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Year : 2007  |  Volume : 2  |  Issue : 1  |  Page : 1-6

Atypical teratoid/rhabdoid tumors of central nervous system

1 Department of Neurosurgery, Himalayan Institute of Medical Sciences, Dehradun, UA, India
2 Department of Neurology, Himalayan Institute of Medical Sciences, Dehradun, UA, India

Correspondence Address:
K K Bansal
Department of Neurosurgery, Himalayan Institute of Medical Sciences, Dehradun, UA
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.31997

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Aims and Objectives: To review the clinical features and current understanding of the epidemiology, biology and management of pediatric atypical teratoid/rhabdoid tumors and analyzing the different treatment modalities. Materials and Methods: The MEDLINE database, bibliographies of selected articles and current English-language texts on the subject were reviewed. A Pubmed search was made with keywords pediatric atypical teratoid/rhabdoid tumors, intracranial, surgery, chemotherapy and radiotherapy. Most recent articles and also significant older articles having all above said words were selected and their results were reviewed in detail. Results: Atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system (CNS) most frequently diagnosed in smaller than 3 years of age and incidence is 1-2% of all brain tumors in children. 63% of the AT/RT of the CNS is seen in infra-tentorial compartment, there are no precise imaging features that differentiate AT/RT from the other posterior fossa tumor. The "rhabdoid" cells are characteristic on cytopathology. It has been established now that CNS, AT/RT often show deletion of the long arm of chromosome 22q11.2. The initial treatment for most children with AT/RT is surgical with and without cerebrospinal fluid diversionary procedure. Children with less than 3 years of age offered chemotherapy but in older children radiotherapy is given in addition.

Keywords: Pediatric, intracranial, atypical teratoid/rhabdoid tumors, surgery, chemotherapy and radiotherapy

How to cite this article:
Bansal K K, Goel D. Atypical teratoid/rhabdoid tumors of central nervous system. J Pediatr Neurosci 2007;2:1-6

How to cite this URL:
Bansal K K, Goel D. Atypical teratoid/rhabdoid tumors of central nervous system. J Pediatr Neurosci [serial online] 2007 [cited 2022 Jan 22];2:1-6. Available from: https://www.pediatricneurosciences.com/text.asp?2007/2/1/1/31997

   Introduction Top

Atypical teratoid/rhabdoid tumors (AT/RT) of central nervous system (CNS) is rare and very aggressive malignant lesion of early childhood. Because of both the infrequency and rapid course of disease, consensus has not been made for the standard treatment so far. [1],[2],[3],[4],[5] Beckwith and Palmer In 1978 first described a histological variant of Wilm's tumor that occurred primarily in infants and was correlated with extremely poor prognosis. [6] It was subsequently called malignant rhabdoid tumor - meant for the reason that the tumor looked like a rhabdomyosarcoma, but the cells did not demonstrate usual morphological or immunohisto-chemical features of muscle. [7] A CNS tumor composed of rhabdoid cells was first reported in 1985, [8] but the unique clinical and pathological features were not well defined until 1995-1996. [1],[9] Since approximately 70% of these tumors contain fields indistinguishable from Medulloblastoma or primitive neuroectodermal tumor, pathologists by and large gave one or the other diagnosis. The histological diagnosis is not easy, as there may be considerable microscopic overlap with these embryonal tumors. [10],[11] However, study of these tumors with high index of suspicion even in routine H&E stains disclosed fields of rhabdoid cells with or without areas of primitive neuroepithelial cells and in a quarter to a third of samples, mesenchymal and/or epithelial elements were seen as well. Thus, even though such a combination of divergent tissue types suggested that these tumors were teratomas, although they lacked the standard features essential for such a diagnosis. The diagnostic term that seemed most suitable was AT/RT and so it was coined. [1],[9],[12] The histogenesis of this curious and highly malignant tumor of the early childhood has remained unidentified. [13],[14],[15] Regarding effective therapy of these tumors till date no standard protocol has been set-up and overall survival even after multidisciplinary efforts like surgery, radiation and chemotherapy has not improved significantly. [1],[16],[17]

