The Association of BRAF Single Nucleotide Polymorphism (rs113488022) with Clinical Characteristics and Postoperative Outcomes of Craniopharyngioma

Sara  Hanaei; Arezou  Rezaei; Maryam  Sadr; Farid Azmoudeh  Ardalan; Seyed Mousa  Sadrehosseini; Nima  Rezaei; Mehdi  Zeinalizadeh

doi:10.18502/igj.v9i2.22045

Sara Hanaei Department of Neurosurgery, Imam Khomeini Hospital Complex (IKHC), Tehran University of Medical Sciences (TUMS), Tehran, Iran
Arezou Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Maryam Sadr Molecular Immunology Research Center, Tehran University of Medical Sciences (TUMS), Tehran, Iran
Farid Azmoudeh Ardalan Department of Pathology, Imam Khomeini Hospital Complex (IKHC), Tehran University of Medical Sciences (TUMS), Tehran, Iran
Seyed Mousa Sadrehosseini Department of Otolaryngology-Head and Neck Surgery, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
Nima Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Mehdi Zeinalizadeh Department of Neurosurgery, Imam Khomeini Hospital Complex (IKHC), Tehran University of Medical Sciences (TUMS), Tehran, Iran

DOI: https://doi.org/10.18502/igj.v9i2.22045

Keywords: BRAF; Craniopharyngioma; Polymorphism; Prognosis; Recurrence; rs113488022; Surgical Outcomes

Abstract

Background: Craniopharyngiomas are benign but locally aggressive sellar tumors with high postoperative mor- bidity. The BRAF V600E mutation is a hallmark of the papillary subtype, yet its prognostic significance remains controversial. Most studies have focused on papillary craniopharyngiomas, while the potential role of BRAF gene variations in clinical outcomes across both subtypes has been underexplored. This study investigated the association of BRAF single nucleotide polymorphism with clinical characteristics and postoperative outcomes in patients with craniopharyngioma.

Methods: The current historical cohort study included 47 patients with histopathologically confirmed craniophar- yngioma who underwent endoscopic endonasal resection. BRAF rs113488022 genotyping (TT, TC, CC) was per- formed on DNA extracted from formalin-fixed paraffin-embedded tumor specimens using real-time PCR. Associa- tions between genotypes and histopathological subtype, tumor volume, calcification, lobulation, extent of resection, postoperative complications, recurrence, and mortality were analyzed.

Results: The patients included 26 males (55.3%) and 21 females (44.7%), with a mean age of 25.06 ± 17.17 years. The most frequent BRAF rs113488022 genotype was 'TC' (76.6%), followed by 'CC' (14.9%) and 'TT' (8.6%). A sig- nificant difference in genotype distribution was observed between adamantinomatous and papillary craniopharyn- giomas (P=0.024), with the 'CC' genotype being more common in the papillary subtype. No significant associations were found between BRAF rs113488022 genotypes and tumor volume (P=0.93), calcification (P=0.61), lobulation (P=0.34), extent of resection (P=0.47), recurrence (P=0.55), mortality (P=0.13), or postoperative complications in- cluding diabetes insipidus, visual changes, and BMI changes (all P>0.05).

Conclusion: While BRAF rs113488022 genotype distribution differs significantly between histopathological sub- types and serves as a valuable diagnostic marker, it does not independently predict postoperative surgical outcomes, recurrence, or mortality in craniopharyngioma patients. Larger prospective studies are needed to further elucidate the prognostic significance of specific BRAF SNPs