Update on desmoid tumors

Escobar, Claudia Patricia Gómez; Münker, Ralf; Thomas, Joe; Li, Benjamin D.; Burton, Gary V.

doi:10.1093/annonc/mdr386

Cited by 224 publications

(302 citation statements)

References 55 publications

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“…They have a high incidence of recurrence after surgical resection, with head and neck DTs exhibiting among the highest rate of recurrence and are thus difficult to definitively cure. We have providgrowing, locally invasive, and recur after surgical resection at high rates [2][3][4]. While DTs at all sites commonly recur after surgical excision, recurrence rates with head and neck DTs are much higher.…”

Section: Resultsmentioning

confidence: 99%

“…While DTs do not spread metastatically, they can invade local tissue and frequently recur after surgical resection [2][3][4]; for this reason they are often categorized with low-grade soft tissue sarcomas [5]. Approximately 2-4 cases of DTs per million people occur each year, and account for 0.03% of all neoplasms [6] and 3% of soft tissue tumors [7].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Aggressive Resection of Cervical Desmoid Tumor Invading the Paraspinal Muscles without Recurrence at Eight Year Followup: A Case Report and Review of the Literature

Eichberg¹,

Urakov²,

Vanni³

2017

Clin Med Rev Case Rep

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Objective: To provide an overview of head, neck, and spine Desmoid Tumor (DT), to describe the case of a patient who underwent aggressive surgical resection of a large invasive cervical DT, and to analyze the DT literature. We discuss the importance of aggressive surgical margins in decreasing recurrence risk in head, neck, and spine DTs. Methods:A twenty-three-year-old female patient with history of a left cervical neurofibroma resection presented two years later with neck mass regrowth. The mass was aggressively resected, and occiput to T1 fusion was performed. Additionally, the head, neck, and spine DT literature was reviewed regarding surgical margin status and recurrence rate. A "N-1" Chi-squared test was used to compare proportions, between percentage of patients that experienced recurrence after gross total resection, and percentage of patients that experienced recurrence after subtotal resection, to determine statistical significance (p < 0.05).Results: Histologically, the lesion was shown to be a DT, with posterior paracervical spinal musculature invasion. The surgery was well tolerated with no complications. At eight years postoperative followup, the patient is doing well with no tumor recurrence. Nine studies were identified describing surgical margin status and recurrence rate of head, neck, and spine DT. When recurrence rates were compared in patients with grossly negative surgical margins and grossly positive surgical margins for head, neck, and spine DTs, two studies showed statistical significance (p < 0.05) for lower recurrence rate after gross total resection, and seven showed a trend toward lower recurrence rates in patients with gross total resection. Conclusion:DTs are difficult clinical entities to cure due to high recurrence rate after resection. Consistent with previous studies indicating that aggressive surgical margins are associated with a decreased risk of recurrence, we present a case report of a female patient who underwent aggressive resection of a large DT and remains tumor-free after eight years. Thus, we recommend aggressive surgical resection of head, neck, and spine DTs to minimize recurrence risk.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Aggressive Resection of Cervical Desmoid Tumor Invading the Paraspinal Muscles without Recurrence at Eight Year Followup: A Case Report and Review of the Literature

Eichberg¹,

Urakov²,

Vanni³

2017

Clin Med Rev Case Rep

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“…Extra-abdominal tumors produce symptoms, including pain, weakness and parasthesia. Intra-abdominal lesions can cause intestinal obstruction or ischemia (12). MRI is the most useful imaging technique for diagnosis, showing intermediate intensity on T1-weighted imaging and high signal intensity on T2-weighted imaging.…”

Section: Discussionmentioning

confidence: 99%

Contralateral recurrence of aggressive fibromatosis in a young woman: A case report and review of the literature

2015

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Abstract. Aggressive fibromatosis (AF) is a benign non-encapsulated tumor of mesenchymal origin, with a tendency for local spread along fascial planes. Local invasion can lead to extensive morbidity and even mortality due to destruction of the bones, organs and soft tissues. This rare lesion is observed 1,000 times more frequently in patients with familial adenomatous polyposis or Gardner's syndrome due to the inheritance of the adenomatous polyposis coli (APC) gene. While AF does not metastasize, local recurrence is common. Distant recurrence is extremely rare, but is observed in those with a germ line APC mutation. The present study details the case of a 20-year-old woman with a melanoma of the right shoulder, treated definitively with surgery. The patient then developed a painful mass at the surgical site; a surgical biopsy demonstrated that the mass was AF. The patient was treated with surgical resection, radiation therapy, and a course of tamoxifen. Five years later, the patient presented with left forearm pain and diminished range of motion due to an infiltrating mass. This was excised and a clinical diagnosis of recurrent AF was made, in this patient lacking familial predisposition to the disease.

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“…16 These tumors have become an important cause of morbidity and even mortality. 17 For these reasons, it is important to fully characterize pediatric desmoid-type fibromatosis to identify previously unrecognized FAP families. Indeed, two groups have recently proposed algorithms to characterize the pathogenetic nature of desmoid-type fibromatosis involving immunohistochemistry for b-catenin and somatic variant analysis of CTNNB1, eventually followed by constitutional APC variant analysis.…”

Section: Discussionmentioning

confidence: 99%

Identification of previously unrecognized FAP in children with Gardner fibroma

et al. 2014

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Fibromatous soft tissue lesions, namely desmoid-type fibromatosis and Gardner fibroma, may occur sporadically or as a result of inherited predisposition (as part of familial adenomatous polyposis, FAP). Whereas desmoid-type fibromatosis often present b-catenin overexpression (by activating CTNNB1 somatic variants or APC biallelic inactivation), the pathogenetic mechanisms in Gardner fibroma are unknown. We characterized in detail Gardner fibromas diagnosed in two infants to evaluate their role as sentinel lesions of previously unrecognized FAP. In the first infant we found a 5q deletion including APC in the tumor and the novel APC variant c.4687dup in constitutional DNA. In the second infant we found the c.5826_5829del and c.1678A4T APC variants in constitutional and tumor DNA, respectively. None of the constitutional APC variants occurred de novo and both tumors showed nuclear staining for b-catenin and no CTNNB1 variants. We present the first comprehensive characterization of the pathogenetic mechanisms of Gardner fibroma, which may be a sentinel lesion of previously unrecognized FAP families.

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Update on desmoid tumors

Cited by 224 publications

References 55 publications

Aggressive Resection of Cervical Desmoid Tumor Invading the Paraspinal Muscles without Recurrence at Eight Year Followup: A Case Report and Review of the Literature

Aggressive Resection of Cervical Desmoid Tumor Invading the Paraspinal Muscles without Recurrence at Eight Year Followup: A Case Report and Review of the Literature

Contralateral recurrence of aggressive fibromatosis in a young woman: A case report and review of the literature

Identification of previously unrecognized FAP in children with Gardner fibroma

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