   Epidemiology Top

AT/RT of the CNS most frequently occurs in infants or neonates, the majority of patients diagnosed being smaller than 3 years of age [1],[18] although it not often seen in older children's as well, 70% v/s 30% [1],[16] The mean age at diagnosis ranges from 17 to 29 months. [1],[5],[14],[18] These tumors are somewhat more frequent in boys [3-4: 1-2, male: female ratio] in younger than 3 years age group but in children's older than 3 year the ratio is not consistent. [16],[18] Their incidence is 1-2% of all brain tumors in children, while some investigators report that 6.7% of CNS tumors in infants 0 to 2 years were AT/RT. [1],[19],[20],[21] Most common location is infratentorial [60-70%] in the cerebellum or CP angle and rest in supratentorial, spinal or multifocal. ATRT of CNS has recently shown some age specific site preference, posterior fossa is the most common site in younger than 3 but in older than 3 preferred location for the development of this tumor is supratentorial. [1],[ 9],[12],[16],[18] AT/RT has been reported in an in-utero infant, a pregnant female and also in a patient of neurofibromatosis-1, in both of the later tumor was supratentorial. [1],[22],[23]

Prognosis in patients younger than 3 years is very grim if compared with older then 3-year children. Moreover, younger patients are more likely to present with metastatic disease at diagnosis and tend to develop progression with higher frequency and earlier in the course of treatment than older children's. [9],[16] The results of Hilden et al suggested that older children diagnosed with AT/RT have better survival. [17]

   Clinical Presentation of CNS AT/RT Top

Since rhabdoid tumors were originally found in the kidney, such tumors have been described in many different organs and soft tissues, as well as in the CNS. 63% of the AT/RT of the CNS is seen in infra-tentorial compartment, rest arises in supratentorial [27%] or 8% may be multifocal. [1],[12],[14],[20] While the cerebellum and cerebral hemispheres are the most common locations, these tumors have a predilection for the cerebello-pontine angle. [1] They may also arise in the spinal cord, pineal gland and supra-sellar region. [1],[14],[20] Posterior fossa is a favorite location in children younger than 3 years, as opposed to older children; the few examples in adults are almost exclusively in the cerebrum. [1],[20],[24] A small group of children have both renal and CNS rhabdoid tumors which most likely represent meta-chronous tumors, possibly due to a germ-line mutation in the hSNF5 gene [see Molecular Pathology below].

Infants whose cranial sutures have not yet fused tend to present with non-specific symptoms such as macro-cephalic, lethargy, vomiting and/or failure to thrive. [1],[18] Older children present with head tilts [IV nerve palsy], diplopia [VI nerve palsy], facial weakness [VII nerve palsy], headache and/or hemiplegia. [1] The majority of children with posterior fossa AT/RT have hydrocephalus at presentation due to obstruction of the cerebrospinal fluid (CSF) flow at the fourth ventricle. The set of clinical signs and symptoms in children with AT/RT is similar to those children with PNET/medulloblastoma [PNET/MB] or any other tumor in posterior fossa. One-third of children with AT/RT present with Leptomeningeal spread of tumor at diagnosis, a rate similar to that seen in children with PNET/MB. [1,18] There was no noticeable difference in age of the patient for metastatic disease and those who do not, but recent studies showing that dissemination of the disease is early and with higher frequency in patients younger than 3-year. [1],[16] Examination of the CSF at the time of diagnosis revealed malignant cells one third of the patients and CSF may be positive even when cranio-spinal imaging is negative. [1,14]

   Imaging of AT/RT Top

The imaging procedure of choice in children with AT/RT is a cranio-spinal MRI with and without gadolinium [Figure - 1],[Figure - 2]. The tumor shows low signal intensity on T1 weighted images and isointense or decreased signal on T2 weighted images. [1] Cysts and hemorrhages are commonly seen. These tumors can be of heterogeneous intensity with heterogeneous enhancement with peripheral cystic components. [25] Obstructive hydrocephalus and peri-ventricular lucency may be seen, especially with tumors located in the posterior fossa that block the fourth ventricle or its outlet foramina. The main tumor mass enhances inhomogeneously after administration of gadolinium. Leptomeningeal spread appears as diffuse enhancement of the meninges and/or enhancing clumps along the spinal cord and cauda equina as drop metastasis. All of these features are similar to those seen in PNET/MB and, in fact, there are no precise imaging features that differentiate AT/RT from the PNET/MB. Some children may undergo CT scanning as part of their diagnostic work-up. As with PNET/MB, the AT/RT appears as a hyperdense lesion on an unenhanced CT scan, presumably due to the high cellularity of the tumor. [1]

