Materiały źródłowe

• #1 Desmoid Tumor – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK459231/

  Desmoid tumor, a rare malignancy of mesenchymal origin, affects a small proportion of the population with an incidence of 2 to 4 patients per million. […] The management of desmoid tumors poses a significant challenge due to the lack of a standard treatment approach. […] The diagnosis of desmoid tumor must be reviewed by an expert soft-tissue pathologist. […] Histological evaluation is needed to confirm the diagnosis. An incisional biopsy is preferred, but a careful biopsy may be sufficient. […] Next-generation sequencing must be done to evaluate for CTNNB1 mutations. […] The significance of a positive margin (R1 or R2 resection) is highly debated. […] Surgical resection is now avoided due to morbid resections, which are often futile due to high recurrence rates. […] Imaging studies like CT scans and MRIs can be done during diagnosis and follow-up.

• #1 Desmoid Tumor / Fibromatosis (DeFi) Trial – SpringWorks Therapeutics

  https://springworkstx.com/patients/desmoid-tumors/

  The definitive diagnosis of desmoid tumors is typically made with a core-needle biopsy, a procedure that removes tissue for pathology testing. Immunohistochemistry and genetic testing are recommended to make the diagnosis. Often it is helpful for an expert soft-tissue pathologist to confirm the desmoid tumor diagnosis to aid in an accurate and timely diagnosis. […] Desmoid tumors are rare, aggressive soft-tissue tumors characterized by locally invasive growth, significant morbidity, and a high rate of recurrence. […] They are often debilitating and disfiguring and can invade surrounding tissues and structures.

• #1 Desmoid tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/desmoid-tumors/diagnosis-treatment/drc-20446388

  Tests and procedures used to diagnose desmoid tumors include: […] Your doctor may recommend imaging tests, such as CT and MRI, to create pictures of the area where your symptoms are occurring. The images may give your doctor clues about your diagnosis. […] To make a definitive diagnosis, your doctor collects a sample of the tumor tissue and sends it to a lab for testing. […] In the lab, doctors trained in analyzing body tissues (pathologists) examine the sample to determine the types of cells involved and whether the cells are likely to be aggressive. This information helps guide your treatment.

• #1 FAQs – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/faqs/

  To make a definitive diagnosis, your oncologist will perform a biopsy to collect a sample of the tumor tissues and a pathologist will examine the tumor cells in a lab. Overproduction of a protein in the cells called beta-catenin can be used as an indicator to help doctors diagnose desmoid tumors. Your doctor can also perform a physical exam to better understand your described symptoms. […] In most cases, magnetic resonance imaging (MRI) is the imaging test of choice to monitor and measure a desmoid tumor. MRIs have superior soft tissue contrast compared to computed tomography (CT) scans; in other words, desmoid tumors are easier to see on an MRI against a background of other soft tissues such as muscle. In addition, MRIs are more accurate at assessing the degree of cellularity (the quantity of active tumor cells shown via T2 signal when compared to CT scans, which is beneficial for determining treatment response. Additionally, unlike X-rays and CT scans, MRIs do not emit ionizing radiation.

• #1 Desmoid Fibromatosis – SFA

  https://curesarcoma.org/sarcoma-subtypes/desmoid-fibromatosis/

  Desmoid fibromatosis is a locally aggressive but non-metastasizing deep-seated (myo)fibroblastic neoplasm with infiltrative growth and propensity for local recurrence. […] Desmoid fibromatosis is a rare, non-cancerous tumor that arises from connective tissue. […] MRI showing mixed hyperintense and isointense signals is suggestive of desmoid fibromatosis; this finding reflects variable content of tumor cellularity and fibrous stroma. […] Desmoid fibromatosis is most commonly diagnosed in the extremities (30–40% of cases). […] The etiology of desmoid fibromatosis is multifactorial and includes genetic factors (most commonly sporadic somatic CTNNB1 mutations and less frequently germline APC mutations in Gardner syndrome) and physical factors (trauma, surgery, pregnancy). […] CTNNB1 mutation analysis may be helpful in small biopsy specimens, when diagnostic morphological features are not readily apparent, and/or when β-catenin immunostaining is equivocal or challenging to interpret. […] Essential: long, sweeping fascicles of bland fibroblasts and myofibroblasts without substantial cytological atypia; infiltrative growth. […] Desirable: nuclear β-catenin expression; characteristic CTNNB1 mutation (in challenging cases or small biopsies).

• #1 :: iMRI :: Investigative Magnetic Resonance Imaging

  https://i-mri.org/DOIx.php?id=10.13104/imri.2017.21.3.162

  To evaluate the imaging findings of desmoid tumors using various imaging modalities and to evaluate whether diffusion-weighted imaging (DWI) can help differentiate between desmoid and malignant tumors. […] The mean ADC value of the desmoid tumors (1493 106 mm2/s) was significantly higher than the mean of the malignant soft tissue tumors (873 106 mm2/s, P 0.001). […] DWI can be useful for the differentiation of desmoid tumors from malignant soft tissue tumors. […] The imaging findings of desmoid tumors usually displayed relatively homogeneous enhancement on the CT and MRI scans and a characteristic whirling or band-like pattern on T2-weighted imaging. […] The desmoid tumors also showed higher ADC values on DWI and intermediate SUVmax values on PET-CT compared with malignant soft tissue tumors. […] The qualitative assessment on the CT and MRI scans may overlap with those of malignant tumors, the quantitative assessment including DWI can be useful for the diagnosis of desmoid tumors and differentiation them from malignant tumors.

• #1 FAQs – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/faqs/

  CT is usually the modality of choice for imaging mesenteric desmoid tumors because bowel motion can make it difficult to see these tumors on MRI. However, once the location of the desmoid tumor is identified with a baseline CT, MRI can be used for follow-up imaging in order to eliminate the radiation exposure one receives from repeated CT scans. […] What kind of tests can confirm a desmoid tumor diagnosis? To make a definitive diagnosis, your oncologist will perform a biopsy to collect a sample of the tumor tissue and a pathologist will examine the tumor cells in a lab. Overproduction of a protein in the cells called beta-catenin can be used as a confirmatory indicator to help diagnose desmoid tumors. Your doctor can also perform a physical exam to better understand your described symptoms.

