Cargando…

Molecular insights into malignant progression of atypical choroid plexus papilloma

Choroid plexus tumors are rare pediatric neoplasms ranging from low-grade papillomas to overtly malignant carcinomas. They are commonly associated with Li–Fraumeni syndrome and germline TP53 mutations. Choroid plexus carcinomas associated with Li–Fraumeni syndrome are less responsive to chemotherapy...

Descripción completa

Detalles Bibliográficos
Autores principales: Yankelevich, Maxim, Finlay, Jonathan L., Gorsi, Hamza, Kupsky, William, Boue, Daniel R., Koschmann, Carl J., Kumar-Sinha, Chandan, Mody, Rajen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903885/
https://www.ncbi.nlm.nih.gov/pubmed/33608379
http://dx.doi.org/10.1101/mcs.a005272
_version_ 1783654821886164992
author Yankelevich, Maxim
Finlay, Jonathan L.
Gorsi, Hamza
Kupsky, William
Boue, Daniel R.
Koschmann, Carl J.
Kumar-Sinha, Chandan
Mody, Rajen
author_facet Yankelevich, Maxim
Finlay, Jonathan L.
Gorsi, Hamza
Kupsky, William
Boue, Daniel R.
Koschmann, Carl J.
Kumar-Sinha, Chandan
Mody, Rajen
author_sort Yankelevich, Maxim
collection PubMed
description Choroid plexus tumors are rare pediatric neoplasms ranging from low-grade papillomas to overtly malignant carcinomas. They are commonly associated with Li–Fraumeni syndrome and germline TP53 mutations. Choroid plexus carcinomas associated with Li–Fraumeni syndrome are less responsive to chemotherapy, and there is a need to avoid radiation therapy leading to poorer outcomes and survival. Malignant progression from choroid plexus papillomas to carcinomas is exceedingly rare with only a handful of cases reported, and the molecular mechanisms of this progression remain elusive. We report a case of malignant transformation of choroid plexus papilloma to carcinoma in a 7-yr-old male with a germline TP53 mutation in which we present an analysis of molecular changes that might have led to the progression based on the next-generation genetic sequencing of both the original choroid plexus papilloma and the subsequent choroid plexus carcinoma. Chromosomal aneuploidy was significant in both lesions with mostly gains present in the papilloma and additional significant losses in the carcinoma. The chromosomal loss that occurred, in particular loss of Chromosome 13, resulted in the losses of two critical tumor suppressor genes, RB1 and BRCA2, which might play a possible role in the observed malignant transformation.
format Online
Article
Text
id pubmed-7903885
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Cold Spring Harbor Laboratory Press
record_format MEDLINE/PubMed
spelling pubmed-79038852021-03-09 Molecular insights into malignant progression of atypical choroid plexus papilloma Yankelevich, Maxim Finlay, Jonathan L. Gorsi, Hamza Kupsky, William Boue, Daniel R. Koschmann, Carl J. Kumar-Sinha, Chandan Mody, Rajen Cold Spring Harb Mol Case Stud Research Report Choroid plexus tumors are rare pediatric neoplasms ranging from low-grade papillomas to overtly malignant carcinomas. They are commonly associated with Li–Fraumeni syndrome and germline TP53 mutations. Choroid plexus carcinomas associated with Li–Fraumeni syndrome are less responsive to chemotherapy, and there is a need to avoid radiation therapy leading to poorer outcomes and survival. Malignant progression from choroid plexus papillomas to carcinomas is exceedingly rare with only a handful of cases reported, and the molecular mechanisms of this progression remain elusive. We report a case of malignant transformation of choroid plexus papilloma to carcinoma in a 7-yr-old male with a germline TP53 mutation in which we present an analysis of molecular changes that might have led to the progression based on the next-generation genetic sequencing of both the original choroid plexus papilloma and the subsequent choroid plexus carcinoma. Chromosomal aneuploidy was significant in both lesions with mostly gains present in the papilloma and additional significant losses in the carcinoma. The chromosomal loss that occurred, in particular loss of Chromosome 13, resulted in the losses of two critical tumor suppressor genes, RB1 and BRCA2, which might play a possible role in the observed malignant transformation. Cold Spring Harbor Laboratory Press 2021-02 /pmc/articles/PMC7903885/ /pubmed/33608379 http://dx.doi.org/10.1101/mcs.a005272 Text en © 2021 Yankelevich et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Research Report
Yankelevich, Maxim
Finlay, Jonathan L.
Gorsi, Hamza
Kupsky, William
Boue, Daniel R.
Koschmann, Carl J.
Kumar-Sinha, Chandan
Mody, Rajen
Molecular insights into malignant progression of atypical choroid plexus papilloma
title Molecular insights into malignant progression of atypical choroid plexus papilloma
title_full Molecular insights into malignant progression of atypical choroid plexus papilloma
title_fullStr Molecular insights into malignant progression of atypical choroid plexus papilloma
title_full_unstemmed Molecular insights into malignant progression of atypical choroid plexus papilloma
title_short Molecular insights into malignant progression of atypical choroid plexus papilloma
title_sort molecular insights into malignant progression of atypical choroid plexus papilloma
topic Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903885/
https://www.ncbi.nlm.nih.gov/pubmed/33608379
http://dx.doi.org/10.1101/mcs.a005272
work_keys_str_mv AT yankelevichmaxim molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma
AT finlayjonathanl molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma
AT gorsihamza molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma
AT kupskywilliam molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma
AT bouedanielr molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma
AT koschmanncarlj molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma
AT kumarsinhachandan molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma
AT modyrajen molecularinsightsintomalignantprogressionofatypicalchoroidplexuspapilloma