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.
Reviewers:
Aly B Khalil (Abu Dhabi, UAE)
Khadija Hafidh (Dubai, UAE)
Khaled MA Al Dahmani (Al Ain, UAE)
Editors:
Salem A Beshyah (Abu Dhabi, UAE)
