Materiały źródłowe

• #1 Desmoid Tumor | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20406

  The etiology of desmoid tumor is unknown. Most desmoid tumors occur sporadically, and 85% have a mutation in the CTNNB1 encoding -catenin pathway. The 3 distinct mutations identified are 41A, 45F, and 45. Mutation 45F is associated with a high risk of recurrence. […] Desmoid tumor is seen at increased frequency in familial adenomatous polyposis (FAP), mostly abdominal FAP caused by a mutation in the APC gene. Desmoid tumor arising in FAP has a predilection for the prior surgical site, and previous surgery is a risk factor. In patients who are treated with prophylactic colectomy, desmoid tumor is the more important cause of morbidity and mortality than colon cancer. Desmoid tumor occurs with increased frequency in females during or after pregnancy, and anecdotal evidence suggests abdominal wall trauma and high estrogen states are the possible reasons. Pregnancy-associated desmoid tumor has overall better outcomes.

• #2 What is a Desmoid Tumor? – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/what-is-a-desmoid-tumor/

  Desmoid tumors (also known as aggressive fibromatosis, desmoid fibromatosis, and desmoid-type fibromatosis) are rare, locally invasive, soft tissue tumors that form in the connective tissues of the body. […] The majority of desmoid tumors occur spontaneously or randomly, meaning there is no clear cause or pre-existing condition related to the desmoid tumor. These “spontaneous” desmoid tumors often have a mutation in the beta-catenin (CTNNB1) gene. A mutation is a change in the DNA or “blueprint” of the gene. Importantly, in these cases, the mutant beta-catenin gene is only found in the desmoid tumor and is not present in the other cells of the body, is not inheritable, and cannot be passed to children. […] On the other hand, approximately 5-10% of all desmoid tumor cases are related to a rare genetic condition known as familial adenomatous polyposis (F.A.P.), which is an inheritable condition that can run in families or be passed to children. F.A.P. is caused by a mutation in the APC gene that is present throughout all of the cells of the body.

• #3 UNDERSTANDING DESMOID TUMORS: CAUSES AND TREATMENTS | Mya Care

  https://myacare.com/blog/understanding-desmoid-tumors-causes-and-treatments

  Desmoid tumors, also known as desmoid fibromatosis or aggressive fibromatosis, are rare, non-cancerous tumors that can occur in any part of the body. […] The exact cause of desmoid tumors is still unknown. […] Research suggests that they may be caused by mutations in the beta-catenin (-catenin) gene, also known as CTNNB1. […] Desmoid tumors can be either sporadic or inherited. […] Inherited desmoid tumors are caused by a genetic mutation that is passed down from a parent. Desmoid tumors are familial in 5% to 10% of instances. […] One inherited condition that is associated with desmoid tumors is Familial Adenomatous Polyposis (FAP).

• #4 Desmoid Tumors: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/22075-desmoid-tumors

  Desmoid tumors dont always cause symptoms. […] What causes desmoid tumors? […] A desmoid tumor develops when connective tissue cells mutate (change) and multiply. Experts arent sure what triggers the change, but they have found some risk factors. Risk factors for desmoid tumors include: […] Having high estrogen. […] Sex. It’s more common in females. […] Being pregnant. Pregnancy increases your estrogen levels and stretches your abdominal wall. Most pregnancy-related desmoid tumors develop in your abdominal wall. […] Having familial adenomatous polyposis (FAP). About 10% of people with FAP develop desmoid tumors. […] Trauma. Research shows having a serious injury or being repeatedly injured in the same place on your body increases your risk of developing a desmoid tumor. […] Desmoid tumors happen when certain genes mutate and create abnormal connective tissue cells. Experts dont know what triggers this mutation, so theres nothing you can do to prevent it or prevent desmoid tumors.

