Pituitary & hypothalamus

The role of BRAF testing of Rathke’s cleft cysts to identify missed papillary craniopharyngioma

PituitaryPublished Retrospective cohort study

Authors' conclusion

This study highlights the potential value of BRAF testing in RCCs to identify missed pCP, which is an especially timely finding given the advent of primary medical therapy with BRAF inhibition for pCP. In the absence of guidelines advising on the use of BRAF studies in sellar lesions, we suggest consideration of BRAF testing of all RCCs, particularly if there is squamous metaplasia or disease recurrence.

Study context

Population
Patients with Rathke's cleft cysts (Rathke's cleft cyst (RCC)) operated on at Flinders Medical Centre, the Memorial and Royal Adelaide Hospitals, 2001–2023
Participants
11 suitable operative specimens
Outcome
Revision of RCC diagnosis to papillary craniopharyngioma (pCP) after BRAF testing (BRAF V600E IHC and NGS)
Methodological detailsmulticentre, BRAF V600E immunohistochemistry (IHC) and BRAF next generation sequencing (NGS) of extracted tumour DNA performed in cases with sufficient tissue
  • Multicentre
  • BRAF V600E IHC and BRAF NGS of extracted tumour DNA performed in cases with sufficient tissue

Main finding

As reported in the abstract

Initial RCC diagnosis revised to papillary craniopharyngioma (pCP): equivocal positivity on BRAF IHC, clear identification of V600E variant on NGS

1 of 11 patients

Observational data: associations, not effects.

Original publication

The role of BRAF testing of Rathke’s cleft cysts to identify missed papillary craniopharyngioma. Pituitary. Published 3 February 2025. doi:10.1007/s11102-025-01501-8

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