Cargando…
A progressive and refractory case of breast cancer with Cowden syndrome
BACKGROUND: Cowden syndrome is a rare autosomal-dominant disease with a high risk of malignant tumors of the breast, commonly caused by germline mutations in the PTEN gene. Most breast cancers related to Cowden syndrome showed typically a slow-growing and favorable clinical course. Here, we report a...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9440557/ https://www.ncbi.nlm.nih.gov/pubmed/36057718 http://dx.doi.org/10.1186/s12957-022-02745-5 |
_version_ | 1784782378057596928 |
---|---|
author | Sueta, Aiko Takeno, Masako Goto-Yamaguchi, Lisa Tomiguchi, Mai Inao, Toko Yamamoto-Ibusuki, Mutsuko Yamamoto, Yutaka |
author_facet | Sueta, Aiko Takeno, Masako Goto-Yamaguchi, Lisa Tomiguchi, Mai Inao, Toko Yamamoto-Ibusuki, Mutsuko Yamamoto, Yutaka |
author_sort | Sueta, Aiko |
collection | PubMed |
description | BACKGROUND: Cowden syndrome is a rare autosomal-dominant disease with a high risk of malignant tumors of the breast, commonly caused by germline mutations in the PTEN gene. Most breast cancers related to Cowden syndrome showed typically a slow-growing and favorable clinical course. Here, we report a progressive case of triple-negative breast cancer in a patient who was diagnosed with Cowden syndrome. CASE PRESENTATION: A 35-year-old female with breast cancer was referred to our hospital. Histopathological examination of the tumor showed that it was triple-negative breast cancer with high proliferation marker. Preoperative positron emission tomography-computed tomography showed abnormal uptake in the left cerebellar hemisphere in addition to the right breast and axillary lymph node. Brain T2-weighted magnetic resonance imaging revealed hyperintense bands in the left cerebellar hemisphere lesion, which demonstrated a “tiger-stripe” appearance. The patient’s mother had died of endometrial cancer. Subsequently, she underwent genetic testing, leading to a diagnosis of Cowden syndrome with a pathogenic variant c.823_840del.18 at exon 8 in PTEN. She was treated with neoadjuvant chemotherapy of eribulin and cyclophosphamide followed by adriamycin and cyclophosphamide. However, her tumors increased after these treatments. She was immediately surgically treated and received adjuvant chemotherapy of capecitabine. Unfortunately, the cancer recurred in the lung nine months after surgery. We then administered paclitaxel and bevacizumab therapy, but the disease rapidly progressed. Consequently, the patient died due to breast cancer about three months after recurrence. CONCLUSION: We report an aggressive case of cancer with Cowden syndrome which was resistant to standard chemotherapy. Alteration of the phosphatidylinositol-3 kinase/Akt/mammalian target of rapamycin pathway due to inactivating PTEN protein may be associated with chemoresistance and serves as a candidate for therapeutic intervention in PTEN-related cancers. |
format | Online Article Text |
id | pubmed-9440557 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-94405572022-09-04 A progressive and refractory case of breast cancer with Cowden syndrome Sueta, Aiko Takeno, Masako Goto-Yamaguchi, Lisa Tomiguchi, Mai Inao, Toko Yamamoto-Ibusuki, Mutsuko Yamamoto, Yutaka World J Surg Oncol Case Report BACKGROUND: Cowden syndrome is a rare autosomal-dominant disease with a high risk of malignant tumors of the breast, commonly caused by germline mutations in the PTEN gene. Most breast cancers related to Cowden syndrome showed typically a slow-growing and favorable clinical course. Here, we report a progressive case of triple-negative breast cancer in a patient who was diagnosed with Cowden syndrome. CASE PRESENTATION: A 35-year-old female with breast cancer was referred to our hospital. Histopathological examination of the tumor showed that it was triple-negative breast cancer with high proliferation marker. Preoperative positron emission tomography-computed tomography showed abnormal uptake in the left cerebellar hemisphere in addition to the right breast and axillary lymph node. Brain T2-weighted magnetic resonance imaging revealed hyperintense bands in the left cerebellar hemisphere lesion, which demonstrated a “tiger-stripe” appearance. The patient’s mother had died of endometrial cancer. Subsequently, she underwent genetic testing, leading to a diagnosis of Cowden syndrome with a pathogenic variant c.823_840del.18 at exon 8 in PTEN. She was treated with neoadjuvant chemotherapy of eribulin and cyclophosphamide followed by adriamycin and cyclophosphamide. However, her tumors increased after these treatments. She was immediately surgically treated and received adjuvant chemotherapy of capecitabine. Unfortunately, the cancer recurred in the lung nine months after surgery. We then administered paclitaxel and bevacizumab therapy, but the disease rapidly progressed. Consequently, the patient died due to breast cancer about three months after recurrence. CONCLUSION: We report an aggressive case of cancer with Cowden syndrome which was resistant to standard chemotherapy. Alteration of the phosphatidylinositol-3 kinase/Akt/mammalian target of rapamycin pathway due to inactivating PTEN protein may be associated with chemoresistance and serves as a candidate for therapeutic intervention in PTEN-related cancers. BioMed Central 2022-09-03 /pmc/articles/PMC9440557/ /pubmed/36057718 http://dx.doi.org/10.1186/s12957-022-02745-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Sueta, Aiko Takeno, Masako Goto-Yamaguchi, Lisa Tomiguchi, Mai Inao, Toko Yamamoto-Ibusuki, Mutsuko Yamamoto, Yutaka A progressive and refractory case of breast cancer with Cowden syndrome |
title | A progressive and refractory case of breast cancer with Cowden syndrome |
title_full | A progressive and refractory case of breast cancer with Cowden syndrome |
title_fullStr | A progressive and refractory case of breast cancer with Cowden syndrome |
title_full_unstemmed | A progressive and refractory case of breast cancer with Cowden syndrome |
title_short | A progressive and refractory case of breast cancer with Cowden syndrome |
title_sort | progressive and refractory case of breast cancer with cowden syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9440557/ https://www.ncbi.nlm.nih.gov/pubmed/36057718 http://dx.doi.org/10.1186/s12957-022-02745-5 |
work_keys_str_mv | AT suetaaiko aprogressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT takenomasako aprogressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT gotoyamaguchilisa aprogressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT tomiguchimai aprogressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT inaotoko aprogressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT yamamotoibusukimutsuko aprogressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT yamamotoyutaka aprogressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT suetaaiko progressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT takenomasako progressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT gotoyamaguchilisa progressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT tomiguchimai progressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT inaotoko progressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT yamamotoibusukimutsuko progressiveandrefractorycaseofbreastcancerwithcowdensyndrome AT yamamotoyutaka progressiveandrefractorycaseofbreastcancerwithcowdensyndrome |