• #1 Desmoid Tumor Workup: Laboratory Studies, Imaging Studies, Procedures

  https://emedicine.medscape.com/article/1060887-workup

  APC germline mutations in apparently sporadic desmoid tumor patients who have no clinical or familial signs of familial adenomatous polyposis (FAP) but have a family history of colorectal carcinoma in at least one family member were evaluated by Brueckl et al in 2005. […] They reported that patients with sporadic desmoid tumors and no clinical or laboratory signs of FAP may not need to be routinely tested for germline mutations of the APC gene. However, performing an APC mutational analysis instead of other tests (eg, esophagogastroduodenoscopy, complete colonoscopy) may be a more time- and cost-effective plan. […] CT scanning and MRI are used for the diagnosis and follow-up of desmoid tumors. They can help determine the extent of the tumor and its relationship to nearby structures, especially prior to surgical removal. MRI is superior to CT scanning in defining the pattern and the extent of involvement as well as in determining if recurrence has occurred after surgery.

• #1 Clinical and imaging features of desmoid tumors of the extremities

  https://www.wjgnet.com/2307-8960/full/v9/i29/8710.htm

  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. […] The nature of desmoid tumors is between that of benign and malignant tumors, and distant metastasis is rare. However, these tumors are easily misdiagnosed or the diagnosis is missed because they are locally invasive, they recur frequently after surgery, and their imaging features are similar to those of inflammatory lesions or malignant soft tissue tumors; thus, it is difficult to obtain early diagnosis and treatment. […] Imaging examination by CT or MRI plays an important role in the diagnosis and treatment of desmoid tumors of the extremities. […] Although CT and MRI are commonly used in desmoid tumors of the extremities, some researchers have shown that CT scans of desmoid tumors reveal no typical features; however, the CT scan findings show a certain correlation with the histological composition of the lesions, namely, their degree of enhancement is slightly higher than or equal to that of muscle tissue, they show various types of enhancement after contrast administration and soft tissue density, and on plain scans they appear iso-, hypo-, or hyper-dense relative to the density of the surrounding muscles.

• #1 Desmoid tumors | EBSCO Research Starters

  https://www.ebsco.com/research-starters/consumer-health/desmoid-tumors

  Desmoid tumors, also referred to as aggressive fibromatosis, are benign growths that arise from the tissue surrounding muscles, commonly found in the abdominal area. […] Diagnosis involves imaging techniques like ultrasound, CT scans, or MRIs, followed by biopsy. […] Screening and diagnosis: Ultrasound imaging is used initially to examine soft-tissue tumors. A computed tomography (CT) scan or magnetic resonance imaging (MRI) may be used subsequently. The diagnosis of desmoid tumor is made by biopsy. Analysis of the CTNNB1 gene may also contribute to a diagnosis. […] In 2023, Nirogacestat, an oral gamma secretase inhibitor, was approved by the U.S. Food and Drug Administration (FDA) for treatment of desmoid tumors.

• #1 Diagnosis and Management of Desmoid Fibromatosis of the Breast

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11092408/

  Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients with breast disease. […] Diagnosis is often complicated by unclear or ambiguous imaging. The differential diagnosis for this tumor is broad and includes multiple benign and malignant lesions. […] Mammography has traditionally been the modality of choice in screening and diagnosis of breast disease. On mammogram, desmoid fibromatosis typically presents as a spiculated mass, similar in appearance to breast carcinoma. […] The accuracy of mammography for detection of desmoid tumors is unclear, but appears to be less accurate than other modalities. […] Ultrasonography typically yields a more accurate picture of desmoid tumor of the breast.

• #1 A desmoid tumor with fluorodeoxyglucose accumulation arising from the anastomotic site of postoperative gastric cancer: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-022-03635-w

  Desmoid tumors are extremely rare borderline benign and malignant tumors that do not exhibit accumulation on fluorodeoxyglucose positron emission tomographycomputed tomography. […] Preoperative diagnosis with standard imaging modalities is difficult, and desmoid tumors do not exhibit any accumulation of fluorodeoxyglucose on positron emission tomographycomputed tomography (FDG-PET/CT). […] The FDG-PET/CT findings were as follows: The soft tissue mass on the left side of the residual stomach showed moderate FDG accumulation (SUVmax, 5.25). […] Although the possibility of a benign tumor remained, a definitive diagnosis could not be made histopathologically, and moderate FDG accumulation could not rule out a malignant lesion; thus, we decided to operate for diagnostic treatment. […] MRI has excellent tissue resolution and is the most useful imaging technique for diagnosing desmoid tumors, with T1-weighted images showing equal signals and T2-weighted images showing high or heterogeneous signals.

• #1 Diagnosis and Management of Desmoid Fibromatosis of the Breast | Kangas-Dick | World Journal of Oncology

  https://www.wjon.org/index.php/wjon/article/view/1844/1588

  Pathological tissue diagnosis is appropriate for breast desmoid tumors prior to definitive management and is often the source of the diagnosis. […] Many investigators recommend core needle biopsy of these lesions in contrast with fine needle aspiration. […] Accurate diagnosis is vital to avoid a missed malignant sarcoma or metaplastic carcinoma which may change management strategies. […] The differential diagnosis of desmoid tumors is broad, and includes the broad pathology possible with spindle cell neoplasms. […] Importantly, these tumors may often mimic the radiologic appearance of breast carcinoma. […] The clinical presentation of breast desmoid tumor may vary significantly. […] The natural history of desmoid tumors outside of the breast is typically one of slow growth, spontaneous regression or eventual cessation of growth, even without intervention.