   Gross and Microscopic Pathology of AT/RT Top

Macroscopic features of these tumors differ in no way from those of PNET/MB. They are soft, pinkish-red, necrotic and/or hemorrhagic. Those with a prominent mesenchymal component may be firm and contain tan-white foci. Tumors primarily in the cerebello-pontine angle may incorporate cranial nerve roots in the vicinity. Leptomeningeal deposits display no specific distinguishing features and are basically similar to PNET/MB. On section, these tumors tend to infiltrate and have poorly-demarcated margins.

Microscopic characteristics of AT/RT are variable, although it is self-evident that they must contain rhabdoid cells [Figure - 3]. Some tumors consist of only this cell type, whereas more commonly there is a mixture of rhabdoid fields and areas indistinguishable from classical PNET/MB. [1],[12],[26] Although this portion may rarely contain Flexner-Wintersteiner or Homer Wright rosettes, neither desmoplastic nor the nodular-neuroblastic histological types have been observed. Basically, the PNET/MB portions simply consist of small primitive-appearing neuroepithelial cells. [27]

The typical rhabdoid cell is of medium to large size and consists of an eccentric nucleus adjacent to which is eosinophilic cytoplasm equal to or larger than the size of the nucleus. [1],[18] This tends to be round or slightly bulbous and may have a faint pink rim accentuating a denser pink core. Many nuclei contain a prominent nucleolus. Mitotic figures are frequent. The rhabdoid cells may range from small to large size, pale cells may sometimes-containing two nuclei, in a jumbled architectural arrangement. [1],[14] The small cell component resembled Medulloblastoma and rarely had cords of cells in a mucinous background, imitating chordoma. The cytoplasm of the larger cells is prominent with a somewhat "rhabdoid" appearance, although rhabdoid features were not-always prominent. [9],[14]

Rhabdoid and PNET fields tend to remain separate, as do the epithelial and mesenchymal components, although there are no sharply delineated margins. A recognizable epithelial component, which may be adenomatous or squamous, occurs in about a quarter of the tumors, although a much higher number of tumor cells express epithelial antigens. A small group of these tumors may mimic Choroid plexus carcinoma; hence this possibility should be kept in mind. In addition, about one-third of tumors contain neoplastic mesenchymal elements, which, in the extreme, mimic sarcomas. [1]

These tumors often exhibit large areas of necrosis, mitoses and hemorrhage, but intrinsic vasculature generally manifests no distinctive features. [1],[12]

Certainty in making a specific histological diagnosis of AT/RT may be improved by studying the tumor with a panel of monoclonal antibodies. Most helpful are the following: epithelial membrane antigen (EMA), vimentin (V), smooth muscle actin (SMA), keratin (K), glial fibrillary acidic protein (GFAP) and neurofilament protein (NFP). [1],[12],[14],[18] Desmin is rarely expressed by the neuroepithelial cells, but not by rhabdoid cells. Markers for germ cells are consistently negative. [1]

The pattern of expression of these antigens is complex; hence attention must be paid to which specific cellular component is expressing the antigen. The rhabdoid cells typically express vimentin and EMA, but SMA less frequently. [1],[18] They may also express K, GFAP and/or NFP. The neuroepithelial cells express only GFAP and/or NFP, whereas the epithelial component expresses K plus or minus EMA; the mesenchymal cells typically express vimentin and SMA. [1]

Ultra structural findings vary, depending upon sampling. The classical, but not pathognomonic finding in the rhabdoid cell consists of large bundles of intermediate filaments in the cytoplasm.

