Two Rare Cases of Desmoplastic Infantile Ganglioglioma with Early Recurrence, One with BRAF V600E Mutation: A Case-Based Review
Journal of Pediatric Neurosciences, cilt.20, sa.1, ss.3-10, 2025 (ESCI, Scopus)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 20 Sayı: 1
- Basım Tarihi: 2025
- Doi Numarası: 10.4103/jpn.jpn_89_24
- Dergi Adı: Journal of Pediatric Neurosciences
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE
- Sayfa Sayıları: ss.3-10
- Anahtar Kelimeler: <italic>BRAF</italic>, <italic>DIG</italic>, <italic>infantile brain neoplasms</italic>, <italic>malign transformation</italic>, <italic>recurrence</italic>
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Purpose: Desmoplastic infantile gangliogliomas are benign intracranial tumors and most commonly occur in the first 2 years of life. Radiologically, it is seen as an intensely enhancing solid mass with a cystic component in the supratentorial region. Gross total resection (GTR) is sufficient in treatment. However, it may rarely show aggressive behavior and require complementary treatments. We aimed to discuss two rare cases of recurrent diffuse infantile ganglioglioma and the effect of BRAF mutation on prognosis in light of the literature. Materials and Methods: Two cases of desmoplastic infantile ganglioglioma with early recurrence were compared with other cases in the literature with recurrence, malign transformation, or metastasis according to the presence or absence of BRAF mutations. Results: A total of 18 cases with recurrence or malignant transformation have been reported in the literature with our cases, and BRAF mutation was found in three of them: one of which is V600A, and two of them are V600E type. BRAF V600E mutation was detected in our first case, and no BRAF mutation was detected in the second case. Second recurrence or malignancy was not seen in only four of 15 cases without BRAF mutation. However, it was not seen in any of the three cases with BRAF mutation. Conclusion: Desmoplastic infantile ganglioglioma is classified as a WHO grade 1 tumor. GTR is the primary treatment method. Recurrence, progression, or malignant transformation may be rarely seen, especially in cases with subtotal resection. In these cases, reoperation, chemotherapy, and radiotherapy may be required. Besides, targeted therapies can be developed in cases with BRAF mutation. Recurrent patients with BRAF mutations may have a better prognosis.