• #5 Aggressive fibromatosis – Wikipedia

  https://en.wikipedia.org/wiki/Aggressive_fibromatosis

  Wnt signaling pathway alterations are the likely cause of desmoid tumor formation. Mutations have been discovered in both the beta-catenin encoding CTNNB1 gene and the tumor-suppressing APC gene, which affect the Wnt pathway. A 2015 study on desmoid tumors lacking these mutations found that almost all, 95%, „may have mutations that affect the Wnt/-catenin pathway, suggesting a near universal relationship between desmoid tumors and Wnt signaling.” […] 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 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.

• #6 Molecular pathogenesis of desmoid tumor and the role of γ-secretase inhibition | npj Precision Oncology

  https://www.nature.com/articles/s41698-022-00308-1

  Desmoid tumor (DT) is a rare, soft tissue neoplasm associated with an unpredictable clinical course. […] Both sporadic DT and familial adenomatous polyposis (FAP)-associated DT are linked to constitutive activation of the Wnt signaling pathway with mutations in the -catenin oncogene CTNNB1 or the tumor suppressor gene APC, respectively. […] Approximately 85-90% of DT cases are sporadic, associated with mutations in the CTNNB1 gene that encodes -catenin, while 5-10% of cases arise in the context of familial adenomatous polyposis (FAP) in which there is a germline mutation in the adenomatous polyposis coli gene (APC). […] Dysregulation of the Wnt pathway in DT leads to overexpression of Wnt genes involved in proliferation and fibrosis, such as ADAM12, Fap-1, WISP1, and SOX11, as well as genes such as VEGF, which is involved in the regulation of angiogenesis, and COX2, which initiates activation of growth factor receptors, such as the PDGFRs and (PDGF- and PDGF-).

• #7 Desmoid Tumor | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20406

  The etiology of desmoid tumor is unknown. Most desmoid tumors occur sporadically, and 85% have a mutation in the CTNNB1 encoding -catenin pathway. The 3 distinct mutations identified are 41A, 45F, and 45. Mutation 45F is associated with a high risk of recurrence. […] Desmoid tumor is seen at increased frequency in familial adenomatous polyposis (FAP), mostly abdominal FAP caused by a mutation in the APC gene. Desmoid tumor arising in FAP has a predilection for the prior surgical site, and previous surgery is a risk factor. In patients who are treated with prophylactic colectomy, desmoid tumor is the more important cause of morbidity and mortality than colon cancer. Desmoid tumor occurs with increased frequency in females during or after pregnancy, and anecdotal evidence suggests abdominal wall trauma and high estrogen states are the possible reasons. Pregnancy-associated desmoid tumor has overall better outcomes.

• #8 Desmoid tumor: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/desmoid-tumor/

  Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic. […] Mutations in the CTNNB1 gene or the APC gene cause desmoid tumors. CTNNB1 gene mutations account for around 85 percent of sporadic desmoid tumors. APC gene mutations cause desmoid tumors associated with familial adenomatous polyposis as well as 10 to 15 percent of sporadic desmoid tumors. Both genes are involved in an important cell signaling pathway that controls the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation).

• #9 Desmoid tumor: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/desmoid-tumor/

  Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic. […] Mutations in the CTNNB1 gene or the APC gene cause desmoid tumors. CTNNB1 gene mutations account for around 85 percent of sporadic desmoid tumors. APC gene mutations cause desmoid tumors associated with familial adenomatous polyposis as well as 10 to 15 percent of sporadic desmoid tumors. Both genes are involved in an important cell signaling pathway that controls the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation).

• #10 Desmoid tumor: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/desmoid-tumor/

  The protein produced from the APC gene helps regulate levels of beta-catenin in the cell. When beta-catenin is no longer needed, the APC protein attaches (binds) to it, which signals for it to be broken down. Mutations in the APC gene that cause desmoid tumors lead to a short APC protein that is unable to interact with beta-catenin. As a result, beta-catenin is not broken down and, instead, accumulates in cells. Excess beta-catenin, whether caused by CTNNB1 or APC gene mutations, promotes uncontrolled growth and division of cells, allowing the formation of desmoid tumors.

