A Clinical Rule for Preoperative Prediction of BRAF Mutation Status in Craniopharyngiomas

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Shingo Fujio - , Harvard Medical School (HMS) (Autor:in)
  • Tareq A Juratli - , Harvard Medical School (HMS), Massachusetts General Hospital (Autor:in)
  • Kazunori Arita - , Kagoshima University (Autor:in)
  • Hirofumi Hirano - , Kagoshima University (Autor:in)
  • Yushi Nagano - , Kagoshima University (Autor:in)
  • Tomoko Takajo - , Kagoshima University (Autor:in)
  • Koji Yoshimoto - , Kagoshima University (Autor:in)
  • Ivanna V Bihun - , Harvard Medical School (HMS) (Autor:in)
  • Alexander B Kaplan - , Harvard Medical School (HMS) (Autor:in)
  • Naema Nayyar - , Harvard Medical School (HMS) (Autor:in)
  • Alexandria L Fink - , Harvard Medical School (HMS) (Autor:in)
  • Mia S Bertalan - , Harvard Medical School (HMS) (Autor:in)
  • Shilpa S Tummala - , Harvard Medical School (HMS) (Autor:in)
  • William T Curry - , Harvard Medical School (HMS) (Autor:in)
  • Pamela S Jones - , Harvard Medical School (HMS) (Autor:in)
  • Maria Martinez-Lage - , Harvard Medical School (HMS) (Autor:in)
  • Daniel P Cahill - , Harvard Medical School (HMS) (Autor:in)
  • Fred G Barker - , Harvard Medical School (HMS) (Autor:in)
  • Priscilla K Brastianos - , Harvard Medical School (HMS) (Autor:in)

Abstract

BACKGROUND: Papillary craniopharyngiomas are characterized by BRAFV600E mutations. Targeted therapy can elicit a dramatic radiographic regression of these tumors. Therefore, prediction of BRAF mutation status before definitive surgery could enable neoadjuvant treatment strategies.

OBJECTIVE: To establish preoperative prediction criteria to identify patients with a BRAF mutant craniopharyngioma.

METHODS: Sixty-four patients with craniopharyngioma were included in this study. We determined BRAF mutation status by targeted sequencing. After scoring interobserver variability between presurgical clinical data and radiographic features, we established a diagnostic rule for BRAF mutation in our discovery cohort. We then validated the rule in an independent cohort.

RESULTS: The BRAFV600E mutation was detected in 12 of 42 patients in the discovery cohort. There were no patients under age 18 with BRAF mutation. Calcification was rare in tumors with BRAF mutation (P < .001), and 92% of them were supradiaphragmatic in location. Combining these 3 features-older than 18 years, absence of calcification, and supradiaphragmatic tumor location-we established a rule for predicting BRAF mutation. In cases where all 3 criteria were fulfilled, the sensitivity and specificity for the presence of BRAF mutation were 83% and 93%, respectively. In the validation cohort (n = 22), the sensitivity was 100% and specificity was 89%.

CONCLUSION: We propose predictive criteria for a BRAF mutation in craniopharyngioma using preoperative clinical and radiographic data. This rule may be useful in identifying patients who could potentially benefit from neoadjuvant BRAFV600E-targeted systemic therapies.

Details

OriginalspracheEnglisch
Seiten (von - bis)204-210
Seitenumfang7
FachzeitschriftNeurosurgery
Jahrgang85
Ausgabenummer2
PublikationsstatusVeröffentlicht - 1 Aug. 2019
Peer-Review-StatusJa
Extern publiziertJa

Externe IDs

Scopus 85069828768

Schlagworte

Schlagwörter

  • Adolescent, Adult, Aged, Craniopharyngioma/genetics, Female, Humans, Male, Middle Aged, Molecular Targeted Therapy/methods, Mutation, Neoadjuvant Therapy/methods, Patient Selection, Pituitary Neoplasms/genetics, Proto-Oncogene Proteins B-raf/genetics, Sensitivity and Specificity