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RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report

Personalized medicine using molecular-targeted drugs to achieve better therapeutic response and long-term prognosis is common practice for lung cancer treatment. However, in cases before gene batch tests were available, medical treatment continued without the detection of rare mutations. We report a...

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Autores principales: Morikawa, Kei, Handa, Hiroshi, Ueno, Junko, Tsuruoka, Hajime, Inoue, Takeo, Shimada, Naoki, Koike, Junki, Nakamura, Seiji, Sato, Yoshiharu, Mineshita, Masamichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702555/
https://www.ncbi.nlm.nih.gov/pubmed/36452495
http://dx.doi.org/10.3389/fonc.2022.1019932
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author Morikawa, Kei
Handa, Hiroshi
Ueno, Junko
Tsuruoka, Hajime
Inoue, Takeo
Shimada, Naoki
Koike, Junki
Nakamura, Seiji
Sato, Yoshiharu
Mineshita, Masamichi
author_facet Morikawa, Kei
Handa, Hiroshi
Ueno, Junko
Tsuruoka, Hajime
Inoue, Takeo
Shimada, Naoki
Koike, Junki
Nakamura, Seiji
Sato, Yoshiharu
Mineshita, Masamichi
author_sort Morikawa, Kei
collection PubMed
description Personalized medicine using molecular-targeted drugs to achieve better therapeutic response and long-term prognosis is common practice for lung cancer treatment. However, in cases before gene batch tests were available, medical treatment continued without the detection of rare mutations. We report a sixty-seven-old year man diagnosed with adenocarcinoma T1cN3M1a, stage IVA. Initial screening performed 7 years earlier using EGFR mutation and ALK immunohistochemical tests were negative. Although first-line cytotoxic combination chemotherapy was remarkably effective, a gradual regression of the primary lesion was noted. After a recent bronchoscopic re-biopsy, RET fusion was detected by gene panel test. In addition, we were able to confirm RET from FFPE specimens obtained from 7-year-old pleural effusion cell blocks. Subsequent administration of the molecular-targeted drug selpercatinib, was highly effective for the primary lesion and all metastatic lesions including brain metastases. We describe a case of RET fusion-positive lung cancer where molecular targeted therapy and cytotoxic drug showed a drastic response and long-term therapy was well maintained. Next generation sequencing was able to correctly diagnose RET fusion mutation using re-biopsy specimen after going undiagnosed for 7 years.
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spelling pubmed-97025552022-11-29 RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report Morikawa, Kei Handa, Hiroshi Ueno, Junko Tsuruoka, Hajime Inoue, Takeo Shimada, Naoki Koike, Junki Nakamura, Seiji Sato, Yoshiharu Mineshita, Masamichi Front Oncol Oncology Personalized medicine using molecular-targeted drugs to achieve better therapeutic response and long-term prognosis is common practice for lung cancer treatment. However, in cases before gene batch tests were available, medical treatment continued without the detection of rare mutations. We report a sixty-seven-old year man diagnosed with adenocarcinoma T1cN3M1a, stage IVA. Initial screening performed 7 years earlier using EGFR mutation and ALK immunohistochemical tests were negative. Although first-line cytotoxic combination chemotherapy was remarkably effective, a gradual regression of the primary lesion was noted. After a recent bronchoscopic re-biopsy, RET fusion was detected by gene panel test. In addition, we were able to confirm RET from FFPE specimens obtained from 7-year-old pleural effusion cell blocks. Subsequent administration of the molecular-targeted drug selpercatinib, was highly effective for the primary lesion and all metastatic lesions including brain metastases. We describe a case of RET fusion-positive lung cancer where molecular targeted therapy and cytotoxic drug showed a drastic response and long-term therapy was well maintained. Next generation sequencing was able to correctly diagnose RET fusion mutation using re-biopsy specimen after going undiagnosed for 7 years. Frontiers Media S.A. 2022-11-14 /pmc/articles/PMC9702555/ /pubmed/36452495 http://dx.doi.org/10.3389/fonc.2022.1019932 Text en Copyright © 2022 Morikawa, Handa, Ueno, Tsuruoka, Inoue, Shimada, Koike, Nakamura, Sato and Mineshita https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Morikawa, Kei
Handa, Hiroshi
Ueno, Junko
Tsuruoka, Hajime
Inoue, Takeo
Shimada, Naoki
Koike, Junki
Nakamura, Seiji
Sato, Yoshiharu
Mineshita, Masamichi
RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report
title RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report
title_full RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report
title_fullStr RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report
title_full_unstemmed RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report
title_short RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report
title_sort ret fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: a case report
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702555/
https://www.ncbi.nlm.nih.gov/pubmed/36452495
http://dx.doi.org/10.3389/fonc.2022.1019932
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