   Cytomorphological Features Top

For cytological study of these tumors materials can be obtained from smear scraping, squash preparation or fine needle aspiration. [27] Cyto-morphological study of the tumor shows hyper-cellularity, primarily large tissue fragments with tumor cells adjacent to growing capillaries illustrating a "papillary-like" appearance and characteristic "rhabdoid" cells i.e., intermediate-sized cells with granular or fibrillary, brilliantly eosinophilic cytoplasm with or without globoid "inclusions"; large, eccentrically located, single nucleoli, small, round, primitive "neuronal-appearing" cells with a high nuclear to cytoplasmic ratio, speckled chromatin and atypical, occasionally multinucleated giant cells. In addition, few apoptotic bodies, mitoses, considerable necrosis and prominent dystrophic calcification may be found. [27]

   Molecular Pathology of AT/RT Top

It has been established now that CNS, AT/RT often show deletion of the long arm of chromosome 22q11.2, further molecular studies have led to the identification of a rhabdoid suppressor gene [INI1/hSNF5] at said location. [1],[4],[9],[16],[17],[28],[29] Somatic mutations in this gene predispose children to develop AT/RT. [17],[28] Earlier, this was often the only karyotypic change seen in this tumor and it was thought that a tumor suppressor gene was contained to that region. Furthermore, it was suggested that loss of one copy of chromosome 22q could distinguish an AT/RT from a PNET/MB, which is frequently associated with loss of 17p/isochromosome 17q. Later, Versteege et al identified deletions and truncating mutations of the hSNF5 gene on chromosome 22q11 in a series of cell lines derived from renal rhabdoid tumors. [28] The hSNF5 protein is highly conserved and is not greatly changed between flies, mice and humans. The hSNF5 protein is the smallest member of a family of proteins that form a complex, which regulates the DNA through changes in the nucleosome (a fundamental 'unit' of DNA). By 'winding' and 'unwinding' DNA, this complex changes the configuration of genomic DNA, thus allowing or denying transcription factors access to the DNA and changing gene expression patterns.

Biegel et al subsequently identified somatic mutations of hSNF5 in a series of CNS AT/RT. [30] Some children with AT/RT are born with heterozygous germ-line mutations of the hSNF5 gene, suggesting that these children were predisposed to develop AT/RT. [30] In most cases, these germ-line mutations are de novo (a new mutation, not inherited from the parents), but in some instances, they may be inherited from phenotypically normal parents. [30],[31] Individuals and families with germ-line mutations of hSNF5 are also at increased risk to develop carcinoma of the choroid plexus. [31] However, it remains to be determined whether these are true choroid plexus tumors or AT/RT which may sometimes be misdiagnosed as a choroid plexus carcinoma.

Heterozygous mSNF5 ± 'knockout' mice develop tumors resembling AT/RT, supporting the role of hSNF5 as a tumor suppressor gene. [19] Although most AT/RTs show evidence of some genetic derangement at the hSNF5 locus, mutational analysis of the hSNF5 gene in a series of PNET/MBs discovered mutations in only 4/52 tumors. [32] Of those 4, 2/4 were re-classified, as AT/RT on re-examination of the pathology, but there was insufficient clinical material to establish an accurate diagnosis in the other two cases. This suggests that tumors diagnosed as PNET/MB with hSNF5 are most likely AT/RT. Such confusion is not surprising, given the large number of AT/RTs, which contain fields indistinguishable from PNET/MB. While mutation/deletion of hSNF5 is not currently sufficient for a diagnosis of AT/RT, it appears to be related to the clinical outcome and hence, searching for it is becoming part of the diagnostic work-up. Over-expression of osteopontin gene has been reported as a potential diagnostic marker for atypical teratoid/rhabdoid tumor. [33] In one study, Alpha-internexin expression is seen in the atypical teratoid/rhabdoid tumors, indicate that these primitive tumors usually exhibit neuronal differentiation. [34]

   Treatment of AT/RT: Surgery Top

The initial treatment for most children with AT/RT is surgical. Children presenting in extremis with severe hydrocephalus require a cerebrospinal fluid (CSF) diversionary procedure, either a ventriculostomy, a ventriculo-peritoneal shunt or, more recently, an endoscopic third ventriculostomy. [35] Most children undergo a craniotomy, with maximal safe resection of tumor. The interface of the AT/RT and cerebellum may be abrupt or infiltrative and ill defined. [14] Total or near total, resection of the tumor is feasible in about 50% of patients. [1] While surgery is excellent for reducing the mass effect, children who receive surgery alone with no adjuvant therapy typically die within one month after surgery. [1] There is no high quality, prospective data on the value of surgical resection in the management of AT/RT, but in patients with PNET/MB, progression-free survival in children without disseminated disease at diagnosis is 20% better if the amount of residual tumor post-operatively is less than 1.5 cm3 compared to children where the amount of residual tumor was greater than 1.5 cm3. [36] Gross total resection is feasible in 64% of patients with younger than 3 year while its possible in 78% children more than 3-years of age. 81% of patients younger than 3-year at diagnosis develop recurrent disease with in 3 months after surgery and recurrence is mainly local in more than 70% of patients. [16]