• #11 Desmoid tumors: Epidemiology, molecular pathogenesis, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/desmoid-tumors-epidemiology-molecular-pathogenesis-clinical-presentation-and-diagnosis

  ETIOLOGY AND MOLECULAR PATHOGENESIS […] Wnt/beta-catenin pathway […] Trisomy 8 and 20 […] Mutations in AKT1, BRAF, and TP53 […] […] […] Desmoid tumors are locally aggressive tumors with no known potential for metastasis or dedifferentiation. These tumors are also referred to as aggressive fibromatosis or deep musculoaponeurotic fibromatosis and were previously called fibrosarcoma grade I of the desmoid type. The term „desmoid” originates from the Greek word „desmos,” meaning band or tendon-like, and was first applied in the 1800s to describe tumors with a tendon-like consistency. […] […] […] Although they lack the capacity to establish metastases, tumor-related destruction of vital structures and/or organs can be fatal, particularly when these tumors arise in patients with familial adenomatous polyposis (FAP; Gardner syndrome).

• #12 Desmoid Tumor | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/cancer/desmoid-tumor.html

  Desmoid tumors are benign growths that form in connective tissue. […] Researchers dont know the exact cause of desmoid tumors. But your risk may increase if you: […] Have an inherited syndrome that causes colon polyps (familial adenomatous polyposis, or FAP). About 10 to 20% of people with FAP have a desmoid tumor. […] Have had a recent serious injury or surgery, or repeated injuries or surgeries on one area of your body. […] Have high levels of the estrogen hormone.

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

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

  Desmoid tumors are rare. They are most common in people between the ages of 15-60. They are more common in females than males. […] In 5-10% of cases, desmoid tumors are genetic. People with Gardner syndrome, a form of familial adenomatous polyposis (FAP), have a high risk of developing desmoid tumors.

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

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

  Some are. About 20% to 25% of patients with desmoid tumors carry a mutation in the APC gene that causes a condition called familial adenomatous polyposis (FAP). This makes sheets of precancerous polyps grow in the intestinal tract. That population also has a 50% to 60% probability of developing mesenteric desmoid tumors (MDT), which grow deep inside the belly. Their development often stems from surgical procedures. […] There’s also a mutation called beta-catenin, or -catenin, that’s present with many desmoid tumors. When diagnosis is tricky, you can always test for the -catenin anomaly and confirm that it’s a desmoid tumor.

• #15 6 Causes and Risk Factors for Desmoid Tumor | MyDesmoidTumorTeam

  https://www.mydesmoidtumorteam.com/resources/causes-and-risk-factors-for-desmoid-tumor

  Desmoid tumor cells use estrogen to grow and divide. […] Women who are pregnant or have recently been pregnant are at a higher risk of developing desmoid tumors, per Cancer.Net. […] Desmoid tumors can form in places where you previously had an injury or surgery. […] In some people, the fibroblasts dont turn off after healing a wound. […] Desmoid tumors can develop at any age but are more common in certain age groups.

• #16 Desmoid Tumor: Practice Essentials, Pathophysiology, Etiology

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

  The cause of desmoid tumors is uncertain and may be related to trauma or hormonal factors, or they may have a genetic association. […] An endocrine etiology is suggested. Desmoid tumors most commonly appear in young women during or after pregnancy. The tumors regress during menopause and after tamoxifen treatment. Desmoid tumors may regress after exposure to oral contraceptives. […] The proliferative response of fibroblasts to estrogen has been established.

• #17 Desmoid Tumors: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/22075-desmoid-tumors

  Desmoid tumors dont always cause symptoms. […] What causes desmoid tumors? […] A desmoid tumor develops when connective tissue cells mutate (change) and multiply. Experts arent sure what triggers the change, but they have found some risk factors. Risk factors for desmoid tumors include: […] Having high estrogen. […] Sex. It’s more common in females. […] Being pregnant. Pregnancy increases your estrogen levels and stretches your abdominal wall. Most pregnancy-related desmoid tumors develop in your abdominal wall. […] Having familial adenomatous polyposis (FAP). About 10% of people with FAP develop desmoid tumors. […] Trauma. Research shows having a serious injury or being repeatedly injured in the same place on your body increases your risk of developing a desmoid tumor. […] Desmoid tumors happen when certain genes mutate and create abnormal connective tissue cells. Experts dont know what triggers this mutation, so theres nothing you can do to prevent it or prevent desmoid tumors.

