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In 2020, the World Health Organization reclassified desmoid tumors (termed desmoid-type fibromatosis) as a specific type of tumor in the category of intermediate (locally aggressive) fibroblastic and myofibroblastic tumors.
Histologically they resemble very low-grade , but they are very locally aggressive and tend to recur even after complete resection. The condition is "characterized by a variable and often unpredictable clinical course." There is a tendency for recurrence in the setting of prior surgery; in one study, two-thirds of patients with desmoid tumors had a history of prior abdominal surgery. The condition can be chronic and may be debilitating.
History and etymology
Causes and risk factors
The majority of cases are sporadic, most of which – 85% – involve a CTNNB1 mutation. Of these, "the three distinct mutations identified are 41A, 45F, and 45. Mutation 45F is associated with a high risk of recurrence." APC mutations affect FAP patients and make up a smaller percentage, 10–15%, of sporadic cases.
The disease has a tendency to occur during and after pregnancy and in exposure to higher estrogen levels, suggesting a hormonal link. One study noted the formation of desmoid tumors in guinea pigs after prolonged estrogen exposure. Other factors include Physical trauma and surgery.
Risk factors for desmoid disease amongst FAP patients include female sex, a 3' APC mutation, a positive family history, and a history of previous abdominal surgery.
Occurrence
Diagnosis
Diagnosis
Similarities among bland spindle-cell lesions lead to a large number of possibilities in diagnosis, including fibroblastic sarcomas, Gardner fibroma, scar tissue or , superficial fibromatosis, nodular fasciitis, Myofibromatosis, collagenous fibroma, gastrointestinal stromal tumor, solitary fibrous tumor, phyllodes tumor, and other conditions. Such conditions may therefore also be incorrectly diagnosed as desmoid tumors (29% of cases in one review). Some 30–40% of desmoid tumors may be misdiagnosed.
Classification
One analysis has shown a median tumor size of . Though metastasis cannot occur, the tumors may in some cases be multifocal, with several located in the same body part.
A 3' APC mutation is the most significant risk factor for intra-abdominal desmoid development amongst FAP patients. FAP patients presenting with an abdominal wall desmoid pre-operatively are at an increased risk of developing an intra-abdominal desmoid post-operatively.
Desmoid tumors of the breast are rare, constituting 4% of extra-abdominal cases and 0.2–0.3% of breast tumors. Although benign, they can mimic breast cancer on physical examination, mammography and breast ultrasound and can also be locally invasive. Even though they occur sporadically, they can also be seen as a part of Gardner's syndrome. Some cases – up to 44% – occur in patients who have previously had breast surgery. A high index of suspicion and a thorough triple examination protocol is necessary to detect rare lesions like a desmoid tumor which can masquerade as breast carcinoma. Desmoid tumor of the breast may present a difficulty in the diagnosis especially where imaging studies are not conclusive and suggest a more ominous diagnosis. They may arise in the chest wall or the breast itself.
Desmoid tumors may occur in the head and neck, more commonly among children, and tend to be more aggressive than in other extra-abdominal locations. These tumors constitute up to 23% of extra-abdominal cases. Treatment is typically more aggressive due to the increased dangers of a tumor in the area.
Staging
Disease course, treatment, and impacts
Disease course
- Resolution without treatment (10–28%)
- Progression and resolution (30%)
- Stable (50%)
- Rapid progression (10%)
Management of these lesions is complex, the main problem being the high rates of recurrence particularly in FAP-associated disease. Recurrence rates in general vary from 19 to 77 percent. Conversely, for intra-abdominal fibromatosis without evidence of FAP, although extensive surgery may still be required for local symptoms, the risk of recurrence appears to be lower.
Treatment, research, and management
A Phase 2/3 trial on AL102, another selective gamma secretase inhibitor, is also ongoing , having begun in 2021. The drug was granted orphan drug status in 2023.
Wnt pathway inhibitors are also being developed and studied . These include E7386, tegavivint and ipafricept. Additionally, the tumor microenvironment in desmoid tumors is being investigated to find new targets for treatment.
