Desmoid Tumors Characteristics, Clinical Management, Active Surveillance, and Description of Our FAP Case Series

Sanchez-Mete, Lupe; Ferraresi, Virginia; Caterino, M; Martayan, Aline; Terrenato, Irene; Mannisi, E.; Stigliano, V.

doi:10.3390/jcm9124012

Cited by 15 publications

(17 citation statements)

References 73 publications

(123 reference statements)

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“…Bowel obstruction, hydroureter, hydronephrosis, and ischemic lesions are among the complications, but in severe forms, they can complicate with abscess, fistulas, gastrointestinal bleed-ing, and perforation. 3 In our case, she presented with an acute abdomen without apparent severe complications. Desmoid tumours are recognized to be the main reason for mortality in FAP patients who underwent a colectomy.…”

Section: Resultsmentioning

confidence: 59%

The dilemma in management of desmoid tumour: A case report

et al. 2022

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IntroductionDesmoid tumours are rare benign tumours. The tumours may develop sporadically or they may be linked to familial adenomatous polyposis (FAP) in Gardner’s syndrome.AimThis article highlights a young lady with an intra-abdominal desmoid tumour that manifested as an acute abdomen and we discuss our management strategy.Case studyA 24-year-old lady with a known FAP who had undergone a panproctocolectomy with an ileal pouch-anal anastomosis and total thyroidectomy, later was complicated with acute abdomen for symptomatic desmoid tumour. Computed tomography of the abdomen showed a large intraperitoneal heterogenous mass with small bowel displacement and was confirmed by magnetic resonance imaging. An exploratory laparotomy and en-bloc resection of the tumour with an end ileostomy were performed.Results and discussionIntra-abdominal desmoid tumours usually present as a painless slow-growing mass, however, in severe form, it can cause bowel ischemia, intestinal obstruction, or deterioration of function in the ileoanal anastomosis, among post total colectomy. Surgery is indicated upfront in specific clinical scenarios namely complications (occlusion, perforation, or bleeding) or major cosmetic issues.ConclusionsDesmoid tumour, despite being benign, is challenging to manage due to its compressing nature. As a key point, the diagnosis of a desmoid tumour should be suspected and followed up closely in patients with a previous history of FAP in combination with extracolonic manifestation.

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Section: Resultsmentioning

confidence: 59%

The dilemma in management of desmoid tumour: A case report

et al. 2022

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“…Consequently, the disease is easily misdiagnosed as soft tissue sarcoma[ 18 ]. Sanchez-Mete et al [ 19 ] pointed out that soft tissue sarcoma grows rapidly, insufficient blood supply inside the tumor can cause necrosis, and the focus shows expansive growth, compressing the surrounding tissue. Therefore, sarcoma has a clear boundary, while osteofibroma has less necrosis and the invasive growth results in the lack of a clear boundary between the tumor and surrounding tissue; additionally, a band of low signal intensity on T1WI and T2WI can be seen.…”

Section: Discussionmentioning

confidence: 99%

Clinical and imaging features of desmoid tumors of the extremities

Shi¹,

Zhao²,

Jiang³

et al. 2021

WJCC

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BACKGROUND Desmoid fibroma is a rare soft tissue tumor originating from the aponeurosis, fascia, and muscle, and it is also known as aponeurotic fibroma, invasive fibroma, or ligamentous fibroma. AIM To investigate the clinical and imaging features of desmoid tumors of the extremities. METHODS Thirteen patients with desmoid fibroma of the extremities admitted to our hospital from October 2016 to March 2021 were included. All patients underwent computed tomography (CT), magnetic resonance imaging (MRI), and pathological examination of the lesion. Data on the diameter and distribution of the lesion, the relationship between the lesion morphology and surrounding structures, MRI and CT findings, and pathological features were statistically analyzed. RESULTS The lesion diameter ranged from 1.7 to 8.9 cm, with an average of 5.35 ± 2.39 cm. All lesions were located in the deep muscular space, with the left and right forearm each accounting for 23.08% of cases. Among the 13 patients with desmoid fibroma of the extremities, the lesions were "patchy" in 1 case, irregular in 10, and quasi-round in 2. The boundary between the lesion and surrounding soft tissue was blurred in 10 cases, and the focus infiltrated along the tissue space and invaded the adjacent structures. Furthermore, the edge of the lesion showed "beard-like" infiltration in 2 cases; bone resorption and damage were found in 8, and bending of the bone was present in 2; the boundary of the focus was clear in 1. According to the MRI examination, the lesions were larger than 5 cm (61.54%), round or fusiform in shape (84.62%), had an unclear boundary (76.92%), showed uniform signal (69.23%), inhomogeneous enhancement (84.62%), and "root" or "claw" infiltration (69.23%). Neurovascular tract invasion was present in 30.77% of cases. CT examination showed that the desmoid tumors had slightly a lower density (69.23%), higher enhancement (61.54%), and unclear boundary (84.62%); a CT value < 50 Hu was present in 53.85% of lesions, and the enhancement was uneven in 53.85% of cases. Microscopically, fibroblasts and myofibroblasts were arranged in strands and bundles, without obvious atypia but with occasional karyotyping; cells were surrounded by collagen tissue. There were disparities in the proportion of collagen tissue in different regions, with abundant collagen tissue and few tumor cells in some areas, similar to the structure of aponeuroses or ligaments, and tumor cells invading the surrounding tissues. CONCLUSION Desmoid tumors of the extremities have certain imaging features on CT and MRI. The two imaging techniques can be combined to improve the diagnostic accuracy, achieve a comprehensive diagnosis of the disease in the clinical practice, and reduce the risk of missed diagnosis or misdiagnosis. In addition, their use can ensure timely diagnosis and treatment.

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“…The optimal treatment for DTs in FAP patients has not been established due to a lack of sufficient cases. 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].…”

Section: Introductionmentioning

confidence: 90%

“…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: 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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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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Desmoid Tumors Characteristics, Clinical Management, Active Surveillance, and Description of Our FAP Case Series

Cited by 15 publications

References 73 publications

The dilemma in management of desmoid tumour: A case report

The dilemma in management of desmoid tumour: A case report

Clinical and imaging features of desmoid tumors of the extremities

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

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