Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan

Mori, Yoshiko; Amano, Kazutaka; Chikatani, Kenichi; Ito, Tetsuya; Suzuki, Okihide; Kamae, Nao; Hatano, Satoshi; Chika, Noriyasu; Yamamoto, Azusa; Ishibashi, Keiichiro; Eguchi, Hidetaka; Okazaki, Yasushi; Iwama, Takeo; Ishida, Hideyuki

doi:10.1007/s10147-022-02146-4

Cited by 4 publications

(5 citation statements)

References 22 publications

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“…Several studies [10,11,26,27] reported that DTs develop in about 10%-25% of FAP patients and may be the leading cause of death among those who have undergone colectomy [1]. Table 1 presents the summary of the prevalence of DTs according to previous reports [9][10][11][12][13][14][15][16][17][18][19] from world-famous facilities, including the Japanese Society for Cancer of the Colon and Rectum (JSCCR) registry and Japanese single institutes [20][21][22]. The prevalence was 7%-38%, but when the number of patients was more than 100, it was about 7%-20%, which was consistent across the reported years.…”

Section: Prevalence Of Dts In Fap Patientsmentioning

confidence: 99%

“…For more than 30 years, major hospitals around the world have reported on the diagnosis and treatment of FAP-associated DTs [9][10][11][12][13][14][15][16][17][18][19]. Based on these findings, we recently reported data on DTs from Japan as well [20][21][22][23][24][25]. In this review, we summarize recent findings and current management on DTs, which have been considered to have a high mortality rate other than colorectal cancer in FAP.…”

Section: Introductionmentioning

confidence: 98%

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Recent Advances and Current Management for Desmoid Tumor Associated with Familial Adenomatous Polyposis

Kumamoto

Ishida

Tomita

2023

J Anus Rectum Colon

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For nearly half a century, desmoid tumor (DT) has been considered a major complication that occurs in approximately 10%-25% of familial adenomatous polyposis (FAP) patients. It is also the leading cause of death in patients undergoing colectomy. We believe that the mortality rate is improving due to the understanding of the natural history of DT and recent advances in medical treatment. The risk factors of DT development include trauma, having a distal germline APC variant, having a family history of DTs, and estrogens. In the era of minimally invasive surgery, several reports demonstrated no significant difference in both surgical approach (laparoscopic vs. open) and surgical procedure (ileal pouch-anal anastomosis vs. ileorectal anastomosis). Regarding the treatment of FAP-associated DT, rapidly proliferating and life-threatening intra-abdominal DT accounts for approximately 10% of FAP-associated DT; however, it has been shown that it can be controlled by identifying and introducing cytotoxic chemotherapy. Moreover, tyrosine kinase inhibitors and γ-secretases, which are used to treat sporadic DT, which is more frequent than FAP-associated DT, are expected to be effective. In the future, such treatment is expected to further reduce the mortality rate from DT associated with FAP. In addition to the conventional staging of intra-abdominal DT, the classification proposed in Japan was recently thought to be useful for the treatment strategy of FAP-associated DTs. In this review, we summarize the recent advances and current management for the FAP-associated DT, including recent data from Japan.

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Section: Prevalence Of Dts In Fap Patientsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

Recent Advances and Current Management for Desmoid Tumor Associated with Familial Adenomatous Polyposis

Kumamoto

Ishida

Tomita

2023

J Anus Rectum Colon

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“…TKIs have demonstrated efficacy in phase II/III clinical trials; however, the treatment should be selected carefully because these trials include patients with sporadic DTs. 35 In a phase II trial conducted by French Sarcoma Group, the 1-year PFS rate is 67% (but only 6 are FAP-DT patients). 36 In another recent study, 16 of 49 patients (33%) receiving sorafenib reached objective response after a median follow-up of 27.2 months, compared with 7 of 35 patients (20%) in the placebo group, and the 2-year PFS rate for sorafenib is significantly higher (81% vs. 36%).…”

Section: Tkismentioning

confidence: 99%

“…TKIs have demonstrated efficacy in phase II/III clinical trials; however, the treatment should be selected carefully because these trials include patients with sporadic DTs. 35…”

Section: Treatmentmentioning

confidence: 99%

Update on Familial Adenomatous Polyposis-Associated Desmoid Tumors

Yang

Ding

2023

Clin Colon Rectal Surg

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Desmoid tumors (DT) represent the second high risk of tumor in familial adenomatous polyposis (FAP) patients. Although FAP-associated DTs (FAP-DT) are caused by germline mutations in the adenomatous polyposis coli (APC) gene, extracolonic manifestations, sex, family history, genotype, and the ileal pouch anal anastomosis procedure are all linked to the development of DTs in FAP patients. Multidisciplinary management has replaced aggressive surgery as the preferred treatment of DTs. There is growing evidence to support the use of active surveillance strategy as first-line treatment for FAP-DT patients. Radiotherapy for intra-abdominal desmoids is now rarely used because of severe late toxicity. Pharmacotherapy, however, represents a promising future with the improvement of traditional cytotoxic drugs and the investigation of targeted drugs. Although nonsurgery treatment has been used widely nowadays, surgery remains the mainstay when symptomatic or life-threatening DTs are present. Further research will be needed for more optimal clinical practice.

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“…Colorectal polyps (CPs) often develop in early teenage years and, if untreated, increase in number to hundreds to thousands, resulting in a nearly 100 percent lifetime risk of colorectal cancer (CRC) by the age of 60 years [2]. The leading cause of FAP-related deaths is CRC, although the number seems to be decreasing with widespread knowledge of the disease and the performance of prophylactic (procto)colectomy [3]. Today, prophylactic (procto)colectomy is the goldstandard treatment; however, recent trends have focused on individualization of treatment, including endoscopic treatment and/or prolonged prophylactic (procto)colectomy [4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

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

Mori,

Ishida,

Chika

et al. 2023

Int J Clin Oncol

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BackgroundColorectal polyp burden is crucial for the management of patients with familial adenomatous polyposis (FAP). However, accurate evaluation of polyp burden is di cult to standardize. This study aimed to examine the possible utility of genotype-oriented management of colorectal neoplasms in patients with FAP. MethodsClinicopathological 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 de ned 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. ResultsOverall, 69 men and 102 women were included. Forty-eight patients underwent colorectal resection for the rst CRC, and ve patients underwent resection for rst 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 stage 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. ConclusionsDifferent 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.

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Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan

Cited by 4 publications

References 22 publications

Recent Advances and Current Management for Desmoid Tumor Associated with Familial Adenomatous Polyposis

Recent Advances and Current Management for Desmoid Tumor Associated with Familial Adenomatous Polyposis

Update on Familial Adenomatous Polyposis-Associated Desmoid Tumors

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

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