The impact of extent of resection in surgical outcome of pilomyxoid astrocytoma: a case study

The pilomyxoid astrocytoma (PMA) is a rare glioma that has recently been identified as a separate entity and is frequently found in the hypothalamic region. PMA is a subtype of pilocytic astrocytoma (PA), with clinical, histological, and molecular data indicating a close relationship as well as more aggressive biological behaviour in the former. There is still doubt in surgical outcome of PMA that the extent of resection, independent of location or age, is a key factor of recurrence and subsequent therapeutic choices. However, further study is needed to better understand its behaviour and, as a result, establish a consensus on its management. This research features a 2-year-6-month-old female who sought medical attention after complaining of weight loss for four weeks and vomiting for two weeks prior to her visit to the doctor. She had no additional symptoms. Only bilateral pailledema was found during the physical examination. The magnetic resonance imaging (MRI) scans revealed a tumor in the sellar area with heterogeneous enhancement. The patient had ventriculoperitoneal (VP) shunting followed by partial tumor excision twice (Extent of resection 35 percent followed by 16 percent as total 51 percent). The histology and immunohistochemical investigations revealed typical PMA characteristics. Adjuvant treatment, which included chemotherapy and radiosurgery, was initiated for the patient. She has been asymptomatic for two years and has showed no indications of progression of the disease on follow-up scans.

Failure to Thrive Revealing a Pilomyxoid Astrocytoma: An Uncommon Case Report with Literature Review

Pilomyxoid astrocytoma (PMA) is a freshly described figure of low-grade neoplasms encountered in early childhood. Nevertheless, its precise classification by the World Health Organization (WHO) is still debatable. Making an exact diagnosis relies on histological and immunohistochemical pathognomonic features with specific radiological findings. PMA behaves aggressively with a shorter progression-free survival, and its management is unfortunately still arguable. We describe a rare case of PMA involving the suprasellar region who displays symptoms consistent with diencephalic syndrome. The diagnosis was made by magnetic resonance imaging (MRI) focused on the hypothalamic-pituitary axis, and the patient underwent a subtotal tumor resection combined with chemotherapy. Diagnosis of brain tumors should be kept in mind in young children with generalized and severe unexplained loss of subcutaneous fat with failure to thrive after ruling out classical causes.

EPCT-10. DEBIO1347, AN ORAL FGFR INHIBITOR: RESULTS FROM A SINGLE CENTER STUDY IN RECURRENT/REFRACTORY FGFR ALTERED PEDIATRIC GLIOMAS

Background Oncogenic driver alterations in FGFR are present in a subset of pediatric gliomas. Debio1347 is an orally available, highly selective FGFR 1–3 inhibitor that had a favorable safety profile and encouraging preliminary clinical activity in an adult phase 1 study. Methods Five children with progressive/refractory CNS tumors harboring an FGFR gene alteration following prior therapy were treated with Debio1347 at Memorial Sloan Kettering Cancer Center on single patient use protocols. Patients were treated using the 20 mg tablet formulation at the adult recommended phase 2 dose (80 mg/1.73 m2 * BSA once daily). Toxicities were graded using CTCAEv5.0 and imaging response assessments were performed every 8–12 weeks. RESULTS All AEs were grade 1–2. Most common treatment-related adverse events were hyperphosphatemia, ALT increased and hypoalbuminemia (4 patients). Two patients met criteria for partial response and two patients had stable disease. A 13 month-old patient with a spinal cord high-grade glioma harboring two FGFR1 mutations (V592M, K687E) had tumor reduction of 91.7% maintained for 12 months. A 26-month-old patient with a pilomyxoid astrocytoma harboring an FGFR1-TACC1 fusion had a tumor reduction of 74.5% maintained for 9 months. Molecular characterization of recurrent tumor from this patient demonstrated an NF1 deletion as a novel molecular mechanism of acquired resistance to FGFR inhibition. Prolonged disease stabilization was noted in an eight year-old patient with metastatic suprasellar pilomyxoid astrocytoma harboring an FGFR1 mutation (9 months) and in a 14 year-old patient with posterior fossa glioneuronal tumor harboring an FGFR3-TACC3 fusion (24 months and ongoing). Conclusions Debio1347 demonstrated tolerable toxicity and promising anti-tumor efficacy in pediatric patients with refractory FGFR altered gliomas. Specific attention to growth velocity and clinical symptoms with incorporation of imaging assessment of bone growth is warranted. Candidate biomarkers (FGFR1 V592M and K687E SNVs, FGFR-TACC fusions) may guide patient selection. Further studies in this population are warranted.

Case report of Pilomyxoid astrocytoma of the thoracic spinal cord: Literature review with presenting an extremely rare Case of over 70 year’s old patient

Case summary: The MRI of a 73 year old male patient with paraparesis, showed an intramedullary mass at the thoracic spinal cord extending from T6 to T8. Partial surgical removal was preformed and a biopsy was taken, followed by postoperative radiotherapy.

LGG-16. PILOMYXOID ASTROCYTOMA OF THE CERVICAL SPINAL CORD IN A 7-YEAR-OLD ARMENIAN BOY: A CASE REPORT

BACKGROUND Pilomyxoid astrocytoma (PMA) is a glial tumor that occurs predominantly in the hypothalamic-chiasmatic region and rarely in spinal cord. It has similar features as pilocytic astrocytomas, with some distinct histological characteristics and worse prognosis. The 2007 WHO recognized PMA as a Grade II glioma due to its aggressive behavior and dissemination tendency, but according to 2016 version grading of the pilomyxoid variant is under research. Here we report a case with a rare location, aggressive behavior and rapid progression. CASE PRESENTATION: A 7-year-old boy presented with headache, nausea, vomiting. Imaging revealed an intramedullary tumor extending from C2 to C6 with hydrocephalus. A ventriculo-peritoneal shunt and complete surgical resection were performed with significant improvement in the patient’s condition. Histopathological findings were consistent with pilomyxoid variant of pilocytic astrocytoma, with negative BRAF V600E and MGMT. Three months later, the follow-up imaging revealed disease recurrence with leptomeningeal metastases, for which the patient received standard-dose craniospinal irradiation 35.2 Gy with boosts to tumor bed and metastatic sites 49.6 Gy and 54 Gy respectively. 11 months later tumor progression was revealed with new metastatic lesions in the bones. Patient received 6 cycles of chemotherapy with TMZ and Avastin, but continued to suffer disease progression on therapy and he succumbed to his disease at 24 months from diagnosis. CONCLUSION Given the rarity of documented patients with spinal pilomyxoid astrocytoma with rapid progression, as well as the lack of certain WHO classification and treatment guidelines, this case report might be useful for development of more efficient treatment strategies.