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Child's Nervous System

, Volume 35, Issue 9, pp 1525–1536 | Cite as

Pilocytic astrocytomas: BRAFV600E and BRAF fusion expression patterns in pediatric and adult age groups

  • Hetakshi Kurani
  • Mamta Gurav
  • Omshree Shetty
  • Girish Chinnaswamy
  • Aliasagar Moiyadi
  • Tejpal Gupta
  • Rakesh Jalali
  • Sridhar EpariEmail author
Original Article

Abstract

Purpose

Pilocytic astrocytomas (PCAs) are characterized by two dominant molecular alterations of the BRAF gene, i.e., BRAFV600E mutation and KIAA1549-BRAF fusions which show a differential pattern of frequency across different age-groups.

Methods

Formalin-fixed paraffin-embedded tissues of 358 (pediatric 276 and adult 82) consecutive PCAs were evaluated for BRAFV600E mutation by Sanger sequencing and KIAA1549:BRAF fusion transcripts (KIAA1549:BRAF 16-9, KIAA1549:BRAF 15-9, and KIAA1549:BRAF 16-11) by reverse transcriptase polymerase chain reaction, which were correlated with different clinicopathological features.

Results

BRAFV600E mutation was detected in 8.9% pediatric and 9.75% adult PCAs, whereas 41.1% and 25.7% of pediatric and adult cases showed KIAA1549-BRAF fusions respectively. BRAFV600E did not show any statistically significant correlation with any of the clinical parameters (age, location, and gender). KIAA1549:BRAF fusions showed a significant statistical association with the pediatric age group and cerebellar location. KIAA1549-BRAF 16-9 was the commonest variant and was predominantly associated with cerebellar location than non-cerebellar whereas fusion variant 15-9 negatively correlated with cerebellar locations.

Conclusions

The present study showed overall frequency of 53.5% and 37.3% BRAF alterations in pediatric and adult PCA cases respectively. BRAF fusion in PCA cases showed a different distribution pattern across age groups and locations; while no such differential pattern was observed for BRAFV600E.

Keywords

BRAFV600E KIAA1549-BRAF fusion Sanger sequencing RT-PCR 

Notes

Acknowledgments

The authors wish to acknowledge Mrs. Prachi Gogte, Mr.Vinayak Kadam, Mr. Sandeep Dhanavade, and Mrs.Dipika Dhanavade for their technical assistance.

Funding information

This study was financially supported by the Terry Fox Foundation.

Compliance with ethical standards

Conflict of interest

The authors declare no conflicts of interests in the study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Molecular Pathology, Department of Pathology, Tata Memorial CentreHomi Baba National InstituteMumbaiIndia
  2. 2.Department of Pediatric Oncology, Tata Memorial CentreHomi Baba National InstituteMumbaiIndia
  3. 3.Division of Neurosurgery, Department of Surgical Oncology, Tata Memorial Hospital and ACTREC, Tata Memorial CentreHomi Baba National InstituteMumbaiIndia
  4. 4.Department of Radiation Oncology, Tata Memorial Hospital and ACTREC, Tata Memorial CentreHomi Baba National InstituteMumbaiIndia
  5. 5.Department of Pathology (& Division of Molecular Pathology), Tata Memorial Hospital and ACTREC, Tata Memorial CentreHomi Baba National InstituteMumbaiIndia

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