Long-term survival of a patient with diffuse midline glioma in the pineal region: A case report and literature review

Background: Diffuse midline glioma (DMG) is an invasive astrocytic tumor arisen from midline structures, such as the pons and thalamus. Five cases of DMG in the pineal region have been reported, but the clinical course was poor; there was no case of survival for more than 2 years. Case Description: We report the case of a 12-year-old boy with DMG in the pineal region who is living a normal daily life for more than 6 years following multimodal treatment. He complained of a headache accompanied by vomiting that had gradually worsened 1 month previously, and initial magnetic resonance imaging revealed a pineal tumor. Germinoma was initially suspected; however, a combination of chemotherapy using carboplatin and etoposide was ineffective. The first surgery was performed through the left occipital transtentorial approach (OTA); the diagnosis was DMG. After 60 Gy radiotherapy concomitant with temozolomide (TMZ), the tumor enlarged. Second surgery was performed through bilateral OTAs, and 90% of the tumor was removed. In addition, stereotactic radiotherapy (30 Gy, six fractions) was administered, and the local equivalent dose in 2 Gy/fraction reached 97.5 Gy. Maintenance chemotherapy using TMZ and bevacizumab was continued for 2 years. After finishing chemotherapy, the enhancing lesion enlarged again, and bevacizumab monotherapy was effective. Now, at 6 years after diagnosis, the patient leads an ordinary life as a student. Conclusion: Maximum resection and high-dose radiotherapy followed by bevacizumab may have been effective in the present case.

CS-5 A case of anaplastic pleomorphic xanthoastrocytoma in the pineal region

Tumors in the pineal gland are rare tumors that account for about 0.3% of all brain tumors and have various histological types of tumors develop with germinoma, pineocytoma, and pineoblastoma in that order. On the other hand, pleomorphic xanthoastrocytoma (PXA) is a rare tumor of less than 0.2% and frequently occurs in supratentorial cerebral surface of children and young adults.A case was a 61-year-old man whose pineal tumor was found due to visual disturbance. MRI showed a 23 mm-sized lesion with cysts and inhomogeneous enhancement in the pineal gland. Partial calcification was observed, but there was no non-communicating hydrocephalus, and no increase in HCG-β and AFP with blood sampling. A midline suboccipital craniotomy was performed in the sitting position, a head-up surgery was performed using a 4K / 3D video microscope system (ORBEYE exoscope, Olympus) by the infratentorial supracerebellar approach (ITSCA). The bridging veins and precentral cerebellar vein were dissected to expose the posterior surface of the tumor, and internal decompression was performed. For the complication of air embolism, artificial cerebrospinal fluid was sprayed, and the bilateral internal jugular veins were compressed to confirm the inflow point. There was strong adhesion to the Rt vein of Rosenthal, and the site was removed intracapsularly. Finally, subtotal resection was performed with remaining the upper part of the tumor, a blind lesion behind the Vein of Galen. Vertical gaze palsy occurred after this operation, but it gradually improved over time. Tumor showed pathologically remarkable polymorphism, poor microvascular proliferation and necrosis, but mitotic figures 4–5 / 10HPF, MIB-1 index 10%, GFAP positive, no BRAF V600E mutation. There are few reports of PXA occurring in the pineal gland, and this case is the sixth case. It is also the first report for pineal tumors using ORBEYE through ITSCA in the sitting position.

Pengelolaan Diabetes Insipidus dengan Cerebral Salt Wasting Syndrome dan Tension Pneumocephalus pada Pasien Pascabedah Eksisi Tumor Pineal

Electrolyte imbalance is an often incident in patients underwent neurosurgery and it potentially induces secondary brain injury, leading to a worse outcome, despite successful surgery. Diabetes insipidus is a frequent hypernatremic condition, commonly caused by abnormalities in the hypophysis; but rarely happens due to pineal tumor. A 21-year-old male with preoperative diabetes insipidus experienced episodes of diabetes insipidus complicated by cerebral salt wasting syndrome and tension pneumocephalus after a successful pineal tumor removal surgery. Closed observation on volume status, plasma glucose and electrolyte, along with optimal dose of desmopressin were keys of successful postoperative management in this patient in order to avoid the patient from secondary brain injury. An intensivist plays a key role, mainly in the understanding of intracranial pathophysiology and its implications to fluid and electrolyte balance.

