Year 2021 / Volume 113 / Number 3
Original
A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family

179-182

DOI: 10.17235/reed.2020.6974/2020

Junfeng Zhou, Chengbo Liang, Duxin Qing, Yongjun Wang, Yuyong Tan, Xiaoliu Shi,

Abstract
Introduction: Gardner syndrome is a hereditary disease characterized by familial adenomatous polyposis (FAP), accompanied by soft tissue tumors. Material and methods: a Chinese FAP family was enrolled and followed-up for three years. Results: a novel large germline fragment deletion (EX10_16DEL) of the adenomatous polyposis coli (APC) gene was identified by multiplex ligation-dependent probe amplification (MLPA). An unexpected abdominal tumor grew two years after a subtotal colectomy of the proband. The immunohistochemistry study of the abdominal tumor showed SMA(focal+), calponin(+), β-catenin(nucleus+) and CD34(focal+), CD117(-), which was consistent with a desmoid tumor. Conclusion: when a FAP related desmoid tumor appears, the possibility of Gardner syndrome should be considered. This is the first largest deletion of the APC gene in the Chinese population associated with Gardner syndrome.
Share Button
New comment
Comments
No comments for this article
References
1. S. Gupta et al., NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019. J Natl Compr Canc Netw 17, 1032-1041 (2019).
2. S. Richards et al., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17, 405-424 (2015).
3. E. J. Gardner, R. C. Richards, Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 5, 139-147 (1953).
4. S. Bulow, Results of national registration of familial adenomatous polyposis. Gut 52, 742-746 (2003).
5. M. L. Arvanitis, D. G. Jagelman, V. W. Fazio, I. C. Lavery, E. McGannon, Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 33, 639-642 (1990).
6. N. J. Sturt, S. K. Clark, Current ideas in desmoid tumours. Fam Cancer 5, 275-285; discussion 287-278 (2006).
7. A. Sinha, P. P. Tekkis, D. C. Gibbons, R. K. Phillips, S. K. Clark, Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis. Colorectal Dis 13, 1222-1229 (2011).
8. L. Koskenvuo et al., Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis. J Surg Oncol 113, 209-212 (2016).
9. F. Neffa et al., Aggressive mutation in a familial adenomatous polyposis syndrome family: when phenotype guides clinical surveillance. J Gastrointest Oncol 9, 553-559 (2018).
10. M. Ponz de Leon et al., An unusual case of familial adenomatous polyposis with very early symptom occurrence. Fam Cancer 13, 375-380 (2014).
11. T. Iwama et al., Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence. Fam Cancer 8, 51-54 (2009).
12. S. B. Middleton et al., Stepwise progression of familial adenomatous polyposis-associated desmoid precursor lesions demonstrated by a novel CT scoring system. Dis Colon Rectum 46, 481-485 (2003).
13. E. J. Groen et al., Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 15, 2439-2450 (2008).
14. P. Hayry, J. J. Reitamo, S. Totterman, D. Hopfner-Hallikainen, A. Sivula, The desmoid tumor. II. Analysis of factors possibly contributing to the etiology and growth behavior. Am J Clin Pathol 77, 674-680 (1982).
15. J. Church et al., Desmoids and genotype in familial adenomatous polyposis. Dis Colon Rectum 58, 444-448 (2015).
16. L. Koskenvuo, A. Ristimaki, A. Lepisto, Comparison of sporadic and FAP-associated desmoid-type fibromatoses. J Surg Oncol 116, 716-721 (2017).
17. S. Zhang et al., Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis. Gene 577, 187-192 (2016).
18. J. Q. Sheng et al., APC gene mutations in Chinese familial adenomatous polyposis patients. World J Gastroenterol 16, 1522-1526 (2010).
19. B. Rubinfeld et al., Association of the APC gene product with beta-catenin. Science 262, 1731-1734 (1993).
20. S. Huss et al., beta-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology 62, 294-304 (2013).
21. W. Friedl, S. Aretz, Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. Hered Cancer Clin Pract 3, 95-114 (2005).
22. M. Nielsen et al., Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. Eur J Hum Genet 15, 1034-1042 (2007).
Related articles
Citation tools
Zhou J, Liang C, Qing D, Wang Y, Tan Y, Shi X, et all. A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family. 6974/2020


Download to a citation manager

Download the citation for this article by clicking on one of the following citation managers:

Metrics
This article has received 780 visits.
This article has been downloaded 143 times.

Statistics from Dimensions


Statistics from Plum Analytics

Publication history

Received: 15/02/2020

Accepted: 29/05/2020

Online First: 20/11/2020

Published: 08/03/2021

Article revision time: 100 days

Article Online First time: 279 days

Article editing time: 387 days


Share
This article has been rated by 1 readers.
Reader rating:
Valora este artículo:




Asociación Española de Ecografía Digestiva Sociedad Española de Endoscopia Digestiva Sociedad Española de Patología Digestiva
The Spanish Journal of Gastroenterology is the official organ of the Sociedad Española de Patología Digestiva, the Sociedad Española de Endoscopia Digestiva and the Asociación Española de Ecografía Digestiva
Cookie policy Privacy Policy Legal Notice © Copyright 2023 y Creative Commons. The Spanish Journal of Gastroenterology