Cargando…

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

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 ha...

Descripción completa

Detalles Bibliográficos
Autores principales: Assi, Hazem I., Kakati, Rasha T., Berro, Juliett, Saikali, Ibrahim, Youssef, Bassem, Hourany, Roula, Alameh, Ibrahim, Tabbarah, Abeer, Khoury, Jessica, Darwish, Houssein, Alame, Saada
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025816/
https://www.ncbi.nlm.nih.gov/pubmed/33804593
http://dx.doi.org/10.3390/curroncol28020121
_version_ 1783675561564962816
author Assi, Hazem I.
Kakati, Rasha T.
Berro, Juliett
Saikali, Ibrahim
Youssef, Bassem
Hourany, Roula
Alameh, Ibrahim
Tabbarah, Abeer
Khoury, Jessica
Darwish, Houssein
Alame, Saada
author_facet Assi, Hazem I.
Kakati, Rasha T.
Berro, Juliett
Saikali, Ibrahim
Youssef, Bassem
Hourany, Roula
Alameh, Ibrahim
Tabbarah, Abeer
Khoury, Jessica
Darwish, Houssein
Alame, Saada
author_sort Assi, Hazem I.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8025816
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-80258162021-04-08 PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report Assi, Hazem I. Kakati, Rasha T. Berro, Juliett Saikali, Ibrahim Youssef, Bassem Hourany, Roula Alameh, Ibrahim Tabbarah, Abeer Khoury, Jessica Darwish, Houssein Alame, Saada Curr Oncol Case Report 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. MDPI 2021-03-20 /pmc/articles/PMC8025816/ /pubmed/33804593 http://dx.doi.org/10.3390/curroncol28020121 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Case Report
Assi, Hazem I.
Kakati, Rasha T.
Berro, Juliett
Saikali, Ibrahim
Youssef, Bassem
Hourany, Roula
Alameh, Ibrahim
Tabbarah, Abeer
Khoury, Jessica
Darwish, Houssein
Alame, Saada
PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report
title PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report
title_full PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report
title_fullStr PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report
title_full_unstemmed PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report
title_short PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report
title_sort pten r130q papillary tumor of the pineal region (ptpr) with chromosome 10 loss successfully treated with everolimus: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025816/
https://www.ncbi.nlm.nih.gov/pubmed/33804593
http://dx.doi.org/10.3390/curroncol28020121
work_keys_str_mv AT assihazemi ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT kakatirashat ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT berrojuliett ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT saikaliibrahim ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT youssefbassem ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT houranyroula ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT alamehibrahim ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT tabbarahabeer ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT khouryjessica ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT darwishhoussein ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport
AT alamesaada ptenr130qpapillarytumorofthepinealregionptprwithchromosome10losssuccessfullytreatedwitheverolimusacasereport