Pineal Apoplexy: A Case Series and Review of the Literature

Background Pineal apoplexy is a rare condition, with unknown incidence and clinical significance. To elucidate this clinical condition, we analyzed our own case series and performed a review of the literature. Methods We enrolled all patients with a hemorrhagic pineal apoplexy who were referred to our department between January 2000 and January 2020. Hemorrhagic pineal apoplexy was defined as the presence of fluid–fluid levels inside the pineal cyst (PC) on an axial or sagittal magnetic resonance scan. In one patient, after PC apoplexy, we performed a circadian melatonin sampling from peripheral blood to determine the function of the pineal gland. The PubMed database was searched for publications using the terms “pineal” and “apoplexy.” Results Eight patients were enrolled, of which three patients underwent surgical treatment and five patients were managed conservatively. One patient was tested for circadian melatonin secretion. Results confirmed melatonin secretion with preserved physiologic circadian rhythm.Our search of the literature led us to 31 studies that comprised 30 patients with apoplectic PC, 9 with apoplectic pineal tumor, and 1 with bleeding into the normal pineal gland. Most patients presented with headache, nausea, and vomiting, less frequently with acute hydrocephalus and gaze palsy. Twenty patients with a PC underwent resection or aspiration. Two patients underwent shunt placement as the only procedure and five received both shunt and surgical removal. Six patients with a PC were observed without surgical treatment. All the nine patients with a pineal tumor were operated on. In indicated cases, four patients received radiation therapy and one received chemotherapy. Conclusion Clinical significance of hemorrhagic pineal apoplexy ranges from an asymptomatic course to rapid deterioration and death. In patients with mild symptoms, observation is indicated, whereas surgical treatment is reserved for severe cases presenting with obstructive hydrocephalus and includes cerebrospinal fluid diversion, resection of apoplectic pineal lesions, or both.

RARE-16. SEVEN CASES OF RETINOBLASTOMA WITH CNS INVOLVEMENTS

Treatment strategy for trilateral retinoblastoma (TRb: very rare RB with brain tumor) or retinoblastoma with central nervous system (CNS) involvement is not established yet. We retrospectively reviewed our seven cases of these rare almost fatal tumors. Their ages at diagnosis are 0y3m-1y10m (median 1y3m) (Male 4, Female 3). Only one had RB family history. Their affected eyes were bilateral 3, unilateral 3 and no 1. Their CNS involvements were suprasellar tumor 4, pineal tumor 1 and cerebrospinal fluid (CSF) cytology positive 2. Three of the suprasellar tumor patients had spinal metastasis. Four of the seven patients were TRb and one were genetically classified suprasellar retinoblastoma. All of them were treated with chemotherapy and four received high-dose chemotherapy. Three brain tumors of four TRb almost disappeared with chemotherapy. Two of them also received radiotherapy but relapsed. Although one radiation-free long-term TRb survivor developed secondary osteosarcoma, he got remission again and live 5 more years. One CSF positive Rb patient with chiasm invasion died of disease 11 months later. The other patient had no chiasm invasion nor CSF involvement at diagnosis, but his CSF cytology turned to positive after his second cycle of chemotherapy. He got remission with radiotherapy and high-dose chemotherapy, and alive without disease for 4 years. 2-year RFS and 2-year OS of all patients were 40% and 60%. Although our TRb patients responded to chemotherapy, it was difficult to avoid radiotherapy except one. Data accumulation is necessary for better treatment of these cancer-predisposed patients.

Orofacial dyskinesia post resection of pineal gland tumor

We reported a case of a 33-year-old lady who was diagnosed with a Pineal tumor and underwent craniotomy and gross total surgical resection of the mass through a right occipital transtentorial approach. Immediately upon extubation, the patient started to have persistent chewing-like movements typical of orofacial dyskinesia that resulted later in buccal mucosal injury and swelling of the lips. The movements spontaneously resolved after 3 days. The patient was not taking any medications that were known to induce such movements. Literature review showed that one of the possible mechanisms could be that the suddenly reduced melatonin level in the acute postoperative period leads to dysregulation of dopamine secretion in the nigrostriatal and limbic system causing these abnormal movements. To the best of our knowledge, this is the first such reported complication of orofacial dyskinesia post craniotomy for resection of the pineal tumor in humans.

