|Ahead of print publication
Brain atypical teratoid rhabdoid tumor in an adult with long-term survival: Case report and review of literature
Rim Moujahed1, Khalil Ghedira2, Alia Zehani3, Slim Charfi4, Sonia Nagi5
1 Department of Radiotherapy, Abderrahmen Mami Hospital, Ariana, Faculty of Medicine of Tunis, University of Tunis-El Manar, Tunisia
2 Department of Neurosurgery, National Institute of Neurology, Tunis, Faculty of Medicine of Tunis, University of Tunis-El Manar, Tunisia
3 Department of Pathology, Rabta Hospital, Tunis, Faculty of Medicine of Tunis, University of Tunis-El Manar, Tunisia
4 Department of Pathology, Habib Bourguiba Hospital, Sfax, Faculty of Medicine of Sfax, University of Sfax, Tunisia
5 Department of Neuroradiology, National Institute of Neurology, Tunis, Faculty of Medicine of Tunis, University of Tunis-El Manar, Faculty of Medicine of Tunis, University of Tunis-El Manar, Tunis, Tunisia
|Date of Submission||22-Aug-2018|
|Date of Decision||13-Nov-2018|
|Date of Acceptance||24-Mar-2020|
|Date of Web Publication||19-Aug-2020|
Department of Neurosurgery, National Institute of Neurology, Rabta, 1007, Tunis
Source of Support: None, Conflict of Interest: None
Atypical teratoid/rhabdoid tumor (AT/RT) represents a rare malignant embryonic tumor of infant and early childhood. Its prognosis remains dismal despite aggressive multimodal treatment. We report the case of a 24-year-old male who was diagnosed with left parietal AT/RT after total resection and who is still in good health and recurrence free 4 years after surgery and adjuvant chemotherapy and radiotherapy.
Keywords: Adult, atypical teratoid/rhabdoid tumor, brain, survival
|How to cite this URL:|
Moujahed R, Ghedira K, Zehani A, Charfi S, Nagi S. Brain atypical teratoid rhabdoid tumor in an adult with long-term survival: Case report and review of literature. J Can Res Ther [Epub ahead of print] [cited 2020 Oct 20]. Available from: https://www.cancerjournal.net/preprintarticle.asp?id=292707
| > Introduction|| |
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and malignant embryonic tumor of the central nervous system (CNS). It occurs mainly in children younger than 3 years. This neoplasm is associated with an extremely poor prognosis, with survival seldom exceeding 1 year. We describe a case of brain AT/RT in a young adult patient with an event-free survival of 4 years.
| > Case Report|| |
A 24-year-old, right-handed young male presented with a 1-month history of headache with right hemi-body tingling and weakness. On admission, he had a right-sided hemiparesis with Gerstmann syndrome.
Brain computed tomography (CT) scan revealed a left parietal isodense mass including focal calcifications, with marked contrast enhancement and areas of necrosis. Magnetic resonance imaging (MRI) showed intra-axial heterogeneous lobulated tumor surrounded by peritumoral edema [Figure 1]a, [Figure 1]b, [Figure 1]c.
|Figure 1: Supratentorial atypical teratoid/rhabdoid tumor: axial computed tomography without contrast (a). Parietal spontaneously isodense mass with nodular calcifications. Magnetic resonance imaging: axial fluid-attenuated inversion recovery (b) and axial T1 postcontrast (c) weighted images. Left parietal solid mass with lobulated margin. This lesion is iso and hyperintense on fluid-attenuated inversion recovery with vasogenic edema and mass effect on the lateral ventricle and midline. It is intense but with heterogeneous enhancement. Axial T1 postcontrast images after treatment (d). Remission with slight hypointensity without enhancement|
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A left parietal craniotomy was achieved, and gross total removal of the tumor was performed. The lesion was described as grayish, fibrous, and hemorrhagic. The postoperative course was uneventful.
Pathological study revealed a highly dense tumor. The tumor cells were large, were plump and polyhedral or fusiform, and holding intracytoplasmic eosinophil inclusions. They harbored prominent nuclei with eccentric nucleoli, corresponding to rhabdoid morphology. Immunohistochemistry staining for vimentin and epithelial membrane antigen was positive, while INI 1 one was negative [Figure 2]. The Ki-67 labeling index was 10%. These findings were compatible with the diagnosis of AT/RT.
|Figure 2: Photomicrographs of the pathological sample. Rhabdoid cells with abundant eosinophilic cytoplasm, vesicular chromatin, and prominent nucleoli (a, H and E, ×40). Tumor cells showing strong expression of vimentin (b) and diffuse positivity for epithelial membrane antigen (c). INI1 staining is negative (d)|
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A lumbar puncture was performed at the 10th postoperative day to evaluate for CNS drop metastases, and no malignant cells were identified. The patient received chemotherapy according to the Medical University of Vienna-AT/RT regimen consisting of three 9-week courses of a dose-dense regimen including doxorubicin, cyclophosphamide, vincristine, ifosfamide, cisplatin, etoposide, and methotrexate augmented with intrathecal therapy, followed by high-dose chemotherapy. Then, he underwent conformal three-dimensional radiotherapy to tumor bed at 54 Gy (fractions of 1.8 Gy). This chemoradiation adjuvant treatment was overall well tolerated.
At 1 year after treatment, the patient recovered normal motility, and control MRI showed no residual tumor or recurrence [Figure 1]d. At the last routine follow-up, 4 years after surgery, the patient remains symptom free.
| > Discussion|| |
AT/RT is a rare Grade IV embryonic tumor according to the World Health Organization classification of CNS tumors. Children under 3 years of age are the most involved population.
To the best of our knowledge, about sixty cases of adult-onset AT/RT are reported in the literature, with only eight cases of brain AT/RT with survival for more than 3 years [Table 1].,,,
|Table 1: Brain atypical teratoid/rhabdoid tumor adult cases with survival >3 years|
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Adult AT/RT involves mostly brain hemisphere or sellar and suprasellar region, while pediatric form is quite often infratentorial.
AT/RT has no specific neuroimaging features. On CT scan, the lesion is iso to hyperdense with eventual calcifications and enhancing heterogeneously after contrast medium administration. MRI scan shows classically a large mass, hypo-intense on T1-weighted images and iso to hyper-intense on T2-weighted images, with a thick and irregular enhancing wall surrounding a central cystic region.,
The diagnosis of AT/RT is suspected on pathological study, revealing rhabdoid cell morphology with possible combination to primitive neuroepithelial, epithelial, and mesenchymal components. Confirmation is based on immunohistochemistry: tumor cells are negative for INI 1, or by the fluorescence in situ hybridization method.
Due to the rarity of AT/RT, no consensual treatment has been established yet. The actual optimal treatment is based on gross total resection followed by adjuvant radiotherapy and intense chemotherapy.
The prognosis of AT/RT is particularly poor because of the high incidence of local recurrence and leptomeningeal dissemination. Adult-onset AT/RT has a better outcome than pediatric AT/RT, probably due to the ability to treat more aggressively. In the last literature review of adult AT/RT cases (54 cases), the median survival rate was 18 months (0.5–204 months). Cases of brain AT/RT with survival >3 years [Table 1] were predominantly cases harboring brain hemisphere tumor. Among them, patients who experienced tumor recurrence did not receive optimal treatment initially: gross total resection plus chemotherapy and radiotherapy.
To date, no biological prognostic factor has been determined for AT/RT that could explain long-term survival cases.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]