Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature

Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children. There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult. We describe a case of an AT/RT of the spinal cord in an adult. A 43-year old woman presented with neck and left upper extremity pain. An MRI demonstrated a mass lesion in the dorsal spinal cord extending from C4 to C6. The patient underwent a C3 through C7 laminectomy. In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma. Molecular genetic studies revealed monosomy 22 and loss of expression of the INI1 gene in 22q11.2. Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT. The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor. Despite aggressive surgical resection, adjuvant chemotherapy and radiation therapy, the patient succumbed to the disease two and a half years after her initial presentation. An unrestricted autopsy was performed. To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.

Diffusion-weighted Imaging of an Atypical Teratoid/rhabdoid Tumor of the Cervical Spine

“…Spinal AT/RT is extremely rare; we found only 19 cases described in the English literature, [5][6][7][8][9] 18 within the spinal cord or intradural extramedullary portion and the remaining case, extradural. MR imagingˆndings of spinal AT/RT varied among these; signal intensity and enhancement were inhomogeneous in some tumors and relatively homogeneous in others.…”

Atypical teratoid/rhabdoid tumor in sellar turcica in an adult: A case report and review of the literature

“…[3238] Adult cases are rare and, as far as we are aware, only 42 cases have been reported to date [Table 1]. [2345910111213141516171821232425262729303133343536373941] Furthermore, there are only seven adult cases arising in the sellar turcica described in the literature. [224253034]…”

Incidence of atypical teratoid/rhabdoid tumors in children

“…6,7,10,13,15,17,18 Only single cases have been reported in adults. [22][23][24][25][26][27][28][29][30][31][32] Several large, hospital-based series established an atypical teratoid/rhabdoid tumor prevalence of 1% to 2% among pediatric brain tumors, 8,[33][34][35] but population-based data on the incidence of atypical teratoid/rhabdoid tumors in children are not yet available. However, such data provide important insights into the burden of disease and might contribute to patient care.…”