Cargando…

Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data

BACKGROUND: Papillary renal cell carcinoma type 2 (PRCC2) is refractory to systemic treatment and has a dismal prognosis. Previous studies showed that genetic alterations in PRCC2 were heterogeneous regardless of germline or somatic mutations. In this study, we aimed to perform precision treatment o...

Descripción completa

Detalles Bibliográficos
Autores principales: Kim, Ji-Yeon, Jeong, Hyoung-Oh, Heo, Dae Seog, Keam, Bhumsuk, Moon, Kyung Chul, Kwak, Cheol, Jang, Jinho, Kim, Seunghoon, Kim, Jong-Il, Lee, Semin, Lee, Se-Hoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7723617/
https://www.ncbi.nlm.nih.gov/pubmed/33313134
http://dx.doi.org/10.21037/atm-20-3466
_version_ 1783620378698973184
author Kim, Ji-Yeon
Jeong, Hyoung-Oh
Heo, Dae Seog
Keam, Bhumsuk
Moon, Kyung Chul
Kwak, Cheol
Jang, Jinho
Kim, Seunghoon
Kim, Jong-Il
Lee, Semin
Lee, Se-Hoon
author_facet Kim, Ji-Yeon
Jeong, Hyoung-Oh
Heo, Dae Seog
Keam, Bhumsuk
Moon, Kyung Chul
Kwak, Cheol
Jang, Jinho
Kim, Seunghoon
Kim, Jong-Il
Lee, Semin
Lee, Se-Hoon
author_sort Kim, Ji-Yeon
collection PubMed
description BACKGROUND: Papillary renal cell carcinoma type 2 (PRCC2) is refractory to systemic treatment and has a dismal prognosis. Previous studies showed that genetic alterations in PRCC2 were heterogeneous regardless of germline or somatic mutations. In this study, we aimed to perform precision treatment of PRCC2 based on genetic information. METHODS: We performed exome and genome sequencing of tumor tissues and matched normal samples. Based on sequencing data, we treated patients with metastatic PRCC2 using precision oncology. RESULTS: Four patients underwent curative surgery of PRCC2 and three patients had metastatic PRCC2. All PRCC2 heterogeneously harbored own driver mutations. Two out of the three patients with metastatic disease had fumarate hydratase (FH) germline mutations. One patient with a germline FH mutation was diagnosed with hereditary leiomyomatosis RCC. He was treated with bevacizumab and erlotinib combination and showed a durable response. The other metastatic PRCC2 patient harboring a germline FH mutation had an additional somatic FH mutation and was durably controlled with pazopanib. Other metastatic PRCC2 patient with somatic PBRM1 and SETD2 mutations had over 5 years of overall survival with axitinib treatment. CONCLUSIONS: We performed precision systemic treatment based on genetic information. Genome sequencing could help identify candidates for targeted therapy in PRCC2, a genetically heterogeneous disease.
format Online
Article
Text
id pubmed-7723617
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher AME Publishing Company
record_format MEDLINE/PubMed
spelling pubmed-77236172020-12-10 Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data Kim, Ji-Yeon Jeong, Hyoung-Oh Heo, Dae Seog Keam, Bhumsuk Moon, Kyung Chul Kwak, Cheol Jang, Jinho Kim, Seunghoon Kim, Jong-Il Lee, Semin Lee, Se-Hoon Ann Transl Med Original Article BACKGROUND: Papillary renal cell carcinoma type 2 (PRCC2) is refractory to systemic treatment and has a dismal prognosis. Previous studies showed that genetic alterations in PRCC2 were heterogeneous regardless of germline or somatic mutations. In this study, we aimed to perform precision treatment of PRCC2 based on genetic information. METHODS: We performed exome and genome sequencing of tumor tissues and matched normal samples. Based on sequencing data, we treated patients with metastatic PRCC2 using precision oncology. RESULTS: Four patients underwent curative surgery of PRCC2 and three patients had metastatic PRCC2. All PRCC2 heterogeneously harbored own driver mutations. Two out of the three patients with metastatic disease had fumarate hydratase (FH) germline mutations. One patient with a germline FH mutation was diagnosed with hereditary leiomyomatosis RCC. He was treated with bevacizumab and erlotinib combination and showed a durable response. The other metastatic PRCC2 patient harboring a germline FH mutation had an additional somatic FH mutation and was durably controlled with pazopanib. Other metastatic PRCC2 patient with somatic PBRM1 and SETD2 mutations had over 5 years of overall survival with axitinib treatment. CONCLUSIONS: We performed precision systemic treatment based on genetic information. Genome sequencing could help identify candidates for targeted therapy in PRCC2, a genetically heterogeneous disease. AME Publishing Company 2020-11 /pmc/articles/PMC7723617/ /pubmed/33313134 http://dx.doi.org/10.21037/atm-20-3466 Text en 2020 Annals of Translational Medicine. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Original Article
Kim, Ji-Yeon
Jeong, Hyoung-Oh
Heo, Dae Seog
Keam, Bhumsuk
Moon, Kyung Chul
Kwak, Cheol
Jang, Jinho
Kim, Seunghoon
Kim, Jong-Il
Lee, Semin
Lee, Se-Hoon
Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data
title Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data
title_full Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data
title_fullStr Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data
title_full_unstemmed Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data
title_short Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data
title_sort treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7723617/
https://www.ncbi.nlm.nih.gov/pubmed/33313134
http://dx.doi.org/10.21037/atm-20-3466
work_keys_str_mv AT kimjiyeon treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT jeonghyoungoh treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT heodaeseog treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT keambhumsuk treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT moonkyungchul treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT kwakcheol treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT jangjinho treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT kimseunghoon treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT kimjongil treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT leesemin treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata
AT leesehoon treatmentstrategyforpapillaryrenalcellcarcinomatype2acaseseriesofsevenpatientstreatedbasedonnextgenerationsequencingdata