Clinical Importance of CDKN2A Loss and Monosomy 10 in Pilocytic Astrocytoma

Daniel N Cagney; Michael B Miller; Adrian Dubuc; Ivana Delalle; Azra H Ligon; Ugonma Chukwueke; Ossama Al-Mefty; Ayal Aizer; Keith Ligon; Patrick Wen

doi:10.7759/cureus.4726

Clinical Importance of CDKN2A Loss and Monosomy 10 in Pilocytic Astrocytoma

Cureus. 2019 May 23;11(5):e4726. doi: 10.7759/cureus.4726.

Authors

Affiliations

¹ Radiation Oncology, Dana-Farber / Brigham and Women's Cancer Center, Harvard Medical School, Boston, USA.
² Pathology, Dana-Farber / Brigham and Women's Cancer Center, Harvard Medical School, Boston, USA.
³ Neuro-Oncology, Dana-Farber / Brigham and Women's Cancer Center, Harvard Medical School, Boston, USA.
⁴ Neurosurgery, Dana-Farber / Brigham and Women's Cancer Center, Harvard Medical School, Boston, USA.

Abstract

This case of a radiation-naive patient with pilocytic astrocytoma highlights how deletions of CDKN2A (cyclin-dependent kinase Inhibitor 2A) and PTEN (phosphatase and tensin homolog) portended a poor clinical outcome. Pilocytic astrocytomas are grade 1 tumors usually occurring in children and young adults with KIAA1549-BRAF fusion defining the majority of pilocytic astrocytomas. The presence of CDKN2A and PTEN loss may be associated with aggressive biology in pilocytic astrocytoma and further studies should include comprehensive genomics in a larger series of adult pilocytic astrocytoma to evaluate this previously unreported finding. Providers need to be aware of this possibility given the potential for poor outcomes.

Keywords: cdkn2a loss; low grade glioma; malignant transformation; pilocytic astrocytoma; pten loss.

Publication types

Case Reports