Usefulness of genotyping APC gene for individualizing management of patients with familial adenomatous polyposis.

Male Humans Female Middle Aged Genes, APC Genotype Prospective Studies Retrospective Studies Adenomatous Polyposis Coli / genetics
Adenomatous polyposis coli gene Colorectal cancer Familial adenomatous polyposis Genotype

Journal

International journal of clinical oncology
ISSN: 1437-7772
Titre abrégé: Int J Clin Oncol
Pays: Japan
ID NLM: 9616295

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 25 04 2023
accepted: 21 09 2023
medline: 1 12 2023
pubmed: 19 10 2023
entrez: 18 10 2023
Statut: ppublish

Résumé

Colorectal polyp burden is crucial for the management of patients with familial adenomatous polyposis (FAP). However, accurate evaluation of polyp burden is difficult to standardize. This study aimed to examine the possible utility of genotype-oriented management of colorectal neoplasms in patients with FAP. Clinicopathological data from genetically proven patients with FAP was analyzed using the database of a nationwide retrospective Japanese multicenter study. The cumulative incidence of CRC was evaluated between different genotype groups. Genotype-1 were defined as germline variants on attenuated FAP-associated regions (codons 1-177, alternative splice site of exon 10 (codon 312), 1581-2843) and Genotype-2 as the other variants. Weibull and Joinpoint analyses were performed to determine the annual percentage changes in CRC risk. Overall, 69 men and 102 women were included. Forty-eight patients underwent colorectal resection for the first CRC, and five patients underwent resection for first cancer in the remnant anorectal segment after prophylactic surgery. The 70-year cumulative incidence of CRC in all patients was 59.3%. Patients with Genotype-1 (n = 23) demonstrated a lower risk of CRC stages II-IV than those with Genotype-2 (n = 148, P = 0.04). The risk of stage II-IV CRC was estimated to increase markedly at the age of 49 years in the Genotype-1 patients and 34 years in the Genotype-2 patients, respectively. Different interventional strategies based on genotypes may be proposed for the clinical management of patients with FAP. This policy needs to be validated in further prospective studies focusing on long-term endoscopic intervention and optimal age at prophylactic (procto)colectomy.

Sections du résumé

BACKGROUND BACKGROUND
Colorectal polyp burden is crucial for the management of patients with familial adenomatous polyposis (FAP). However, accurate evaluation of polyp burden is difficult to standardize. This study aimed to examine the possible utility of genotype-oriented management of colorectal neoplasms in patients with FAP.
METHODS METHODS
Clinicopathological data from genetically proven patients with FAP was analyzed using the database of a nationwide retrospective Japanese multicenter study. The cumulative incidence of CRC was evaluated between different genotype groups. Genotype-1 were defined as germline variants on attenuated FAP-associated regions (codons 1-177, alternative splice site of exon 10 (codon 312), 1581-2843) and Genotype-2 as the other variants. Weibull and Joinpoint analyses were performed to determine the annual percentage changes in CRC risk.
RESULTS RESULTS
Overall, 69 men and 102 women were included. Forty-eight patients underwent colorectal resection for the first CRC, and five patients underwent resection for first cancer in the remnant anorectal segment after prophylactic surgery. The 70-year cumulative incidence of CRC in all patients was 59.3%. Patients with Genotype-1 (n = 23) demonstrated a lower risk of CRC stages II-IV than those with Genotype-2 (n = 148, P = 0.04). The risk of stage II-IV CRC was estimated to increase markedly at the age of 49 years in the Genotype-1 patients and 34 years in the Genotype-2 patients, respectively.
CONCLUSIONS CONCLUSIONS
Different interventional strategies based on genotypes may be proposed for the clinical management of patients with FAP. This policy needs to be validated in further prospective studies focusing on long-term endoscopic intervention and optimal age at prophylactic (procto)colectomy.

