Unusually long survival of an adult patient with atypical teratoid/rhabdoid tumor of the sellar region: A follow-up report

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and very aggressive central nervous system neoplasm that is most often seen in infants and young children. The prognosis remains poor, with a median survival time of <1 year. Here, we report a follow-up on a case of AT/RT that originated in the sellar and suprasellar region in a 42-year-old female patient with unusually long survival.

Key-words:

Adult - atypical teratoid/rhabdoid tumor - central nervous system neoplasm - prognosis

Introduction

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and very aggressive central nervous system (CNS) neoplasm that is most often seen in infants and young children.[[1]],[[2]] About half of AT/RTs are found in the posterior fossa, but can also occur anywhere in the brain or spinal cord. Its clinical presentation varies with tumor location. Typically, a patient with AT/RT is treated with surgery and craniospinal radiation therapy, which is often followed by systemic chemotherapy. The prognosis for AT/RT is poor, with a median survival time of <1 year.[[1]],[[2]],[[3]] However the average survival of 20 months had been reported in adult population in recent systematic reviews.[[4]],[[5]] We have previously reported a case of AT/RT in a 42-year-old female, originated in the sellar and suprasellar region treated successfully with surgical resection along with radiotherapy and multidrug chemotherapy with short-term follow-up. Here, we present a 6-year follow-up of the same patient.[[6]]

Case Report

Our patient is a 42-year-old female presented to the emergency room in October 2013 with a history of severe headache associated with double vision and vomiting for 3 months prior to presentation. She denied galactorrhea, but her menstruation had ceased 2 months earlier before her presentation. She had no weakness or convulsion. She had no significant past medical history, and family history was unremarkable. She also denied using any medication. Physical examination revealed bilateral sixth nerve palsies with the pale optic disc; the rest of the examination was unremarkable. Initial pituitary hormone profiles revealed low level of cortisol 78nmol/L, and adrenocorticotropic hormone (ACTH) 8.4pmol/L. Other pituitary hormone levels including; growth hormone (GH) 0.5mIU/L; follicle-stimulating hormone (FSH) 1.2.1IU/L; luteinizing hormone (LH) <0.11IU/L; and FT4 was 16 pmol/l. Preoperative magnetic resonance imaging identified a large sellar mass with the suprasellar extension [[Figure 1]].

Figure 1: Baseline pituitary magnetic resonance imaging, coronal (a) and sagittal (b) images show evidence of an intrasellar mass with suprasellar extension, compressing and displacing the optic chiasm. Invasion to the cavernous sinus is noted, bilaterally with invasion of the clivus and destruction of the posterior clinoid

Whole-body computed tomography (CT) scans did not reveal any other neoplastic lesions or metastasis. Transsphenoidal approach and tumor resection were performed in November 2013 with subtotal resection of the sellar and suprasellar lesion. Postoperatively, the patient's neurological status remained unchanged. She developed diabetes insipidus that was treated with desmopressin and continued to require cortisol and thyroxin. The patient was discharged without complication. The histopathological study was consistent with the diagnosis of AT/RT [[Figure 2]]. The patient was treated with concurrent chemotherapy (vincristine) and radiotherapy 60 Gy in thirty fractions followed by six cycles of chemotherapy; ICE protocol (ifosfamide, carboplatin, and etoposide). The patient had a good clinical recovery without any significant toxicity or other complications [[Figure 3]]; however, bilateral sixth nerve palsy, optic atrophy, and panhypopituitarism persisted, which continued to require full hormonal replacement therapy, including desmopressin, thyroxin, cortisol, and female sex hormone. Seventy-four months postoperatively, the patient continue to have diplopia with no radiological evidence of recurrence since the initiation of therapy [[Figure 4]].

Figure 2: (a) Tumor is composed of sheets of undifferentiated cells with large area of necrosis (H and E stain, ˟100 magnifications). (b) INI-1 (BAF47) immunostain shows loss of nuclear staining in the tumor nuclei and retention of nuclear staining in the lymphocytes and endothelial cells (˟400 magnification). (c) Tumor cells have oval nuclei and prominent nucleoli with focal eosinophilic globular inclusions (H and E, ˟1000 magnification with oil)

Figure 3: Postoperative pituitary MRI (6 months’ post op): Coronal (a) and sagittal (b) images show post debulking of the previously seen large sellar and suprasellar tumor mass lesion, however residual sellar enhancing mass is noted with associated enhancing mass affecting the pituitary stalk and possibly invading the optic chiasm

Figure 4: Postoperative pituitary magnetic resonance imaging (April 2019): Coronal (a) and sagittal (b) images show postoperative changes seen at the sellar and suprasellar region with persistent displacement of the optic chiasm inferiorly and the pituitary stalk toward the left side with no definite residual or recurrent masses at the surgical bed

Discussion

AT/RT is a rare malignant CNS neoplasm usually diagnosed in children who are younger than 3 years of age, and it rarely occurs in adults with approximately only fifty cases reported in the literature so far.[[4]],[[5]] It can occur anywhere in the CNS, with the majority of these tumors occurring in the posterior cranial fossa. A digital online search using the combination of “adult” AND “atypical teratoid/rhabdoid tumor” OR “atypical teratoid/rhabdoid tumor” revealed 101 records in PubMed and 291 in Scopus databases (not mutually exclusive). Its occurrence in the sellar region is particularly rare, with only 31 cases reported in the literature to date [[Table 1]].[[5]],[[7]],[[8]],[[9]],[[10]]

Table 1: Summary of adult-onset sellar/suprasellar atypical teratoid rhabdoid tumors and patients’ age and gender in addition to management and outcome

Sellar AT/RTs have a female predominance, although male predominance with a reported ratio of 3:2–2:1 is notable for AT/RT outside the sellar region.[[11]] In most adult AT/RT cases, there are no consistent treatment protocols, and any decisions on treatment are extrapolated from the pediatric literature. Treatment typically consists of surgery, chemotherapy, and radiotherapy. However, patients treated with chemotherapy may survived longer than patients who were treated with only surgery and irradiation.[[12]]

Conclusions

The average survival of a patient with AT/RT is usually <2 years. However, aggressive resection followed by multimodality treatment in our patient yielded a much longer survival of approximately 74 months with no evidence of recurrence. The progress of knowledge in the management of adult AT/RT with a multidisciplinary approach along with the use of radiotherapy and multidrug chemotherapy might improve the approach to the management of AT/RT and successfully prolonged disease-free survival.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has/have given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initial will not be published, and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.

Authors' contributions

All authors contributed to the care of the patient, drafting of the case report, and revision and approval of its final version.

Compliance with ethical principles

Ethical approval was granted for this report by King Fahad Medical City's Institutional Review Board. The patient provided consent for publication as stated above.

Conflict of Interest

There are no conflicts of interest.

Financial support and sponsorship

Nil.

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Publication History

Received: 21 January 2020

Accepted: 26 March 2020

Article published online:
07 July 2022