Surgery was the standard treatment for desmoid tumors up to the early 2000s. Due to the condition's unpredictability, more conservative management such as watchful waiting has since become common due to the potential impacts of surgical interventions. As of the 2010s, there is a "clear consensus" from medical groups, including the European Organization for Research and Treatment of Cancer Soft Tissue and Bone Sarcoma Group and the European Society for Medical Oncology: immediate surgical resection is no longer the first-line treatment, particularly in asymptomatic patients. Complete removal is not always possible due to the tumors' infiltrative nature and tendril-like growth.
In more advanced, recurring, or rapidly progressing cases, treatment may consist of complete surgery removal, radiation therapy, (e.g. tamoxifen), nonsteroidal anti-inflammatory drugs (NSAIDs), chemotherapy (e.g. methotrexate and vinblastine or vinorelbine, doxorubicin), or ablation (Cryoablation, heat, ultrasound). Treatment with oral tyrosine kinase inhibitor drugs (e.g. imatinib, sorafenib, pazopanib, sunitinib) shows promising success rates. Radiation therapy after surgery may improve outcomes. Despite the condition's hormonal link, anti-hormonal therapies only appear to work in a small subset of patients.
Intestinal transplant is a treatment option for those patients with complicated desmoid tumor, such as those involving the mesenteric root, or those with intestinal failure resulting from the tumor or prior interventions.
MRI or CT scan imaging scans are commonly used for monitoring.
In contrast with cancer, management of desmoid tumors considers additional outcomes beyond progression-free survival and overall survival as desmoid tumor patients' "survival is longer and... age of onset is generally younger compared with cancer patient populations".
Impacts
Symptoms vary significantly as they are dependent on the tumor's location and effects on the surrounding structures. Though desmoid tumors do not metastasize, their invasiveness may lead to pain and loss of function or restricted movement. Chronic pain is an issue for as many as 63% of patients and may be debilitating and lead to reliance on pain medication. Pressure on vital organs or deformity may occur. Rarely, amputation may be necessary due to injury caused by the tumor or its treatments.
Tumors may be misdiagnosed (30–40%) due to their rarity and a lack of knowledge; patients may initially be given inappropriate treatment or poor prognoses due to misdiagnosis with conditions such as malignant sarcoma. Patients may need to visit multiple healthcare providers to receive a diagnosis, causing delay in care. Patients may experience issues including anxiety, fatigue, or trouble sleeping; despite the increased survival rate, their level of emotional distress has been compared to that of cancer patients, including "patients with sarcoma, also a malignant connective tissue disorder". A lack of knowledge by healthcare providers and of information available to patients and others have also been cited as issues.
The economic burden of treatment may be significant, with surgery costs estimated at $50,000 in 2022 US dollars.
Specific instruments to determine health-related quality of life impacts for desmoid patients, the Gounder/Desmoid Tumor Research Foundation (DTRF) Desmoid Symptom/Impact Scale (GODDESS) and the Desmoid-type fibromatosis Quality of Life Questionnaire (DTF-QOL) have been developed and validated.
ICD-10-CM diagnosis codes
- D48.11: Desmoid tumor
- D48.110: Desmoid tumor of head and neck
- D48.111: Desmoid tumor of chest wall
- D48.112: Desmoid tumor, intrathoracic
- D48.113: Desmoid tumor of abdominal wall
- D48.114: Desmoid tumor, intraabdominal
- Desmoid tumor of pelvic cavity
- Desmoid tumor, peritoneal, retroperitoneal
- D48.115: Desmoid tumor of upper extremity and shoulder girdle
- D48.116: Desmoid tumor of lower extremity and pelvic girdle
- Desmoid tumor of buttock
- D48.117: Desmoid tumor of back
- D48.118: Desmoid tumor of other site
- D48.119: Desmoid tumor of unspecified site
Notable patients
- Dave Dravecky, American baseball pitcher and motivational speaker
- Kevin Reilly, American football player
In animals
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