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Review
. 2023 Mar 2;21(1):73.
doi: 10.1186/s12957-023-02951-9.

De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review

Miaorong Xu #  1 , Yuyan Zheng #  1 , Zhongchao Zuo  1 , Qin Zhou  1 , Qun Deng  1 , Jianwei Wang  2 , Da Wang  3
Affiliations
Review

De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review

Miaorong Xu et al. World J Surg Oncol. .

Abstract

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.

Keywords: APC; De novo; Familial adenomatous polyposis; Germline mutation; Thyroid cancer.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Pathology section images of the patient’s tumor. A Primary, B, C recurrent thyroid cancer, D cytological examination of the thyroid, E colon cancer, and F breast cancer
See this image and copyright information in PMC

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References

    1. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009;4:22. doi: 10.1186/1750-1172-4-22. - DOI - PMC - PubMed
    1. Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA. Familial adenomatous polyposis syndrome: an update and review of extraintestinal manifestations. Arch Pathol Lab Med. 2019;143:1382–1398. doi: 10.5858/arpa.2018-0570-RA. - DOI - PubMed
    1. Rofes P, Gonzalez S, Navarro M, Moreno-Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gomez C, et al. Paired somatic-germline testing of 15 polyposis and colorectal cancer-predisposing genes highlights the role of APC mosaicism in de novo familial adenomatous polyposis. J Mol Diagn. 2021;23:1452–1459. doi: 10.1016/j.jmoldx.2021.07.024. - DOI - PubMed
    1. Chenbhanich J, Atsawarungruangkit A, Korpaisarn S, Phupitakphol T, Osataphan S, Phowthongkum P. Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis. Fam Cancer. 2019;18:53–62. doi: 10.1007/s10689-018-0085-3. - DOI - PubMed
    1. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006;101:385–398. doi: 10.1111/j.1572-0241.2006.00375.x. - DOI - PubMed