• #1 Desmoid Tumor Workup: Laboratory Studies, Imaging Studies, Procedures

  https://emedicine.medscape.com/article/1060887-workup

  The preferred diagnostic test is biopsy of the tumor. A fine-needle aspiration biopsy specimen may be considered. […] Electron microscopy may be performed. On electron microscopic examination, the spindle cells of desmoid tumors appear to be myofibroblasts. This finding is thought to represent an abnormal proliferation of myofibroblasts, which normally disappear gradually during the later stages of wound healing. […] Colonoscopy and fundal examination are indicated to investigate for the presence of Gardner syndrome. […] The tumors are composed of abundant collagen surrounding poorly circumscribed bundles of spindle cells. The dense bundles of eosinophilic spindle cells contain regular nuclei and pale cytoplasm with neither mitoses nor giant cells. Macrophages, giant cells, and lymphocytes are present peripherally. […] The aforementioned features are in contrast to those in a fibrosarcoma, which has greater mitotic activity, an increased nuclear-to-cytoplasm ratio, greater vascularity, less collagen production, and a paucity of immune cells.

• #1 Desmoid Tumours — DermNet

  https://dermnetnz.org/topics/desmoid-tumours

  Desmoid tumours are usually diagnosed through a combination of imaging, including magnetic resonance imaging (MRI), and biopsy. […] Histologically, the tumour is usually poorly circumscribed and composed of proliferating stellate to spindle cells. In most patients, staining for nuclear beta-catenin using immunohistochemistry will be positive and help establish a definitive diagnosis. […] Given the high rate of misdiagnosis that occurs, guidelines recommend a second opinion by an expert pathologist for confirmation.

• #1 Desmoid tumor differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Desmoid_tumor_differential_diagnosis

  Extra-abdominal desmoid tumor must be differentiated from fibrosarcoma, low-grade fibromyxoid sarcoma and Gardner fibroma. Intra-abdominal desmoid tumor must be differentiated from gastrointestinal stromal tumor (GIST), benign fibrous tumor/solitary fibrous tumor (SFT), inflammatory myofibroblastic tumor (IMT), sclerosing mesenteritis and retroperitoneal fibrosis. Furthermore, generally all desmoid tumors must be differentiated from acute hematoma, lymphoma, rhabdomyosarcoma, liposarcoma, leiomyosarcoma, neurofibroma, nodular fasciitis, hypertrophic scars, keloids and primitive neuroectodermal tumor. […] Histologically, desmoid tumors consist of: linearly arranged elongated fibroblasts and myofibroblasts characterized by elongated, tapered cytoplasm; elongated, vesicular, typical-appearing nuclei; and multiple small nucleoli surrounded and separated from each other by collagen. […] Positive for: nuclear beta-catenin (90%), vimentin, alpha smooth muscle actin, muscle actin. […] Negative for: desmin, cytokeratins, S-100, c-KIT. […] Desmoid tumors are benign but have high local aggressive infiltration and high local recurrence.

• #1 CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics | Modern Pathology

  https://www.nature.com/articles/modpathol2012115

  Desmoid tumors are benign monoclonal fibroblastic or myofibroblastic neoplasms, characterized by local invasiveness and high rates of recurrence. Desmoid tumors must be distinguished from benign fibroblastic and myofibroblastic lesions, as well as from low-grade sarcoma, which can appear histologically similar to desmoid tumors. […] On the molecular level, most sporadic desmoid tumors are associated with mutations of the -catenin gene (CTNNB1). […] We identified the common CTNNB1 mutations associated with sporadic desmoid tumors by direct sequencing: in (i) 260 cases of typical desmoid tumors; and (ii) in 191 cases of spindle cell lesions, which can morphologically mimic desmoid tumors. […] CTNNB1 mutations were observed in 223 of 254 (88%) of sporadic desmoid tumors. […] Detection of CTNNB1 mutations in formalin-fixed paraffin-embedded tissues among spindle cell lesions is proposed as a specific diagnostic tool for the diagnosis of desmoid tumors.

• #1 CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics | Modern Pathology

  https://www.nature.com/articles/modpathol2012115

  CTNNB1 sequencing is easy to conduct and reproducible using formalin-fixed paraffin-embedded tissue obtained via core needle biopsy. Our study shows that sequencing of CTNNB1 exon 3 mutations is a specific diagnosis tool/test, which can resolve difficult situations in daily practice such as distinguishing desmoid tumors from benign or malignant fibroblastic lesions.

• #1 Diagnostic – Desmoid Fundation

  https://www.desmoidfoundation.org/en/diagnostic/

  The histological diagnosis of DF should be confirmed by a pathologist experienced in soft tissue tumors. […] The IMMUNOHISTOCHEMICAL EXAMINATION will follow which shows the expression of muscle cell markers (actin, desmin, vimentin) and the absence of CD34. […] Furthermore, the diagnosis can be confirmed by screening for CTNNB1 mutations, that is the mutation of the -catenin gene, which will exclude the APC mutation and Gardners Syndrome.

• #1

  https://link.springer.com/article/10.1007/s12325-023-02592-0

  Desmoid tumors (DT) are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and can affect organs and adjacent structures, resulting in substantial clinical burden impacting patients health-related quality of life. […] Diagnosis of DT is challenging because of its morphologic heterogeneity and variable clinical presentation. Patients visit multiple healthcare providers, often facing delays in correct diagnosis. […] The substantial burden of illness of DT is related to difficulties in timely and accurate diagnosis, high symptom burden (pain and functional limitations), and decreased quality of life. […] The diagnosis of DT requires medical history review and physical examination, imaging, and biopsy and histopathology evaluation. A definitive diagnosis of DT can be made via histopathologic analysis of a biopsy sample of the tumor.

