A case of atypical teratoid/rhabdoid tumor in an adult, with long survival

Abstract

Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant tumor that mostly occurs in early childhood and has poor prognosis despite aggressive therapy. Adult cases are rare and, as far as we are aware, only 30 cases have been reported to date. Here we present the case of a 27-year-old female with left parietal AT/RT with the chief complaint of numbness of the right superior limb. First, the tumor was surgically removed and the diagnosis was grade II glioma. With additional radiotherapy, the clinical course after surgery was favorable. After 6 years, she had an operation for recurrence and the diagnosis was grade III glioma. Temozolomide was prescribed, and a disease-free period of 2 years followed. Surgery was performed for a third time for second recurrence with histology of diffuse growth of rhabdoid cells. Immunohistochemistry was partially positive for vimentin and epithelial membrane antigen. Ki-67 labeling index was extremely high and tumor cells showed no staining of INI1 suggestive of diagnosis of AT/RT. We re-evaluated past specimens and none had immunoreactivity of INI1. Ki-67 labeling index and O-6 methylguanine DNA methyltransferase (MGMT) staining were also re-examined and both increased gradually. She is still alive without recurrence for more than 1 year. As far as we are aware, this is the second longest survival of an adult with AT/RT.

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

“…[36] A recent report suggest that cerebral location of an AT/RT renders the tumor amenable to gross total resection as well as aggressive adjuvant chemoradiation therapy available in adults, which would not be tolerated by small children. [35] Therefore, immunohistochemical verification of this entity is very important for a proper treatment and better prognosis and AT/RT must be considered in the diagnosis of a high-grade tumor regardless of age.…”

“…[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]…”

Bone Involvement in Atypical Teratoid/Rhabdoid Tumors of the CNS

“…16,17 Among the tumors in children below 1 year of age, AT/RT is now found nearly as frequently as CNS primitive neuroectodermal tumor/medulloblastoma. 7,18 Rarely, adults are diagnosed with AT/RT, which in this age group are mainly supratentorial, in contrast to young children, in whom infratentorial tumor location predominates. 18,19 In addition to the high cellularity of the tumor reflected by low signal on T2-weighted and ADC images, 20 bleeding residues, peripheral cysts, and a distinct pattern of contrast enhancement have been described as frequent findings.…”

“…7,18 Rarely, adults are diagnosed with AT/RT, which in this age group are mainly supratentorial, in contrast to young children, in whom infratentorial tumor location predominates. 18,19 In addition to the high cellularity of the tumor reflected by low signal on T2-weighted and ADC images, 20 bleeding residues, peripheral cysts, and a distinct pattern of contrast enhancement have been described as frequent findings. [11][12][13]21 Rare reports of patients affected by AT/RT demonstrating involvement of the skull in children and adults exist.…”

Atypical teratoid/rhabdoid tumor of the brain in an adult with 22q deletion but no absence of INI1 protein: a and review of the literature

“…In the 1990s, it was observed that AT/RT often demonstrates a loss of all or part of chromosome 22 [2,14]. But to our knowledge, AT/RTs have been reported in adults only in rare cases in the literature [11,13,[15][16][17], and only a few cases of AT/RTs have been investigated by comparative genomic hybridization (CGH) [4,18]. Studies have shown that the wide absence of recurrent genomic alterations other than SMARCB1 aberrations was recently confirmed in whole exome sequencing [9].…”