• #18 Soft Tissue Sarcoma: Desmoid Tumors: What They Are, Causes, Symptoms, and Treatment | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/cancer-care/types/soft-tissue-sarcoma/types/desmoid-tumor

  Most desmoid tumors seem to be linked to a genetic change (mutation or variant) in the CTNNB1 gene. Desmoid tumors linked to a CTNNB1 mutation often start during or after pregnancy. […] Some desmoid tumors are caused by an injury. Lesions that start during pregnancy are on the wall of the abdomen (belly). They may go away on their own. […] In rare cases, desmoid tumors are linked to a condition thats inherited (it runs in your family) called familial adenomatous polyposis (FAP). […] FAP raises your risk for hundreds to thousands of polyps (growths of tissue) in your colon and rectum. But it can also cause desmoid tumors to form if you have a kind of FAP called Gardners syndrome. […] Out of every 100 people who have FAP, at least 10 will get a desmoid tumor.

• #19 Desmoid (tumor) fibroma – symptoms, causes, diagnosis and treatment in the best clinics

  https://medtour.help/disease/desmoid-fibroma/

  Desmoid fibromas tend to develop in places of postoperative scars, especially after caesarean section and intra-abdominal resections. […] The exact causes of desmoid fibromatosis are unknown. However, studies show a genetic link. Most desmoids arise from a sporadic (random) gene mutation, and only a small percentage of them are inherited. People with familial adenomatous polyposis or Gardners syndrome are 1,000 times more likely to develop fibromatosis. Other risk factors include the following: sex; age; pregnancy; use of oral contraceptives; injury.

• #20 Can Injury or Surgery Cause Desmoid Tumors? | MyDesmoidTumorTeam

  https://www.mydesmoidtumorteam.com/resources/can-injury-or-surgery-cause-desmoid-tumors

  After recovering from surgery or an injury, you hope thats the end of the story. However, in rare cases, a desmoid tumor develops in the area of prior surgery or injury. […] Up to 25 percent of desmoid tumor cases develop after trauma or surgery. People with familial adenomatous polyposis (FAP) are at an even higher risk following surgery. […] Researchers believe that desmoid tumors can form when fibroblasts dont stop proliferating, eventually leading to desmoid tumors. People with certain gene mutations (variations) are more likely to develop desmoid tumors, especially after an injury or surgery. […] Studies show that desmoid tumors may form after abdominal trauma or surgery. […] Desmoid tumors can also develop where youve been injured. One study followed a group of people who had desmoid tumors after a trauma. The researchers found that the most common injuries associated with desmoid tumors resulted from car and motorcycle accidents, bicycle accidents, and contact sports like boxing. […] The study that followed people after surgery or trauma found that the tumors formed in just under two years an average of 22.9 months from the trauma to the diagnosis. Desmoid tumors after pregnancy took an average of 19.6 months to form.

• #21 Desmoid Tumors: A Clear Perspective or a Persisting Enigma? A Case Report and Review of Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5624685/

  Desmoid tumors are benign but locally aggressive tumors of mesenchymal origin which are poorly circumscribed, infiltrate the surrounding tissue, lack a true capsule and are composed of abundant collagen. […] History of trauma or surgery to the site of tumor origin is elicited in up to one in four cases and they most commonly develop in the anterior abdominal wall and shoulder girdle but they can arise in any skeletal muscle. […] Most desmoid tumors occur sporadically but about 2-5% commonly occur in the abdominal cavity or abdominal wall in association with familial adenomatous polyposis (FAP). […] Inheritance (or new mutation) of one copy of adenomatous polyposis coli (APC) tumor suppressor gene is the cause of FAP and the two commonest causes of deaths in these patients are duodenal cancer and desmoid tumors.