• #1 CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics | Modern Pathology

  https://www.nature.com/articles/modpathol2012115

  Histological diagnosis of a desmoid tumor, based on open biopsy or surgical excision, is usually straight forward. However, the universal use of core needle biopsies makes this diagnosis much more difficult. […] Several spindle cell lesions, such as low-grade sarcomas (particularly low-grade fibromyxoid sarcomas), or reactive lesions such as nodular fasciitis and scars, can appear similar to desmoid tumors. […] In this study, we report the prevalence and spectra of CTNNB1 mutations in a large cohort of sporadic desmoid tumors compared with a panel of lesions known to be histologically similar to or mimic desmoid tumors, in order to evaluate the potential role of CTNNB1 genotyping in the daily practice for positive and differential diagnosis of desmoid tumors. […] The presence of typical exon 3 CTNNB1 mutations allows us to make the diagnosis of sporadic desmoid tumors.

• #1 Desmoid Tumor Information, Resources, and Support – SpringworksLearning you have a desmoid tumorHow desmoid tumors are managed

  https://www.desmoidtumors.com/

  Desmoid tumors are rare and locally-aggressive growths. They are not commonly known or understood, and being diagnosed with one can leave you with more questions than answers. Doctors have described desmoid tumors as having “tendril-like” growths because of how they look and how they can invade surrounding parts of your body. These “tendrils” can grow unpredictably. […] Understanding this condition is the best way to have a voice in your care. It’s also important to know what to ask your doctors and care team—so you can have a better understanding of the condition and its impact on your life. […] Learn information that can help you get a timely and accurate diagnosis. […] Surgery is no longer recommended as the first option for treating desmoid tumors (except in certain situations). […] Healthcare providers who specialize in desmoid tumors may be based at a sarcoma center. If there is not a sarcoma center close to you, it may be possible for your local doctors to work with desmoid tumor experts to create a treatment plan for you.

• #1 Key Desmoid Tumor Diagnostic Strategies –

  https://www.desmoidtumors.com/hcp/diagnosis/

  Collaborate with a desmoid tumor expert to help make an accurate diagnosis. […] Approximately 30% to 40% of desmoid tumors are initially misdiagnosed due to their rarity and histologic mimics. […] The long and confusing road to diagnosis. […] The NCCN Guidelines and Desmoid Tumor Working Group (DTWG) Guideline recommend an initial evaluation and management by a multidisciplinary team with expertise and experience in desmoid tumors. […] Before making a treatment decision, consider consulting with a desmoid tumor expert. […] Imaging NCCN Guidelines recommend the following prior to initiation of a treatment plan for progressive, morbid, or symptomatic disease: CT/MRI scan, Core biopsy. […] Histopathologic assessment and immunostaining for beta-catenin are important for diagnosis of desmoid tumors.

• #1 Diagnosis – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/diagnosis/

  About Desmoid Tumors […] To make a definitive diagnosis, a biopsy is performed to collect a sample of tumor tissue that is then examined by a pathologist in a lab. […] A second opinion by an expert soft tissue pathologist is recommended to confirm a desmoid tumor diagnosis. […] It is important to seek out a sarcoma specialist where possible, as they are more likely to be knowledgeable about desmoid tumor diagnosis and care. […] Physicians can monitor, measure, and support the diagnosis of a desmoid tumor through a magnetic resonance imaging (MRI) scan. […] Many doctors, even oncologists, may not be familiar with or have experience in treating desmoid tumors. […] Because desmoid tumors are rare, cases can be misdiagnosed at the points of clinical examination, pathology, imaging or others. […] This graphic supports why an accurate pathology review by a soft tissue pathologist is critically important.

• #1 Desmoid tumors: 8 things to know | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/desmoid-tumors–8-things-to-know.h00-159622590.html

  Desmoid tumors are slow-growing, locally invasive tumors that develop in the body’s connective tissues. […] Not everyone considers desmoid tumors to be cancerous. […] So, how are they usually diagnosed? […] People usually feel a mass and get it checked out. They might have other symptoms, too, but not always. So, they’ll get a scan, then a biopsy, and then a diagnosis. […] Desmoid tumors in the extremities are often mistaken for other conditions, such as hematomas (severe bruises) and lipomas. So, many times people learn they have them only because they’re getting a scan for something else. […] When diagnosis is tricky, you can always test for the -catenin anomaly and confirm that it’s a desmoid tumor. […] It takes an expert pathologist to tell the difference between scar tissue and a desmoid tumor.

• #1 About Desmoid Tumors | OGSIVEO® (nirogacestat) Patient Site Up to 1650 people2 to 3 timesBetween 20 & 44 years of ageUp to 77% of desmoid tumors may recur

  https://www.ogsiveo.com/about-desmoid-tumors/

  Your doctor may perform a physical exam and ask about your medical and family history. These tests can also help with diagnosis: […] Biopsy: Typically, a tiny sample of the tumor tissue is taken out with a needle and analyzed by a pathologist to confirm if it is a desmoid tumor. […] Imaging Scans (CT or MRI) can also help your doctor see the location and size of the tumor. […] Because they are so rare, desmoid tumors may sometimes be misdiagnosed as: Hypertrophic scars or keloids, Low-grade sarcomas or gastrointestinal stromal tumor (GIST), Benign growths such as nodular fasciitis, lipoma, fibroma, schwannoma, or leiomyoma. […] Your care team may include desmoid tumor specialists, such as: Medical oncologist, Surgeon, orthopedic or surgical oncologist, Radiation oncologist, Pathologist.

• #1 Desmoid Tumor – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK459231/

  Desmoid tumor is more common in adolescents and young adults. Its association with FAP syndrome needs a thorough evaluation with colonoscopy and genetic assessment in patients who first present with desmoid tumors. […] There is no standard approach to managing desmoid tumor. Most experts recommend watchful observation in asymptomatic patients. […] The treatment of desmoid tumor can be divided broadly into asymptomatic resectable, symptomatic resectable, unresectable, and recurrent desmoids. […] The genetics team needs to be involved in the care of young patients.

