PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report

Hazem I Assi; Rasha T Kakati; Juliett Berro; Ibrahim Saikali; Bassem Youssef; Roula Hourany; Ibrahim Alameh; Abeer Tabbarah; Jessica Khoury; Houssein Darwish; Saada Alame

doi:10.3390/curroncol28020121

PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report

Curr Oncol. 2021 Mar 20;28(2):1274-1279. doi: 10.3390/curroncol28020121.

Authors

Affiliations

¹ Division of Hematology & Oncology, Naef K. Basile Cancer Institute, American University of Beirut Medical Center, Cairo Street, Beirut P.O. Box 11-0236, Lebanon.
² Faculty of Medicine, American University of Beirut, Bliss Street, Beirut P.O. Box 11-0236, Lebanon.
³ Division of Neurosurgery, Lebanese American University Medical Center, Beirut P.O. Box 11-3288, Lebanon.
⁴ Division of Radiation Oncology, American University of Beirut Medical Center, Cairo Street, Beirut P.O. Box 11-0236, Lebanon.
⁵ Division of Diagnostic Radiology, American University of Beirut Medical Center, Bliss Street, Beirut P.O. Box 11-0236, Lebanon.
⁶ Department of Internal Medicine, American University of Beirut Medical Center, Cairo Street, Beirut P.O. Box 11-0236, Lebanon.
⁷ Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Cairo Street, Beirut P.O. Box 11-0236, Lebanon.
⁸ Division of Neurosurgery, American University of Beirut Medical Center, Cairo Street, Beirut P.O. Box 11-0236, Lebanon.
⁹ Department of Pediatric Neurology, Faculty of Medicine, Lebanese University, Beirut P.O. Box 6573/14, Lebanon.

Abstract

Papillary tumors of the pineal region (PTPR) can be observed among adults with poor prognosis and high recurrence rates. Standards of therapy involve total surgical excision along with radiation therapy, with no promising prospects for primary adjuvant chemotherapy, as long-term treatment options have not been explored. Chromosome 10 loss is characteristic of PTPR, and PTEN gene alterations are frequently encountered in a wide range of human cancers and may be treated with mTORC1 inhibitors such as everolimus. In parallel, there are no reports of treating PTPR with everolimus alone as a monopharmacotherapy. We report the case of a patient diagnosed with PTPR (grade III) characterized by a PTEN R130Q alteration with chromosome 10 loss that was treated with everolimus pharmacotherapy alone, resulting in an asymptomatic course and tumor regression, a rare yet notable phenomenon not described in the literature so far with potential to alter the management approach to patients with PTPR.

Keywords: PTEN; case report; everolimus; papillary tumors of the pineal region; pineal parenchymal tumor.

Publication types

Case Reports

MeSH terms

Adult
Brain Neoplasms*
Chromosomes, Human, Pair 10
Everolimus / therapeutic use
Humans
Neoplasm Recurrence, Local
PTEN Phosphohydrolase / genetics
Pineal Gland*
Pinealoma*

Substances

Everolimus
PTEN Phosphohydrolase
PTEN protein, human