Abstract

Purpose: The present article describes a patient with an atypical teratoid/rhabdoid tumor of the pineal region and a literature review about this uncommon pathology. Methods: Literature review about Atypical Teratoid Rhabdoid Tumor between March and July of 2023 using 7 databases: Web of Science, Pubmed, Cochrane Library, SCOPUS, Science Direct, Clinical key and Medscape. Clinical features: A 33-month-old patient with an Atypical Teratoid Rhabdoid Tumor (ATRT) of the pineal region presented headache, VI cranial nerve paralysis, bilateral ataxia and loss of sphincters control during 3 months. Intervention: Endoscopic ventriculostomy with biopsy that reported ATRT. Conclusions: Recent statistics show that this tumor has been underdiagnosed throughout the time and evaluation of surgical material by a neuropathologist is required for its correct diagnosis.

Introduction

The atypical Teratoid Rhabdoid Tumor was first described as a distinct type of central nervous system (CNS) rhabdoid tumor in 1987 and it was further described in 1996, affecting children younger than 3 years old with a generally poor prognosis ^[1]. 90% of ATRT cases were attributed to the mutation or deletion of chromosome 22q ^[2].

ATRT is extremely rare and represents less than 10% of all CNS tumors in pediatric patients ^[3]. Its most frequent location is in the infratentorial region (68%) and its worldwide incidence is 0.7 per 100,000 habitants. This tumor often occurs in the posterior fossa with only rare studies reporting ATRT in the pineal region. When it’s diagnosed, one third of the patients have evidence of dissemination in the cerebrospinal fluid (CSF) ^[4]. Recent reports show that ATRT contributes to almost 6% - 7% of all CNS tumors in patients younger than 7 years old ^[5,6,7].

The most common clinical presentation of ATRT in a young child with CNS tumor is macrocephaly, hydrocephalus, seizures, headache, nausea, vomit and dizziness, although focal neurological deficits are relatively uncommon ^[8].

The radiological characteristics of an ATRT in MRI, is a large, heterogenous and expansive lesion with cystic, necrotic and hemorrhagic areas ^[9-11] making it indistinguishable from a medulloblastoma or a neuroectodermal tumor, therefore, the histopathology along with immunohistochemistry is necessary for a definitive diagnosis ^[1,2,12,13].

ATRT has a complex histopathological diagnosis, since immunohistochemical tests are needed such as an epithelial membrane antigen, glial fibrillary acid protein, synaptophysin, among others ^[14].

There’s a large variety of treatments that literature describes including surgical procedures, chemotherapy and radiotherapy adjuvant with different rates of survival ^[15].

We present the first case report of an ATRT in the pineal region from the Hospital Regional De Alta Especialidad Del Bajío, Leon, Gto, México.

Case description

A 33 month old male began his symptoms in 2017 with progressive headache, loss of eye movement characterized by bilateral paralysis of the VI cranial nerve, bilateral ataxia, loss of head support and sphincter control and intracranial hypertension symptoms. A CT scan and MRI showed a lesion with heterogeneous signal intensity and contrast enhancement in the pineal region (Figs 1,2).

An endoscopic ventriculostomy of the third ventricle and biopsy was performed. The histopathological result confirmed that the lesion corresponded to a ATRT by means of immunohistochemical techniques, positive to: Epithelial membrane antigen (EMA), Glial fibrillary acid protein (PAGF), focally to actin (HHF35), synaptophysin (SYN), neuronal specific enolase (ENE) and CD99 (Fig 3).

The patient presented post-surgical neuroinfection, with nuchal rigidity and irritability. The ventriculoperitoneal shunt valve was replaced for an external shunt while the neuroinfection was treated with antibiotics. The replacement was performed after the CSF came negative, and the patient began chemotherapy, followed up for 6 months until passed away.

Figure 1. Figure 1: CT scan A) Axial section at the level of the 3rd ventricle showing a tumor lesion with areas of necrosis. B) Coronal section showing dilation of the ventricular system and lesion in the pineal region.

Figure 2. Figure 2: Cranial MRI Coronal A) and sagital B) section showing a heterogeneous mass, multilobed, with necrosis, cystic areas and dilated lateral ventricles.

Figure 3. Figure 3: Histological section of Rhabdoid tissue with fasciculated immature areas and loose cells interspersed with dense collagen, cells with abundant pale pink cytoplasm, clear and vacuolated, a round prominent nucleus of scattered chromatin.

Discussion

Pineal tumors are relatively rare CNS lesions, with a predilection for the pediatric population. Establishing an accurate histologic diagnosis is critical for effective treatment of these tumors. Aggressive tumor resection is indicated for ATRT and surgery should typically be followed by chemotherapy or radiation ^[16,17].

Although ATRT can occur in any part of the nervous system, approximately 50% of cases occur in the posterior fossa. Male patients are slightly more affected than females, approximately 1.5:1. Because of its malignancy ATRT can spread and travel via CSF in the early stages, 30-40% of patients present metastases at the time of detection ^[18,19].

According to the reviewed literature, this type of tumor is very rare and there's a higher survival rate with increasing age at the diagnosis.

Two studies of the European Rhabdoid Registry reported 4 pineal ATRT out of a total of 62 patients and 5 pineal ATRT out of 143 patients with SNC tumors respectively, confirming the unusual presentation of this pathology ^[20,21].

The histopathological characteristics include presence of polygonal cells with roughly ovoid vesicular nuclei; prominent single and fairly central nucleoli; variable amounts of eosinophilic cytoplasm, and hyaline globular cytoplasmic inclusions in scattered cells ^[22,23]. Also, the immunochemistry and histopathological analysis shows a poorly differentiated malignant neoplasm, with this analysis is possible to visualize cells with a prominent nucleoli and broad cytoplasm, large hyperchromatic nuclei, associated with numerous mitoses, and apoptosis, as well as loss of integrase interactor-1 (INI-1), BRG1 protein, and a high Ki-67 proliferation index. ATRT can occur virtually in all locations of the central nervous system, including the pineal and suprasellar regions ^[24,25].

Treatment is based on total or subtotal resection, followed by chemotherapy and radiotherapy. Due to the proximity of the pineal region to the vein of Galen´s draining system and the quadrigeminal plate the surgical resection of ATRT of this region is challenging ^[26]. The survival rate of these patients is less than 46.8% in the following year ^[1]. Survival improves when diagnosis is performed at an older age, this is also described in other studies when the patient receives adjuvant treatment after surgical intervention ^[27-30].

Conclusion

ATRT is a rare neoplasia that was recently described and has an aggressive behavior; however, surgical and oncological management is extremely important to extend the survival rate of the patients. Recent statistics show that this tumor has been underdiagnosed throughout the time and that evaluation of surgical material by a neuropathologist is required for its correct diagnosis.

Declarations

Conflict of interest

No conflicts of interest are reported by the authors.

Funding Statement

All authors have declared that no funding was received from any organization for the submitted work.

Statements and Declarations

The authors did not receive support from any organization for the submitted work.The authors have no relevant financial or non-financial interests to disclose.

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