• #1 Desmoid Tumors: Characteristics and Diagnosis Challenges

  https://www.ajmc.com/view/desmoid-tumors-advancements-and-emerging-therapies

  Desmoid tumors are nonmetastatic but locally invasive tumors that can occur anywhere in the body. […] Patients may experience delayed diagnosis due to desmoid tumors variable presentations and physicians lack of familiarity. […] Early, accurate diagnosis is crucial to avoid exposing patients to unnecessary, potentially harmful treatments. […] Educating surgical and medical oncologists to maintain desmoid tumors as the differential diagnosis is important to ensure appropriate multidisciplinary management. […] Even experienced pathologists may misdiagnose desmoid tumors. […] A collaborative, nuanced approach across specialties is needed for optimal desmoid tumor care.

• #1 Diagnosis and Management of Desmoid Fibromatosis of the Breast

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11092408/

  Hormonal therapy that targets the estrogen receptor is unlikely to be effective. […] Recently, the European Society of Medical Oncology (ESMO) proposed a watch-and-wait paradigm for the management of many sites of desmoid tumors. […] We recommend core needle biopsy for the diagnosis of breast desmoid tumors. […] Each patients case should be discussed at a multidisciplinary tumor board conference with experts present from surgical oncology, radiation oncology, medical oncology, pathology, and diagnostic radiology with particular expertise in breast and sarcoma care. […] After definitive therapy, patients should continue to be followed for surveillance every 3 to 6 months for the first 2 years and yearly with MRI afterwards, as well as continuing age and patient appropriate screening for breast cancer.

• #1 Desmoid tumors: Treatment – UpToDate

  https://www.uptodate.com/contents/desmoid-tumors-systemic-therapy

  Desmoid tumors (also called aggressive fibromatosis, deep musculoaponeurotic fibromatosis, and fibrosarcoma grade I of the desmoid type) are locally aggressive tumors with no known potential for metastasis or dedifferentiation. However, tumor invasion into vital structures and/or organs can result in substantial morbidity and may be fatal, especially in the case of intra-abdominal desmoids, particularly those arising in patients with familial adenomatous polyposis (FAP). […] This topic review will discuss treatment options for desmoid tumors. The epidemiology, clinical presentation, and diagnosis of desmoids are discussed elsewhere. (See „Desmoid tumors: Epidemiology, molecular pathogenesis, clinical presentation, and diagnosis”.) […] Initial surveillance — In patients with newly diagnosed desmoid tumors, we pursue active surveillance as the initial management unless patients have moderate or severe symptoms that cannot be controlled with appropriate supportive care (eg, nonsteroidal anti-inflammatory agents [NSAIDs] or acetaminophen) or further progression of the tumor would cause significant morbidity (eg, threatens a limb or vital organ). Active surveillance typically involves imaging studies at least every three to six months. […] Support for observation as a treatment strategy is supported in several studies. As an example, in a phase III trial comparing the use of sorafenib with placebo in patients with desmoid fibromatosis, 20 percent of patients in the placebo arm had a partial response.

• #1

  https://link.springer.com/article/10.1007/s13126-018-0494-7

  Desmoid tumors account for 3% of all soft tissue tumors and 0.03% of all neoplasms. […] Various imaging techniques have been used for diagnosis and monitoring of desmoids, including ultrasound (U/S), magnetic resonance imaging (MRI), computed tomography (CT) scan, positron emission tomography (PET) scan and plain X-ray. The definitive diagnosis requires biopsy. […] Desmoids usually express -catenin and vimentin. Sporadic tumors are associated with CTNNB1 mutation of -catenin. If this mutation is identified, the presence of any syndrome can be excluded. […] The basic therapeutic approaches are surgical excision, radiotherapy and medical treatment with anti-estrogen, nonsteroid anti-inflammatory drugs (NSAIDs), cytotoxic chemotherapy and molecular therapies. Close observation of the disease progress is imperative, whether the wait and watch strategy has been chosen or a specific treatment has been applied. Imaging, preferably MRI, should be performed every 3 months for the first year after diagnosis, every 6 months for the second year and annually thereafter.

• #1 Multimodality imaging features of desmoid tumors: a head-to-toe spectrum | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1186/s13244-020-00908-0

  The primary role of imaging examination is to define the extension and potential resectability of the lesion. […] Presently, guidelines recommend observation (wait-and-see policy or expectant management) as a primary treatment option for unresectable tumors or resectable but asymptomatic tumors. […] If DTs are managed non-operatively, periodic imaging assessment is mandatory, especially if intra-abdominal (3-6 month interval). CT is applied to monitor intra-abdominal DTs, and MR imaging is the modality of choice for the follow-up of extra-abdominal and pelvic DTs. […] MRI is preferred due to the prognostic value of the T2 signal and enhancement: higher T2 signal and contrast enhanced seem to be associated to a more rapid growth rate.

• #1 FAQs – Desmoid Fundation

  https://www.desmoidfoundation.org/en/faqs/

  It depends on the tumor rate of growth: normally during the active periods checks are closer, every 2-3 months; in cases of disease stabilization or slow growth they can be lengthened and performed every six months or annually. […] In desmoid tumor, different pharmacological treatments can be used: initially we tend to use anti-inflammatory drugs, such as Colecoxib, or anti-estrogen drugs, such as Tamoxifen or Toremifene, which are easier to handle and have fewer side effects. […] The second step involves the use of low-dose chemotherapy, especially with Vinblastine and Metrotrexate. […] In cases its necessary to be more aggressively and suddenly in decreasing the tumor, chemotherapy at higher doses can be used. […] New drugs, currently under study through clinical trials, are Nirogacestat, an inhibitor of -secretases, and Tegavivint, which acts directly on -catenin.