Identifiants

DOI: 10.1007/s10147-023-02419-6 PMID: 37853284
pubmed: 37853284
doi: 10.1007/s10147-023-02419-6
pii: 10.1007/s10147-023-02419-6
doi:

Types de publication

Multicenter Study Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1641-1650

Informations de copyright

© 2023. The Author(s) under exclusive licence to Japan Society of Clinical Oncology.

Références

Yen T, Stanich PP, Axell L et al (2022) APC-associated polyposis conditions. 1998 Dec 18. GeneReviews® [Internet]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. University of Washington, Seattle, pp 1993–2022
Tomita N, Ishida H, Tanakaya K et al (2021) Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer. Int J Clin Oncol 26:1353–1419
doi: 10.1007/s10147-021-01881-4 pubmed: 34185173 pmcid: 8286959
Mori Y, Amano K, Chikatani K et al (2022) Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan. Int J Clin Oncol 27:1034–1042
doi: 10.1007/s10147-022-02146-4 pubmed: 35274183
Ishikawa H, Mutoh M, Iwama T et al (2016) Endoscopic management of familial adenomatous polyposis in patients refusing colectomy. Endoscopy 48:51–55
pubmed: 26352809
Matsubara T, Beppu N, Ikeda M et al (2022) Current clinical practice for familial adenomatous polyposis in Japan: a nationwide multicenter study. Ann Gastroenterol Surg 6:778–787
doi: 10.1002/ags3.12577 pubmed: 36338590 pmcid: 9628228
Vasen HFA, Ghorbanoghli Z, de Ruijter B et al (2019) Optimizing the timing of colorectal surgery in patients with familial adenomatous polyposis in clinical practice. Scand J Gastroenterol 54:733–739
doi: 10.1080/00365521.2019.1621930 pubmed: 31401889
Lynch PM, Morris JS, Wen S et al (2016) A proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc 84:115-125.e4
doi: 10.1016/j.gie.2015.12.029 pubmed: 26769407 pmcid: 5570515
Campos FG (2014) Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations. World J Gastroenterol 20:16620–16629
doi: 10.3748/wjg.v20.i44.16620 pubmed: 25469031 pmcid: 4248206
Kartheuser A, Stangherlin P, Brandt D et al (2006) Restorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer 5:241–260
doi: 10.1007/s10689-005-5672-4 pubmed: 16998670
Wallace MH, Frayling IM, Clark SK et al (1999) Attenuated adenomatous polyposis coli: the role of ascertainment bias through failure to dye-spray at colonoscopy. Dis Colon Rectum 42:1078–1080
doi: 10.1007/BF02236707 pubmed: 10458134
Young J, Simms LA, Tarish J et al (1998) A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Hum Mutat 11:450–455
doi: 10.1002/(SICI)1098-1004(1998)11:6<450::AID-HUMU5>3.0.CO;2-P pubmed: 9603437
Cheah PY, Wong YH, Koh PK et al (2014) A novel indel in exon 9 of APC upregulates a ‘skip exon 9’ isoform and causes very severe familial adenomatous polyposis. Eur J Hum Genet 22:833–836
doi: 10.1038/ejhg.2013.245 pubmed: 24169521
Su LK, Barnes CJ, Yao W et al (2000) Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. Am J Hum Genet 67:582–590
doi: 10.1086/303058 pubmed: 10924409 pmcid: 1287518
Jansen AML, Goel A (2020) Mosaicism in patients with colorectal cancer or polyposis syndromes: a systematic review. Clin Gastroenterol Hepatol 18:1949–1960
doi: 10.1016/j.cgh.2020.02.049 pubmed: 32147591
Takao M, Yamaguchi T, Eguchi H et al (2021) APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients. Int J Clin Oncol 26:1661–1670
doi: 10.1007/s10147-021-01946-4 pubmed: 34106356
Richards S, Aziz N, Bale S et al (2015) 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
doi: 10.1038/gim.2015.30 pubmed: 25741868 pmcid: 4544753
James DB (editor) (2016) M.K.G.E. In: Wittekind C editor, TNM classification of malignant tumours, 8th ed. Willey, Oxford
Sieber OM, Segditsas S, Knudsen AL et al (2006) Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. Gut 55:1440–1448
doi: 10.1136/gut.2005.087106 pubmed: 16461775 pmcid: 1856441
Kim HJ, Fay MP, Feuer EJ et al (2000) Permutation tests for joinpoint regression with applications to cancer rates. Stat Med 19:335–351
doi: 10.1002/(SICI)1097-0258(20000215)19:3<335::AID-SIM336>3.0.CO;2-Z pubmed: 10649300
Iwama T, Mishima Y, Utsunomiya J (1993) The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 217:101–108
doi: 10.1097/00000658-199302000-00002 pubmed: 8382467 pmcid: 1242747
Iwama T, Tamura K, Morita T et al (2004) A clinical overview of familial adenomatous polyposis derived from the database of the polyposis registry of Japan. Int J Clin Oncol 9:308–316
doi: 10.1007/s10147-004-0414-4 pubmed: 15375708
Hanson CA, Miller JR (2005) Non-traditional roles for the adenomatous polyposis coli (APC) tumor suppressor protein. Gene 361:1–12
doi: 10.1016/j.gene.2005.07.024 pubmed: 16185824
Spirio L, Olschwang S, Groden J et al (1993) Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75:951–957
doi: 10.1016/0092-8674(93)90538-2 pubmed: 8252630
Sulekova Z, Reina-Sanchez J, Ballhausen WG (1995) Multiple APC messenger RNA isoforms encoding exon 15 short open reading frames are expressed in the context of a novel exon 10A-derived sequence. Int J Cancer 63:435–441
doi: 10.1002/ijc.2910630323 pubmed: 7591245
Rozen P, Samuel Z, Shomrat R et al (1999) Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. Gut 45:829–833
doi: 10.1136/gut.45.6.829 pubmed: 10562580 pmcid: 1727742
Ishikawa H, Yamada M, Sato Y et al (2022) Intensive endoscopic resection for downstaging of polyp burden in patients with familial adenomatous polyposis (J-FAPP Study III): a multicenter prospective interventional study. Endoscopy. https://doi.org/10.1055/a-1945-9120
doi: 10.1055/a-1945-9120 pubmed: 36513106 pmcid: 10060053