• #22 Can Injury or Surgery Cause Desmoid Tumors? | MyDesmoidTumorTeam

  https://www.mydesmoidtumorteam.com/resources/can-injury-or-surgery-cause-desmoid-tumors

  After recovering from surgery or an injury, you hope thats the end of the story. However, in rare cases, a desmoid tumor develops in the area of prior surgery or injury. […] Up to 25 percent of desmoid tumor cases develop after trauma or surgery. People with familial adenomatous polyposis (FAP) are at an even higher risk following surgery. […] Researchers believe that desmoid tumors can form when fibroblasts dont stop proliferating, eventually leading to desmoid tumors. People with certain gene mutations (variations) are more likely to develop desmoid tumors, especially after an injury or surgery. […] Studies show that desmoid tumors may form after abdominal trauma or surgery. […] Desmoid tumors can also develop where youve been injured. One study followed a group of people who had desmoid tumors after a trauma. The researchers found that the most common injuries associated with desmoid tumors resulted from car and motorcycle accidents, bicycle accidents, and contact sports like boxing. […] The study that followed people after surgery or trauma found that the tumors formed in just under two years an average of 22.9 months from the trauma to the diagnosis. Desmoid tumors after pregnancy took an average of 19.6 months to form.

• #23 Extra-Abdominal Desmoid Tumor – DoveMed

  https://www.dovemed.com/diseases-conditions/extra-abdominal-desmoid-tumor

  Desmoid tumors are benign tumors of the connective tissues that form in the ligaments and tendons of the body. […] The cause of desmoid tumor is generally unknown, but several contributory factors that relate to genetic abnormalities, physical trauma, and hormonal issues have been proposed. […] The exact cause of development of Extra-Abdominal Desmoid Tumor is currently not clearly understood. However, the following observations have been made by research scientists: […] Some studies report that hormonal influence may play a role in tumor formation and development. […] Iatrogenic factors: Trauma due to a surgery is thought to be a most likely cause of tumor formation. […] 85% of the desmoid tumors occurring with no attributed cause (sporadic tumors) show genetic mutations on the CTNNB1 gene; 10-15% show APC gene mutations. The significance of the role of tumor development due to genetic abnormalities is not clearly understood.

• #24 6 Causes and Risk Factors for Desmoid Tumor | MyDesmoidTumorTeam

  https://www.mydesmoidtumorteam.com/resources/causes-and-risk-factors-for-desmoid-tumor

  Desmoid tumor cells use estrogen to grow and divide. […] Women who are pregnant or have recently been pregnant are at a higher risk of developing desmoid tumors, per Cancer.Net. […] Desmoid tumors can form in places where you previously had an injury or surgery. […] In some people, the fibroblasts dont turn off after healing a wound. […] Desmoid tumors can develop at any age but are more common in certain age groups.

• #25 Desmoid Tumors: A Clear Perspective or a Persisting Enigma? A Case Report and Review of Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5624685/

  In FAP-associated cases, desmoid tumors represent an extra-colonic manifestation of polyposis syndrome. […] Although desmoid tumors most commonly arise from the rectus abdominis muscle in postpartum women and in scars due to abdominal surgery, they may arise in any skeletal muscle. […] The myofibroblast is the cell considered to be responsible for the development of desmoid tumors. […] Gardners syndrome or FAP is characterized by colorectal adenomatous polyps and soft and hard tissue neoplasms. […] Some authors regard Gardners syndrome as a subset of FAP, and some have even suggested that the term Gardners syndrome be replaced by FAP. […] Additionally, evidence also exists for a genetic predisposition to desmoid tumors in FAP, independent of the APC mutation. […] Desmoid tumors occur at a rate of 10-15% in patients with FAP, an autosomal inherited disease caused by germline mutations in the APC gene.

• #26 Desmoid Tumor – NCI

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

  Desmoid tumors grow from the connective tissue in your body. They grow from fibroblast cells, which make up connective tissue and are also important for wound healing. […] Desmoid tumors are most common in people between the ages of 15 and 60 years. They are more common in females than males. […] In 5% to 10% of cases, desmoid tumors may run in families. Those diagnosed with Gardner syndrome, a rare syndrome that also runs in families, have a high risk of colorectal cancer and desmoid tumor. […] Scientists are always working to understand how tumors form but it can be hard to prove. We know that some people with a family history of desmoid tumors have a change in a gene called adenomatous polyposis coli, or APC. This change causes too much of a protein called beta-catenin in parts of your cells. Too much beta-catenin can cause cells to grow when they shouldn’t. In some desmoid tumors, there is too much beta-catenin, even though APC is normal.

