Cargando…
De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review
BACKGROUND: Germline mutations in the APC gene located on chromosome 5q 21–22 can lead to familial adenomatous polyposis (FAP) and the development of colorectal cancer (CRC) if left untreated. As a rare extracolonic manifestation, thyroid cancer is diagnosed in about 2.6% of FAP patients. The genoty...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979514/ https://www.ncbi.nlm.nih.gov/pubmed/36864485 http://dx.doi.org/10.1186/s12957-023-02951-9 |
_version_ | 1784899741909254144 |
---|---|
author | Xu, Miaorong Zheng, Yuyan Zuo, Zhongchao Zhou, Qin Deng, Qun Wang, Jianwei Wang, Da |
author_facet | Xu, Miaorong Zheng, Yuyan Zuo, Zhongchao Zhou, Qin Deng, Qun Wang, Jianwei Wang, Da |
author_sort | Xu, Miaorong |
collection | PubMed |
description | BACKGROUND: Germline mutations in the APC gene located on chromosome 5q 21–22 can lead to familial adenomatous polyposis (FAP) and the development of colorectal cancer (CRC) if left untreated. As a rare extracolonic manifestation, thyroid cancer is diagnosed in about 2.6% of FAP patients. The genotype–phenotype correlation in FAP patients with thyroid cancer remains unclear. CASE PRESENTATION: We present a 20-year-old female of FAP with thyroid cancer as the initial manifestation. The patient was asymptomatic and developed colon cancer liver metastases 2 years after the diagnosis of thyroid cancer. The patient underwent multiple surgical treatments in several organs, and regular colonoscopy with endoscopic polypectomy was performed. Genetic testing demonstrated the c.2929delG (p.Gly977Valfs*3) variant in exon 15 of the APC gene. This represents a previously undescribed APC mutation. This mutation causes loss of multiple structures on the APC gene including the 20-amino acid repeats, the EB1 binding domain, and the HDLG binding site, which may be pathogenic through β-catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation. CONCLUSIONS: We report a de novo FAP case with thyroid cancer presenting atypically aggressive features harboring a novel APC mutation and review APC germline mutations in patients with FAP-associated thyroid cancer. |
format | Online Article Text |
id | pubmed-9979514 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-99795142023-03-03 De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review Xu, Miaorong Zheng, Yuyan Zuo, Zhongchao Zhou, Qin Deng, Qun Wang, Jianwei Wang, Da World J Surg Oncol Case Report BACKGROUND: Germline mutations in the APC gene located on chromosome 5q 21–22 can lead to familial adenomatous polyposis (FAP) and the development of colorectal cancer (CRC) if left untreated. As a rare extracolonic manifestation, thyroid cancer is diagnosed in about 2.6% of FAP patients. The genotype–phenotype correlation in FAP patients with thyroid cancer remains unclear. CASE PRESENTATION: We present a 20-year-old female of FAP with thyroid cancer as the initial manifestation. The patient was asymptomatic and developed colon cancer liver metastases 2 years after the diagnosis of thyroid cancer. The patient underwent multiple surgical treatments in several organs, and regular colonoscopy with endoscopic polypectomy was performed. Genetic testing demonstrated the c.2929delG (p.Gly977Valfs*3) variant in exon 15 of the APC gene. This represents a previously undescribed APC mutation. This mutation causes loss of multiple structures on the APC gene including the 20-amino acid repeats, the EB1 binding domain, and the HDLG binding site, which may be pathogenic through β-catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation. CONCLUSIONS: We report a de novo FAP case with thyroid cancer presenting atypically aggressive features harboring a novel APC mutation and review APC germline mutations in patients with FAP-associated thyroid cancer. BioMed Central 2023-03-02 /pmc/articles/PMC9979514/ /pubmed/36864485 http://dx.doi.org/10.1186/s12957-023-02951-9 Text en © The Author(s) 2023 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 Xu, Miaorong Zheng, Yuyan Zuo, Zhongchao Zhou, Qin Deng, Qun Wang, Jianwei Wang, Da De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review |
title | De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review |
title_full | De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review |
title_fullStr | De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review |
title_full_unstemmed | De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review |
title_short | De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review |
title_sort | de novo familial adenomatous polyposis associated thyroid cancer with a c.2929delg frameshift deletion mutation in apc: a case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979514/ https://www.ncbi.nlm.nih.gov/pubmed/36864485 http://dx.doi.org/10.1186/s12957-023-02951-9 |
work_keys_str_mv | AT xumiaorong denovofamilialadenomatouspolyposisassociatedthyroidcancerwithac2929delgframeshiftdeletionmutationinapcacasereportandliteraturereview AT zhengyuyan denovofamilialadenomatouspolyposisassociatedthyroidcancerwithac2929delgframeshiftdeletionmutationinapcacasereportandliteraturereview AT zuozhongchao denovofamilialadenomatouspolyposisassociatedthyroidcancerwithac2929delgframeshiftdeletionmutationinapcacasereportandliteraturereview AT zhouqin denovofamilialadenomatouspolyposisassociatedthyroidcancerwithac2929delgframeshiftdeletionmutationinapcacasereportandliteraturereview AT dengqun denovofamilialadenomatouspolyposisassociatedthyroidcancerwithac2929delgframeshiftdeletionmutationinapcacasereportandliteraturereview AT wangjianwei denovofamilialadenomatouspolyposisassociatedthyroidcancerwithac2929delgframeshiftdeletionmutationinapcacasereportandliteraturereview AT wangda denovofamilialadenomatouspolyposisassociatedthyroidcancerwithac2929delgframeshiftdeletionmutationinapcacasereportandliteraturereview |