• #2 Desmoid tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/desmoid-tumors/symptoms-causes/syc-20355083

  Desmoid tumors are noncancerous growths that occur in the connective tissue. […] Desmoid tumors most often occur in the abdomen, arms and legs. […] Some desmoid tumors are slow growing and don’t require immediate treatment. Others grow quickly and are treated with surgery, radiation therapy, chemotherapy or other drugs. […] For this reason, people with desmoid tumors are often cared for by cancer doctors. […] Make an appointment with your doctor if you have any persistent signs or symptoms that worry you. […] Doctors know these tumors form when a connective tissue cell develops changes in its DNA. […] The changes tell the connective tissue cell to multiply rapidly, creating a mass of cells (tumor) that can invade and destroy healthy body tissue. […] Desmoid tumors tend to occur in younger adults in their 20s and 30s.

• #2 Desmoid Tumor – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoid-tumor

  Desmoid tumors are locally aggressive tumors. […] If you have symptoms of a desmoid tumor, your doctor may use imaging scans such as CT, MRI, or ultrasound to see where the tumor is and its size. […] To check if the tumor is a desmoid tumor your doctor will do a biopsy, taking a small amount of the tumor out with a needle. A pathologist will study the cells under the microscope to see what kind of tumor it is. Depending on the tumor’s location, it may be difficult for the doctor to take a biopsy.

• #2 FAQs – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/faqs/

  In most cases, magnetic resonance imaging (MRI) is the imaging test of choice to monitor and measure a desmoid tumor. MRI has superior soft tissue contrast compared to computed tomography (CT) scans; in other words, desmoid tumors are easier to see on an MRI against a background of other soft tissues such as muscle. In addition, an MRI is more accurate at assessing the degree of cellularity (the quantity of active cells shown via T2 signal) when compared to CT scans, which is beneficial for determining treatment response. Additionally, unlike X-rays and CT scans, an MRI does not emit ionizing radiation. […] CT is usually the modality of choice for imaging mesenteric desmoid tumors because bowel motion can make it difficult to see these tumors on MRI. However, once the location of the desmoid tumor is identified with a baseline CT, MRI can be used for follow-up imaging in order to eliminate the radiation exposure one receives from repeated CT scans.

• #2 Clinical and imaging features of desmoid tumors of the extremities

  https://www.wjgnet.com/2307-8960/full/v9/i29/8710.htm

  In the current study, it was found that the CT features of desmoid tumors of the extremities exhibited a slightly low density, mild enhancement, unclear boundary, and uneven enhancement after contrast administration. Their imaging features on MRI were round or fusiform shape, unclear boundary, uniform signal, uneven enhancement, „tree root” or „claw” infiltration, and invasion of the neurovascular bundles. […] 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.

• #2 Diagnosis and Management of Desmoid Fibromatosis of the Breast | Kangas-Dick | World Journal of Oncology

  https://www.wjon.org/index.php/wjon/article/view/1844/1588

  Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients with breast disease. […] Diagnosis is often complicated by unclear or ambiguous imaging. The differential diagnosis for this tumor is broad and includes multiple benign and malignant lesions. […] The accuracy of mammography for detection of desmoid tumors is unclear, but appears to be less accurate than other modalities. […] In the MSKCC series, mammogram detected a mass in only 10 out of 16 confirmed cases (62%). […] Ultrasonography typically yields a more accurate picture of desmoid tumor of the breast. […] There are limited data on the specific value of magnetic resonance imaging (MRI) for diagnosis of breast desmoids; however, other sites have been studied at length.

• #2 A desmoid tumor with fluorodeoxyglucose accumulation arising from the anastomotic site of postoperative gastric cancer: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-022-03635-w

  However, desmoid tumors have no characteristic imaging findings, and making a definitive preoperative diagnosis is considered extremely difficult. […] As our patient was a postoperative gastric cancer patient, the moderate accumulation on FDG-PET/CT could not be ruled out as a recurrence of gastric cancer or lymph node metastasis. […] The local recurrence rate of desmoid tumors is extremely high, ranging between 56% and 86%. […] In the present study, we encountered a desmoid tumor arising from the anastomotic site of a postoperative gastric cancer. The present case is rare in that FDG-PET/CT showed desmoid tumor accumulation, and a preoperative diagnosis could not be made. We hope that further studies will improve the accuracy of preoperative diagnosis.

• #2 Diagnosis – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/diagnosis/

  About Desmoid Tumors […] To make a definitive diagnosis, a biopsy is performed to collect a sample of tumor tissue that is then examined by a pathologist in a lab. […] A second opinion by an expert soft tissue pathologist is recommended to confirm a desmoid tumor diagnosis. […] It is important to seek out a sarcoma specialist where possible, as they are more likely to be knowledgeable about desmoid tumor diagnosis and care. […] Physicians can monitor, measure, and support the diagnosis of a desmoid tumor through a magnetic resonance imaging (MRI) scan. […] Many doctors, even oncologists, may not be familiar with or have experience in treating desmoid tumors. […] Because desmoid tumors are rare, cases can be misdiagnosed at the points of clinical examination, pathology, imaging or others. […] This graphic supports why an accurate pathology review by a soft tissue pathologist is critically important.

• #2 CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics | Modern Pathology

  https://www.nature.com/articles/modpathol2012115

  Histological diagnosis of a desmoid tumor, based on open biopsy or surgical excision, is usually straight forward. However, the universal use of core needle biopsies makes this diagnosis much more difficult. […] Several spindle cell lesions, such as low-grade sarcomas (particularly low-grade fibromyxoid sarcomas), or reactive lesions such as nodular fasciitis and scars, can appear similar to desmoid tumors. […] In this study, we report the prevalence and spectra of CTNNB1 mutations in a large cohort of sporadic desmoid tumors compared with a panel of lesions known to be histologically similar to or mimic desmoid tumors, in order to evaluate the potential role of CTNNB1 genotyping in the daily practice for positive and differential diagnosis of desmoid tumors. […] The presence of typical exon 3 CTNNB1 mutations allows us to make the diagnosis of sporadic desmoid tumors.