• #27 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. […] It’s not clear what causes desmoid tumors. Doctors know these tumors form when a connective tissue cell develops changes in its DNA. A cell’s DNA contains the instructions that tell a cell what to do. The changes tell the connective tissue cell to multiply rapidly, creating a mass of cells (tumor) that can invade and destroy healthy body tissue. […] Factors that may increase the risk of desmoid tumors include: Young adult age. Desmoid tumors tend to occur in younger adults in their 20s and 30s. This tumor is rare in children and older people. A genetic syndrome that causes many colon polyps. People with familial adenomatous polyposis (FAP) have an increased risk of desmoid tumors. FAP is caused by a gene mutation that can be passed down from parents to children. It causes numerous growths (polyps) in the colon. Pregnancy. Rarely, a desmoid tumor may develop during or soon after pregnancy. Injury. A small number of desmoid tumors develop in people who’ve recently had an injury or surgery.

• #28 Desmoid Tumor – NCI

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

  Desmoid tumors grow from the connective tissue in your body. They grow from fibroblast cells, which make up connective tissue and are also important for wound healing. […] Desmoid tumors are most common in people between the ages of 15 and 60 years. They are more common in females than males. […] In 5% to 10% of cases, desmoid tumors may run in families. Those diagnosed with Gardner syndrome, a rare syndrome that also runs in families, have a high risk of colorectal cancer and desmoid tumor. […] Scientists are always working to understand how tumors form but it can be hard to prove. We know that some people with a family history of desmoid tumors have a change in a gene called adenomatous polyposis coli, or APC. This change causes too much of a protein called beta-catenin in parts of your cells. Too much beta-catenin can cause cells to grow when they shouldn’t. In some desmoid tumors, there is too much beta-catenin, even though APC is normal.

• #29 Desmoid Tumors: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/22075-desmoid-tumors

  Desmoid tumors dont always cause symptoms. […] What causes desmoid tumors? […] A desmoid tumor develops when connective tissue cells mutate (change) and multiply. Experts arent sure what triggers the change, but they have found some risk factors. Risk factors for desmoid tumors include: […] Having high estrogen. […] Sex. It’s more common in females. […] Being pregnant. Pregnancy increases your estrogen levels and stretches your abdominal wall. Most pregnancy-related desmoid tumors develop in your abdominal wall. […] Having familial adenomatous polyposis (FAP). About 10% of people with FAP develop desmoid tumors. […] Trauma. Research shows having a serious injury or being repeatedly injured in the same place on your body increases your risk of developing a desmoid tumor. […] Desmoid tumors happen when certain genes mutate and create abnormal connective tissue cells. Experts dont know what triggers this mutation, so theres nothing you can do to prevent it or prevent desmoid tumors.

• #30 What is a Desmoid Tumor? – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/what-is-a-desmoid-tumor/

  Desmoid tumors (also known as aggressive fibromatosis, desmoid fibromatosis, and desmoid-type fibromatosis) are rare, locally invasive, soft tissue tumors that form in the connective tissues of the body. […] The majority of desmoid tumors occur spontaneously or randomly, meaning there is no clear cause or pre-existing condition related to the desmoid tumor. These “spontaneous” desmoid tumors often have a mutation in the beta-catenin (CTNNB1) gene. A mutation is a change in the DNA or “blueprint” of the gene. Importantly, in these cases, the mutant beta-catenin gene is only found in the desmoid tumor and is not present in the other cells of the body, is not inheritable, and cannot be passed to children. […] On the other hand, approximately 5-10% of all desmoid tumor cases are related to a rare genetic condition known as familial adenomatous polyposis (F.A.P.), which is an inheritable condition that can run in families or be passed to children. F.A.P. is caused by a mutation in the APC gene that is present throughout all of the cells of the body.

