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A Rare Case of Giant Congenital/Infant-type Hemispheric Glioma Harboring Concomitant ALK and EGFR Alteration
Derya Karatas1, Saygi Uygur1, Irmak Tekeli Barut1
1Department of Neurosurgery, Faculty of Medicine, Mersin University, Mersin, Türkiye.
Insights
A rare infant-type hemispheric glioma case in fraternal twins showed distinct molecular features, including a novel gene fusion. Despite aggressive tumor markers, the patient achieved long-term survival without standard treatments.
Area of Science:
- Pediatric neuro-oncology
- Molecular genetics
- Cancer biology
Background:
- Infant-type hemispheric glioma (IHG) is a distinct high-grade glioma subtype in young children.
- IHG exhibits unique molecular profiles and survival outcomes compared to adult and older pediatric gliomas.
Observation:
- A fraternal twin case of giant IHG diagnosed at 2 months, treated with gross total resection.
- Tumor exhibited a high Ki-67 proliferative index (70%) but achieved 4-year survival.
Findings:
- First reported IHG case with concurrent echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase (EM4-ALK) gene fusion and EGFR A269V mutation.
- This rare twin case demonstrated long recurrence-free survival without radiation or targeted therapy.
Implications:
- Highlights the importance of molecular profiling in IHG for understanding distinct prognoses.
- Suggests potential for novel therapeutic targets and treatment strategies in IHG.
- Emphasizes the need for continued monitoring of neurocognitive development in survivors.
Abstract:
Infant-type hemispheric glioma is a subtype of pediatric high-grade glioma that is seen among those under the age of 3-5 years and congenital infant-type hemispheric gliomas are another subtype which is seen among those under 6 months of age. The molecular features and overall survival of infant-type hemispheric gliomas are distinct from those of pediatric and adult high-grade gliomas. The present study reports a fraternal twin case of a giant hemispheric infant-type hemispheric glioma diagnosed at the age of 2 months and treated with gross total resection. Even though the Ki-67 proliferative index of the tumor was 70%, she has been surviving for 4 years. After molecular analysis, the first case of infant-type hemispheric glioma that had concurrent echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase gene fusion and an A269V point mutation on exon 7 in epidermal growth factor receptor gene was identified. Among echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase gene fusion cases, the present study presents a rare twin case of giant infant-type hemispheric glioma that has a long recurrence-free survival without radiation or targeted therapy. In contrast, the neurocognitive test results of this case at the age of 4 years corresponded to 12-15 months of age.
