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Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome
Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden syndrome (CS), are susceptible to multiple benign hamartomas and an increased risk of cancer, particularly breast, endometrial, and thyroid. As a result, individuals undergo enhanced surveillance for early detection of these ca...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525494/ https://www.ncbi.nlm.nih.gov/pubmed/33083010 http://dx.doi.org/10.1038/s41525-020-00148-7 |
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author | Kim, Raymond H. Wang, Xiangling Evans, Andrew J. Campbell, Steven C. Nguyen, Jane K. Farncombe, Kirsten M. Eng, Charis |
author_facet | Kim, Raymond H. Wang, Xiangling Evans, Andrew J. Campbell, Steven C. Nguyen, Jane K. Farncombe, Kirsten M. Eng, Charis |
author_sort | Kim, Raymond H. |
collection | PubMed |
description | Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden syndrome (CS), are susceptible to multiple benign hamartomas and an increased risk of cancer, particularly breast, endometrial, and thyroid. As a result, individuals undergo enhanced surveillance for early detection of these cancers. However, less commonly occurring cancers, such as colorectal and kidney, have insufficient guidelines for early detection. Currently, screening for kidney cancer via renal ultrasound begins at 40 years of age, because there were only rare cases of elevated risk in prospective series under 40. There have, however, been accumulating reports of kidney cancer in individuals with CS in their 30s, illustrating a need to lower the age of surveillance. We present additional evidence of renal cell carcinoma in two individuals with CS in their early twenties, and propose a reassessment of the abdominal surveillance in patients with PHTS. We propose biannual screening for kidney cancer beginning at 20 years of age. |
format | Online Article Text |
id | pubmed-7525494 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-75254942020-10-19 Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome Kim, Raymond H. Wang, Xiangling Evans, Andrew J. Campbell, Steven C. Nguyen, Jane K. Farncombe, Kirsten M. Eng, Charis NPJ Genom Med Case Report Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden syndrome (CS), are susceptible to multiple benign hamartomas and an increased risk of cancer, particularly breast, endometrial, and thyroid. As a result, individuals undergo enhanced surveillance for early detection of these cancers. However, less commonly occurring cancers, such as colorectal and kidney, have insufficient guidelines for early detection. Currently, screening for kidney cancer via renal ultrasound begins at 40 years of age, because there were only rare cases of elevated risk in prospective series under 40. There have, however, been accumulating reports of kidney cancer in individuals with CS in their 30s, illustrating a need to lower the age of surveillance. We present additional evidence of renal cell carcinoma in two individuals with CS in their early twenties, and propose a reassessment of the abdominal surveillance in patients with PHTS. We propose biannual screening for kidney cancer beginning at 20 years of age. Nature Publishing Group UK 2020-09-29 /pmc/articles/PMC7525494/ /pubmed/33083010 http://dx.doi.org/10.1038/s41525-020-00148-7 Text en © The Author(s) 2020 https://creativecommons.org/licenses/by/4.0/Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Case Report Kim, Raymond H. Wang, Xiangling Evans, Andrew J. Campbell, Steven C. Nguyen, Jane K. Farncombe, Kirsten M. Eng, Charis Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome |
title | Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome |
title_full | Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome |
title_fullStr | Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome |
title_full_unstemmed | Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome |
title_short | Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome |
title_sort | early-onset renal cell carcinoma in pten harmatoma tumour syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525494/ https://www.ncbi.nlm.nih.gov/pubmed/33083010 http://dx.doi.org/10.1038/s41525-020-00148-7 |
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