Auteurs

Yoshiko Mori (Y)

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
ORCID: 0000-0003-4948-8142

Hideyuki Ishida (H)

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.

Noriyasu Chika (N)

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.

Tetsuya Ito (T)

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.

Kunihiko Amano (K)

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.

Kenichi Chikatani (K)

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.

Yoji Takeuchi (Y)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastrointestinal Oncology, Osaka International Cancer Institute, Osaka, Japan.

Mitsuhiro Kono (M)

Department of Gastrointestinal Oncology, Osaka International Cancer Institute, Osaka, Japan.

Satoki Shichijo (S)

Department of Gastrointestinal Oncology, Osaka International Cancer Institute, Osaka, Japan.

Akiko Chino (A)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastroenterology, Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Tokyo, Japan.

Toshiya Nagasaki (T)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastroenterology, Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Tokyo, Japan.

Akinari Takao (A)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

Misato Takao (M)

Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

Sakiko Nakamori (S)

Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

Kazuhito Sasaki (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgical Oncology, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.

Kiwamu Akagi (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.

Tatsuro Yamaguchi (T)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan. tatsuro@yamaguchi.email.ne.jp.
Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, 3-18-22, Bunkyo-ku, Honkomagome, Tokyo, 113-8677, Japan. tatsuro@yamaguchi.email.ne.jp.

Kohji Tanakaya (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgery, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Japan.

Tomita Naohiro (T)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgery, Toyonaka Municipal Hospital, Toyonaka, Japan.

Yoichi Ajioka (Y)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Division of Molecular and Diagnostic Pathology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

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