   Treatment of AT/RT: Chemotherapy Top

Most children with AT/RT receive chemotherapy at some point during their clinical course, especially those less than 2 years of age, in view to delay radiation therapy. Several different chemotherapeutic regimens have been tried, including baby Pediatric Oncology Group (POG) protocols, eight drugs in one day, single agent cyclophosphamide and single agent ifosphamide. [1] Most of these regimens were chosen based on their efficacy in treating PNET/MB. However, patients with AT/RT respond poorly to chemotherapy and only 6/33 children who received chemotherapy alone after surgery or chemotherapy prior to radiation had a 'response' as defined by greater than 50% reduction in tumor mass. [1] In addition, most responses were short-lived, the longest being 10 months. [1] Some AT/RTs have been documented to progress during the course of chemotherapy. [14] In contrast to the older children, recurrent or progressive AT/RT in children 3 years or younger appears refractory to chemotherapy. [16] Two children treated with high-dose chemotherapy, followed by autologous bone marrow transplant had a good response, with one child surviving 19 months and another alive and well at 46 months of follow-up. [3] There is one report where chemotherapy previously described for use in patients with parameningeal rhabdomyosarcoma, was administered to three patients with AT/RT. Therapy included surgery, radiotherapy, chemotherapy and triple intra-thecal chemotherapy. All three patients were reported to be alive and well, with no evidence of disease at 5 years, 2 years and 9 months, respectively. [37] This exciting result awaits confirmation in larger, prospective trials. In one retrospective study, median survival with chemotherapy in younger than 3-year is 0.3 yr and with Radiation in older than 3 was 0.4 yr and median survival is 0.6 yrs in those who received both chemotherapy and radiation. [16] Hilden et al reported event free survival of 16 months in children older than 3 in comparison to only 7.7 months in younger than 3 year, their patients treated with surgery and chemotherapy only. [17]

   Treatment of AT/RT: Radiotherapy Top

Most children diagnosed with AT/RT are usually less than 2 years of age, so, because of toxicity of radiation to young brains, radiotherapy is initially not offered. Currently, the goal is to continue with chemotherapy until the child is at least 2 or 3 years of age, at which time, radiation effects are less severe. As children with AT/RT commonly present with Leptomeningeal spread or else develop it at the time of relapse, it is desirable to administer cranio-spinal radiotherapy, in addition to treatment of the primary tumor. Some authors have advocated a boost of radiation to the primary tumor by conventional means or by stereotactic radiosurgery at the time cranio-spinal therapy are administered. However, radiotherapy does not seem to alter the progression of disease in children with AT/RT; indeed, an objective response to radiotherapy was obtained in only 2/10 patients. [1],[14] Recently gamma knife has also been used; but there are only two reports of the use of gamma knife performed in patients with AT/RT that resulted in local control of the post-operative lesion. [38],[39] In recent studies radiotherapy has shown promising results with prolonged survival of older children and adults with ATRT and it appears most effective if administered early in the course of treatment, though the unacceptable sequelae of cranial radiation in infants and young's preclude its use. [13],[16] In spite of these inconsistent statistics, children who are between 2 and 3 years of age and older will receive radiotherapy at some point in the course of their disease.

   Outcome Top

The prognosis for children with AT/RT is bleak. The median time to progression is 4.5 months and the median reported survivals range from 6-11 months. [1],[14],[16] Currently, the longest reported surviving patient was a 3-year-old girl who survived 5.5 years after presenting with a thalamic tumor that was treated with craniospinal irradiation. At relapse, the disease may be local (31%), in the leptomeninges (11%) or both (58%). [1] At postmortem examination, 10/11 children with AT/RT had widespread Leptomeningeal metastatic disease. [1] Obviously, current treatments for this tumor in the form of surgery, chemotherapy and/or radiation are not sufficient. Identification and characterization of the rhabdoid tumor predisposition gene on chromosome 22q may allow development of more focused, effective therapeutic agents which may increase survival time.

   References Top

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