GCT-70. INTRACRANIAL GROWING TERATOMA SYNDROME IN CHILDREN

Germ cell tumors account for less than 5% of all intracranial malignancies in children. Intracranial growing teratoma syndrome (GTS) is a rare pathophysiologic process characterized by growth of mature teratoma elements of a non-germinomatous germ cell tumor (NGGCT) during or following treatment with chemotherapy, in addition to normalization of or declining AFP/βHCG of the cerebral spinal fluid (CSF)/serum. A 13-year-old male presented with headache, emesis, and diplopia. MRI of the brain/spine revealed a localized 3.1 x 3.1 x 3.2 cm pineal tumor. Biopsy confirmed NGGCT (germinoma, immature and mature teratoma). Serum AFP (227ng/ul) and βHCG (12 IU/L) and CSF AFP (21ng/ul) and βHCG (31 IU/L) were elevated. Prior to cycle two of chemotherapy, he developed unstable gait and moderate hearing loss. Repeat MRI brain demonstrated tumor enlargement (4.4 x 5.2 x 5.1 cm) and obstructive hydrocephalus, although serum AFP/βHCG had normalized. Gross total resection of tumor confirmed GTS, without residual immature/malignant elements. Following six cycles of multiagent chemotherapy (carboplatin, etoposide, ifosfamide) and proton beam craniospinal irradiation (36 Gy with 18 Gy boost), he remains free of disease at eleven months since diagnosis. The pathogenesis of GTS remains unclear. Care must be taken to avoid misdiagnosing GTS as progressive NGGCT, as treatment and prognosis differ significantly. Second-look surgery, with a goal of complete resection, should be considered in cases of NGGCT when residual tumor grows during or following therapy, as this may represent GTS. Although histologically benign, GTS can be fatal. In patients with GTS, complete resection is usually curative.

ATRT-07. HIGH-DOSE CHEMOTHERAPY AND AUTOLOGOUS STEM CELL TRANSPLANTATION FOR AN ADULT PRESENTATION OF THE ATYPICAL TERATOID-RHABDOID TUMOR (ATRT)

BACKGROUND ATRT is a rare primary CNS tumor occurring predominantly in children with the peak age of onset at less than 3 years old. Adult presentations are exceedingly rare, associated with poor prognosis and no standard therapies exist. METHODS Case presentation. RESULTS 61 y old woman presented with headaches, sinus pressure, and cognitive decline. She was found to have a pineal tumor causing obstructive hydrocephalus. The patient underwent gross total resection of the tumor with pathology reported as ATRT. Her CNS staging, including CSF, was negative. She subsequently received radiotherapy to the resection bed. There was no consensus on what should be the next step in her therapy given lack of data in adults. Ultimately, we adopted a pediatric regimen and treated the patient with a combination of high-dose chemotherapy with cisplatin, cyclophosphamide, and vincristine followed by autologous stem cell transplantation (ASCT). This regimen called for up to 4 cycles of chemotherapy with ASCT and we had collected enough cells to complete 3 cycles. The patient completed 2 cycles of therapy with moderate toxicity. Her CNS imaging remained stable with no evidence of recurrence 14-months from the original diagnosis. CONCLUSIONS ATRT continues to be an exceedingly rare diagnosis in adults. No standard therapies exist and treatment decisions are challenging given lack of data and lack of prospective clinical trials. Pediatric regimens can frequently be adopted for adults although high-dose chemotherapy with ASCT can be challenging. Our case exemplifies the feasibility of treating ATRT in an adult in the most aggressive fashion.

Virtual Reality Surgical Rehearsal and 2-Dimensional Operative Video of a Paramedian Supracerebellar Infratentorial Approach Endoscopic Resection of Pineocytoma: 2-Dimensional Operative Video

An endoscopic “keyhole” approach to a deep-lying skull base lesion can be a daunting challenge. For the pineal region, the techniques for endoscopic resection of solid tumors in this location are also new.1,2 In such a situation, surgical rehearsal in virtual reality (VR) can significantly improve the surgeon's confidence.3 In this operative video, we demonstrate the use of VR in surgical planning and rehearsal to determine the best approach to a large, solid pineal tumor in a 46-yr-old patient. Using the patient's computed tomography angiography and magnetic resonance imaging, a VR model of his anatomy was created (SNAP VR360 version 3.8.0, Surgical Theater Inc, Cleveland, Ohio). VR rehearsal showed that, with the tumor tucked under the corpus callosum and cradled by the internal cerebral veins and veins of Rosenthal, a supratentorial approach would be suboptimal. Because of the steep angle of the patient's tentorium in the midline, a classic supracerebellar infratentorial (SCIT) approach would be challenging, and thus a paramedian variant of SCIT was chosen.4 For a right-handed surgeon, the left side was used, and the endoscope was docked at the extreme left, out of the main surgical corridor. Shown in the video, the endoscopic resection achieved a complete resection. The histopathological diagnosis was a pineocytoma. No adjuvant treatment is recommended. Given the rarity of pineocytoma,5 the novelty of endoscopic resection of solid tumors in the region, and the challenge of “keyhole” approaches to deep-lying targets, VR rehearsal facilitated the achievement of the surgical goal and avoided the morbidity of a more extensive exposure. Patient consent was obtained prior to the creation of the video and available on request. RHOTON images in the video are from The Rhoton Collection®.