• #2 Desmoid tumor differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Desmoid_tumor_differential_diagnosis

  Extra-abdominal desmoid tumor must be differentiated from fibrosarcoma, low-grade fibromyxoid sarcoma and Gardner fibroma. Intra-abdominal desmoid tumor must be differentiated from gastrointestinal stromal tumor (GIST), benign fibrous tumor/solitary fibrous tumor (SFT), inflammatory myofibroblastic tumor (IMT), sclerosing mesenteritis and retroperitoneal fibrosis. Furthermore, generally all desmoid tumors must be differentiated from acute hematoma, lymphoma, rhabdomyosarcoma, liposarcoma, leiomyosarcoma, neurofibroma, nodular fasciitis, hypertrophic scars, keloids and primitive neuroectodermal tumor. […] Histologically, desmoid tumors consist of: linearly arranged elongated fibroblasts and myofibroblasts characterized by elongated, tapered cytoplasm; elongated, vesicular, typical-appearing nuclei; and multiple small nucleoli surrounded and separated from each other by collagen. […] Positive for: nuclear beta-catenin (90%), vimentin, alpha smooth muscle actin, muscle actin. […] Negative for: desmin, cytokeratins, S-100, c-KIT. […] Desmoid tumors are benign but have high local aggressive infiltration and high local recurrence.

• #2 Diagnostic – Desmoid Fundation

  https://www.desmoidfoundation.org/en/diagnostic/

  The histological diagnosis of DF should be confirmed by a pathologist experienced in soft tissue tumors. […] The IMMUNOHISTOCHEMICAL EXAMINATION will follow which shows the expression of muscle cell markers (actin, desmin, vimentin) and the absence of CD34. […] Furthermore, the diagnosis can be confirmed by screening for CTNNB1 mutations, that is the mutation of the -catenin gene, which will exclude the APC mutation and Gardners Syndrome.

• #2 Key Desmoid Tumor Diagnostic Strategies –

  https://www.desmoidtumors.com/hcp/diagnosis/

  The DTWG Guideline recommends performing a mutational analysis in desmoid tumor biopsy specimens to confirm diagnosis and guide the workup when appropriate. […] The heterogeneous morphology of desmoid tumors can make diagnosis challenging. […] In addition to heterogeneous morphology, accurate diagnosis is also complicated due to histologic mimics. […] Presence of CTNNB1 or APC mutations can help confirm a desmoid tumor diagnosis.

• #2

  https://link.springer.com/article/10.1007/s12325-023-02592-0

  Delays in diagnosis: patient-related delays can result from the inability to recognize the importance of symptoms, whereas healthcare provider-related delays can result from practice settings in which providers lack specific expertise in DT, potential for incorrect referral, and multiple healthcare provider visits prior to a correct diagnosis. […] Misdiagnosis: misdiagnosis is common in rare diseases such as DT. Based on pathologic similarities with other myofibroblastic diseases (e.g., sarcoma, gastrointestinal stromal tumor, nodular fasciitis, leiomyoma) and the low incidence of DT, 30-40% of DT cases are reported to be misdiagnosed following histologic analysis. […] The clinical burden of patients with DT is considerable because of the pain and physical limitations resulting from the chronic infiltrative nature of this disease, in addition to the functional impacts resulting from surgical interventions. […] Because of the highly variable presentation and symptoms of DT, treatment requires a highly individualized approach. Thus, it is important that patients be evaluated by a multidisciplinary team with expertise and experience in sarcoma to optimize management.

• #2 Diagnosis and Management of Desmoid Fibromatosis of the Breast | Kangas-Dick | World Journal of Oncology

  https://www.wjon.org/index.php/wjon/article/view/1844/1588

  Pathological tissue diagnosis is appropriate for breast desmoid tumors prior to definitive management and is often the source of the diagnosis. […] Many investigators recommend core needle biopsy of these lesions in contrast with fine needle aspiration. […] Accurate diagnosis is vital to avoid a missed malignant sarcoma or metaplastic carcinoma which may change management strategies. […] The differential diagnosis of desmoid tumors is broad, and includes the broad pathology possible with spindle cell neoplasms. […] Importantly, these tumors may often mimic the radiologic appearance of breast carcinoma. […] The clinical presentation of breast desmoid tumor may vary significantly. […] The natural history of desmoid tumors outside of the breast is typically one of slow growth, spontaneous regression or eventual cessation of growth, even without intervention.

• #2 Multimodality imaging features of desmoid tumors: a head-to-toe spectrum | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1186/s13244-020-00908-0

  Desmoid tumors (DTs) are a rare and biologically heterogeneous group of locally aggressive fibroblastic neoplasm: their biological behavior spectrum ranges from indolent to aggressive tumors. […] Awareness of common locations, risk factors, and imaging features is fundamental for a correct diagnosis and an adequate patient management. […] The histopathologic confirmation is mandatory especially to rule out malignant tumor such as fibrosarcoma. A diagnosis of DT can be performed on core biopsies using 14G or 16G needles at a dedicated diagnostic clinic by a specialist radiologist in conjunction with a sarcoma surgeon. […] Due to the rarity of DTs, misdiagnosed cases are about 30-40% during initial work-up also in reference centers. […] US (ultrasound), CT (computed tomography), and MRI (magnetic resonance imaging) have different roles in the diagnosis of DT depending on its locations and clinical presentation.

• #2 Diagnosis and Management of Desmoid Fibromatosis of the Breast

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11092408/

  Hormonal therapy that targets the estrogen receptor is unlikely to be effective. […] Recently, the European Society of Medical Oncology (ESMO) proposed a watch-and-wait paradigm for the management of many sites of desmoid tumors. […] We recommend core needle biopsy for the diagnosis of breast desmoid tumors. […] Each patients case should be discussed at a multidisciplinary tumor board conference with experts present from surgical oncology, radiation oncology, medical oncology, pathology, and diagnostic radiology with particular expertise in breast and sarcoma care. […] After definitive therapy, patients should continue to be followed for surveillance every 3 to 6 months for the first 2 years and yearly with MRI afterwards, as well as continuing age and patient appropriate screening for breast cancer.

