Desmoid Tumors in Familial Adenomatous Polyposis Patients: Favorable Outcomes with Multidisciplinary Management

Al-Sukhni, Eisar; Shapiro, Jo; Suraweera, Harini; Semotiuk, Kara; Swallow, Carol J.; Brar, Savtaj; Razak, Albiruni Ryan Abdul; Gupta, Abha; Gladdy, Rebecca A.

doi:10.1245/s10434-023-13675-1

Cited by 5 publications

(1 citation statement)

References 14 publications

(16 reference statements)

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“…Between 3.5% and 32% of cases are associated with familial adenomatous polyposis (FAP) or Gardner syndrome. [ 3 ] The growth pattern of DT is variable; it may gradually increase, remain stable, or spontaneously regress in some instances. [ 4 , 5 ] Although significant progress has been made in DT research over the past decades, the rarity of DT results in limited related case reports and treatment experiences.…”

Section: Introductionmentioning

confidence: 99%

Desmoid tumors of rectus abdominis: A case report and literature review

Guo,

Zhang,

et al. 2024

Medicine

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Rationale: Desmoid tumor (DT) is a rare soft tissue tumor that can occur anywhere in the body. Abdominal wall DT presents unique clinical challenges due to its distinctive manifestations, treatment modalities, and the lack of biomarkers for diagnosis and recurrence prediction, making clinical decisions exceedingly complex. Patient concerns: A 32-year-old female who underwent radical resection combined with patch reinforcement for rectus abdominis DT, successfully alleviating abdominal discomfort, with no recurrence during the 6-month follow-up after surgery. Diagnoses: Based on the imaging studies and medical history, the patient underwent radical surgical resection. Histopathology reveals that the tumor cells predominantly composed of proliferative fibroblasts with local collagen deposition. The lesional cells show positive staining for β-catenin, indicating a diagnosis of DT. Interventions: The patient underwent radical surgical resection with patch reinforcement to repair the abdominal wall defect. Pathology confirmed negative margins, achieving an R0 resection, and genetic testing identified a T41A mutation in CTNNB1. Consequently, no additional adjuvant therapy was administered postoperatively. Outcomes: The patient was discharged with the incision healing well after 3 days postoperation. Upon reexamination 6 months later, no recurrence or adverse complications were observed. Lessons: Abdominal wall DT treatment requires personalized plans from multidisciplinary team discussions. Genetic testing plays a crucial role in identifying novel biomarkers for abdominal wall DT. We have once again demonstrated the significant clinical significance of CTNNB1 mutations in the diagnosis and progression of abdominal wall DT. Additionally, genes such as CCND1, CYP3A4, SLIT1, RRM1, STIM1, ESR2, UGT1A1, among others, may also be closely associated with the progression of abdominal wall DT. Future research should delve deeper into and systematically evaluate the precise impact of these genetic mutations on treatment selection and prognosis for abdominal wall DT, in order to better guide patient management and treatment decisions.

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Section: Introductionmentioning

confidence: 99%

Desmoid tumors of rectus abdominis: A case report and literature review

Guo,

Zhang,

et al. 2024

Medicine

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Letter to the Editor on “Volume-based 18F-FDG-PET/CT predicts prognosis and outcome of active surveillance for intra-abdominal desmoid tumor”

Shirai,

Nakagawa,

Matsuda

et al. 2024

Abdom Radiol

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Adenomatous Polyposis Coli Gene Mutations, Risk Factors, and Long-term Outcomes Associated With Desmoid Tumors in Patients With Familial Adenomatous Polyposis After Colectomy in Japan

Kojima,

Kurachi,

Iwaizumi

et al. 2024

Journal of Clinical Gastroenterology

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Goals: To clarify the characteristics of desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy. Background: Few comprehensive reports have been published on desmoid tumors in Asian patients with familial adenomatous polyposis. Study: This retrospective study included the data of 81 patients with familial adenomatous polyposis who underwent surgery between 1978 and 2021. The adenomatous polyposis coli gene mutation sites, risk factors, and long-term outcomes associated with desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy were analyzed. Results: No association was observed between the gene mutation sites and desmoid tumor development in 40 patients who underwent genetic analyses. The rate of desmoid tumor development was 30.3% in 66 patients. Multivariate analysis revealed that age below 32 years at colectomy (hazard ratio = 5.491, 95% confidence interval 1.820-16.50, P < 0.001) and familial adenomatous polyposis-related malignancies other than colorectal cancer (hazard ratio = 5.574, 95% confidence interval 2.075-14.98, P < 0.001) were independent risk factors for desmoid tumor development following colectomy. The 10-year disease-specific survival and overall survival rates for desmoid tumors were 92.9% and 76.9%, respectively. The median surveillance duration was 90 months. Conclusions: Adenomatous polyposis coli gene mutation sites alone were not considered a factor for delaying or avoiding colectomy to prevent desmoid tumors in Japanese patients with familial adenomatous polyposis. The timing of colectomy and careful surveillance should be considered for managing patients at a high risk of developing desmoid tumors. Desmoid tumors in patients with familial adenomatous polyposis did not significantly impact prognosis, and pharmacological treatments are important for disease control.

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Desmoid Tumors in Familial Adenomatous Polyposis Patients: Favorable Outcomes with Multidisciplinary Management

Cited by 5 publications

References 14 publications

Desmoid tumors of rectus abdominis: A case report and literature review

Desmoid tumors of rectus abdominis: A case report and literature review

Letter to the Editor on “Volume-based 18F-FDG-PET/CT predicts prognosis and outcome of active surveillance for intra-abdominal desmoid tumor”

Adenomatous Polyposis Coli Gene Mutations, Risk Factors, and Long-term Outcomes Associated With Desmoid Tumors in Patients With Familial Adenomatous Polyposis After Colectomy in Japan

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