor of lumbar spine in a toddler child

Abstract

BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric central nervous system malignancy with poor outcome. AT/RT is infrequently located in the spinal cord. CLINICAL PRESENTATION: A 16-month-old boy presented with progressive urinary retention and weakness of the lower extremities. Magnetic resonance imaging of the spine revealed an intradural extramedullary mass occupying the spinal canal at the level of T10-L3. The tumor was successfully resected by using neuroendoscopy. Histopathology demonstrated rhabdoid cells with eccentric nuclei and eosinophilic cytoplasmic hyaline inclusions. Immunohistologically, the tumor cells showed positive for epithelial membrane antigen, vimentin and neuron-specific enolase, and negative for integrase interactor 1. After surgery, the patient showed significant improvement in sitting and other neurological signs but presenting with flaccid neurogenic bladder. Intrathecal chemotherapy under European Rhabdoid Registry (EU-RHAB) protocol with Doxorubicin, Carboplatin, Etoposide, Ifosfamide, Vincristine, Cyclophosphamide and Actinomycin-D was given. However, recurrent intradural extramedullary tumor at the level of T11-L2 developed in 3 months. CONCLUSION: We report a young Asian case of AT/RT in thoracolumbar spine with recurrent tumor shortly after complete surgical resection of the tumor. (2017) Spinal Cord Series and Cases INTRODUCTIONAtypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly aggressive and lethal neoplasm of the central nervous system (CNS) that usually occurs in very young children and infants. It may also occur in other anatomic sites, such as the kidneys, liver, abdomen or soft tissues. For CNS AT/RT, the posterior cranial fossa is the most frequent and well-studied location. 1 The prevalence of pediatric spinal AT/RT is rare, with a total of 38 cases in the literature between 1987 and 2015. 2 To our knowledge, only three cases are reported as presenting in the lumbar area. [2][3][4] We herein report a case of lumbar intradural extramedullary AT/RT in an 1-year 4-month-old boy with review of the literature.

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

“…Because of the extramedullary localization of the previously reported spATRT, it is tempting to speculate that these patients might have rather represented extrarenal malignant rhabdoid tumors (eMRT) than true ATRT of the spinal cord, which are difficult to distinguish on histopathological examination . Data showing that tumors in different anatomical sites (CNS vs extrarenal/extracranial vs renal = ATRT vs eMRT vs rhabdoid tumor of the kidney) differ at the molecular levels are still missing.…”

“…To date, spATRT have been reported only anecdotally. 7,8,[16][17][18] Because of the extramedullary localization of the previously reported spATRT, it is tempting to speculate that these patients The vast majority of previous series on ATRT revealed a male predominance. [3][4][5][6]15,19,20 In contrast, in the present series females were more commonly affected than males (8:5).…”

“…In a collaborative European effort, we collected clinical, treatment‐related, molecular, and follow‐up data of 13 patients with intramedullary spATRT. To date, spATRT have been reported only anecdotally …”

Atypical Teratoid/Rhabdoid Tumor of the Conus Medullaris

“…Intradural extramedullary involvement was the most common followed by intramedullary [5]. To date, there have been 14 pediatric cases reporting AT/RT of the conus medullaris (Table 1) [3,5,7,[13][14][15][16][17][18][19][20][21][22][23] and 1 case in an adult [24]. Intradural extramedullary and intramedullary tumors were predominant.…”

“…Cases with isolated spinal disease had tumor spanning between 1 to 7 spinal levels [3, 5, 13-16, 18-21, 23]. Three patients required additional surgery for local recurrence and metastasis despite achieving total resection with the initial surgery [5, 17, 20]. Nine patients died of disease progression at a mean follow-up 8.8 months (range, 2.5 weeks–22 months)[5, 7, 13-17, 21, 22].…”