• #2 Desmoid Tumor Treatment | OGSIVEO®(nirogacestat) HCP Site

  https://www.ogsiveo.com/hcp/desmoid-tumor-treatment/

  Desmoid tumors are associated with a potentially high and multifaceted burden of illness. […] In medical literature and clinical practice, desmoid tumors may also be referred to as aggressive fibromatosis, desmoid-type fibromatosis, or deep fibromatosis. […] Identifying the earliest signs of desmoid tumor progression is key for patient management. […] NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) recommendations for initiating treatment include symptoms, impairing or threatening in function, and tumor growth documented on imaging (e.g., MRI or CT). […] The NCCN Guidelines and Desmoid Tumor Working Group (DTWG) Guideline recommend evaluation and management of patients by a multidisciplinary team with expertise and experience in desmoid tumors prior to the initiation of a treatment plan.

• #2 Desmoid Tumors | Huntsman Cancer Institute | University of Utah Health

  https://healthcare.utah.edu/huntsmancancerinstitute/sarcoma/desmoid-tumors

  Desmoid tumors can be hard to predict. […] Doctors use these tests to diagnose desmoid tumors: […] A health care provider examines your body. Your personal health habits, past illnesses, and symptoms help guide the exam. […] Your health care provider uses ultrasounds, x-rays, an MRI, or a CT scan to identify the location and size of the tumor. […] The health care provider removes cells or tissue samples so they can be viewed under a microscope.

• #2 Desmoid tumors – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/desmoid-tumors/

  Diagnosis includes imaging and requires biopsy with immunohistochemistry for confirmation. […] Imaging: shows infiltration of muscles, deep tissue, and along muscle planes […] Core needle biopsy (definitive diagnosis) […] Histology: multiple fibroblasts with spindle cell morphology, numerous blood vessels, and poorly defined borders […] Immunohistochemistry: stain for vimentin, smooth muscle actin, and nuclear beta-catenin […] Molecular analysis: CTNNB1 or APC mutations. […] Other: Colonoscopy and germline testing should be considered if FAP is suspected.

• #2 Dr. Wilky on the Diagnosis and Management of Desmoid Tumors

  https://www.onclive.com/view/dr-wilky-on-the-diagnosis-and-management-of-desmoid-tumors

  Breelyn Wilky, MD, discusses the diagnosis and management of desmoid tumors. […] Like sarcomas, desmoid tumors are rare, so patients are often misdiagnosed with a bone spur or cyst. As such, it is critical for patients to seek a second opinion from a soft tissue tumor specialist to confirm an accurate diagnosis. […] Although the field hopes that novel agents like nirogacestat will be effective in this patient population, this subgroup represents an area of unmet need, Wilky concludes.

• #2

  https://link.springer.com/article/10.1007/s13126-018-0494-7

  Desmoid tumors account for 3% of all soft tissue tumors and 0.03% of all neoplasms. […] Various imaging techniques have been used for diagnosis and monitoring of desmoids, including ultrasound (U/S), magnetic resonance imaging (MRI), computed tomography (CT) scan, positron emission tomography (PET) scan and plain X-ray. The definitive diagnosis requires biopsy. […] Desmoids usually express -catenin and vimentin. Sporadic tumors are associated with CTNNB1 mutation of -catenin. If this mutation is identified, the presence of any syndrome can be excluded. […] The basic therapeutic approaches are surgical excision, radiotherapy and medical treatment with anti-estrogen, nonsteroid anti-inflammatory drugs (NSAIDs), cytotoxic chemotherapy and molecular therapies. Close observation of the disease progress is imperative, whether the wait and watch strategy has been chosen or a specific treatment has been applied. Imaging, preferably MRI, should be performed every 3 months for the first year after diagnosis, every 6 months for the second year and annually thereafter.

• #2 About Desmoid Tumors | OGSIVEO® (nirogacestat) Patient Site Up to 1650 people2 to 3 timesBetween 20 & 44 years of ageUp to 77% of desmoid tumors may recur

  https://www.ogsiveo.com/about-desmoid-tumors/

  Your doctor may perform a physical exam and ask about your medical and family history. These tests can also help with diagnosis: […] Biopsy: Typically, a tiny sample of the tumor tissue is taken out with a needle and analyzed by a pathologist to confirm if it is a desmoid tumor. […] Imaging Scans (CT or MRI) can also help your doctor see the location and size of the tumor. […] Because they are so rare, desmoid tumors may sometimes be misdiagnosed as: Hypertrophic scars or keloids, Low-grade sarcomas or gastrointestinal stromal tumor (GIST), Benign growths such as nodular fasciitis, lipoma, fibroma, schwannoma, or leiomyoma. […] Your care team may include desmoid tumor specialists, such as: Medical oncologist, Surgeon, orthopedic or surgical oncologist, Radiation oncologist, Pathologist.

• #2 Desmoid Tumors: Characteristics and Diagnosis Challenges

  https://www.ajmc.com/view/desmoid-tumors-advancements-and-emerging-therapies

  Desmoid tumors are nonmetastatic but locally invasive tumors that can occur anywhere in the body. […] Patients may experience delayed diagnosis due to desmoid tumors variable presentations and physicians lack of familiarity. […] Early, accurate diagnosis is crucial to avoid exposing patients to unnecessary, potentially harmful treatments. […] Educating surgical and medical oncologists to maintain desmoid tumors as the differential diagnosis is important to ensure appropriate multidisciplinary management. […] Even experienced pathologists may misdiagnose desmoid tumors. […] A collaborative, nuanced approach across specialties is needed for optimal desmoid tumor care.

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