• #31 6 Causes and Risk Factors for Desmoid Tumor | MyDesmoidTumorTeam

  https://www.mydesmoidtumorteam.com/resources/causes-and-risk-factors-for-desmoid-tumor

  Desmoid tumors come from random genetic mutations (changes) a surprise that you didnt see coming. […] In most cases, desmoid tumors occur spontaneously, meaning theres no clear cause. These are sometimes called sporadic desmoid tumors. These tumors develop from cells with somatic mutations mutations a person gains during their lifetime. […] The two most common somatic mutations that cause desmoid tumors are found in the catenin beta-1 (CTNNB1) gene or the APC gene. […] Around 5 percent to 10 percent of desmoid tumors are related to familial adenomatous polyposis (FAP). […] FAP occurs in people with a mutation in the adenomatous polyposis coli (APC) gene. […] People with FAP tend to develop intra-abdominal desmoid tumors. […] Desmoid tumors are more common in females than males.

• #32 FAQs – The Desmoid Tumor Research Foundation

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

  Desmoid tumors are rare, locally invasive, soft tissue tumors that form in the connective tissues of the body. They can occur anywhere in the body. Common sites include the abdominal muscles, inside the abdomen, the head and neck area, trunk, breast, and the extremities. […] The majority of desmoid tumors occur spontaneously or randomly, meaning there is no clear cause or pre-existing condition related to the desmoid tumor. These “spontaneous” desmoid tumors often have a mutation in the beta-catenin (CTNNB1) gene. A mutation is a change in the DNA or “blueprint” of the gene. Importantly, in these cases, the mutant beta-catenin gene is only found in the desmoid tumor and is not present in the other cells of the body, is not inheritable, and cannot be passed to children. […] On the other hand, approximately 5-10% of all desmoid tumor cases are related to a rare genetic condition known as familial adenomatous polyposis (F.A.P.), which is an inheritable condition that can run in families or be passed to children. F.A.P. is caused by a mutation in the APC gene that is present throughout all of the cells of the body.

• #33 What is a Desmoid Tumor? – The Desmoid Tumor Research Foundation

  https://dtrf.org/about-desmoid-tumors/what-is-a-desmoid-tumor/

  Desmoid tumors (also known as aggressive fibromatosis, desmoid fibromatosis, and desmoid-type fibromatosis) are rare, locally invasive, soft tissue tumors that form in the connective tissues of the body. […] The majority of desmoid tumors occur spontaneously or randomly, meaning there is no clear cause or pre-existing condition related to the desmoid tumor. These “spontaneous” desmoid tumors often have a mutation in the beta-catenin (CTNNB1) gene. A mutation is a change in the DNA or “blueprint” of the gene. Importantly, in these cases, the mutant beta-catenin gene is only found in the desmoid tumor and is not present in the other cells of the body, is not inheritable, and cannot be passed to children. […] On the other hand, approximately 5-10% of all desmoid tumor cases are related to a rare genetic condition known as familial adenomatous polyposis (F.A.P.), which is an inheritable condition that can run in families or be passed to children. F.A.P. is caused by a mutation in the APC gene that is present throughout all of the cells of the body.

• #34 Molecular pathogenesis of desmoid tumor and the role of γ-secretase inhibition | npj Precision Oncology

  https://www.nature.com/articles/s41698-022-00308-1

  Despite clear evidence for the role of Wnt signaling dysregulation in DT, there are substantial challenges to identifying therapeutic targets in the Wnt pathway, particularly in finding agents that are efficacious without being deleterious to the system of normal somatic stem cell function in cellular repair and tissue homeostasis. […] The Notch pathway includes 4 receptors (Notch1-4) and at least 5 ligands (Jagged1 [JAG1], JAG2, delta-like 1 [DLL1], DLL3 and DLL4). […] In DT, evidence for dysregulation of Notch signaling was observed in in vitro studies showing that DT tissues expressed higher levels of Notch1 and its downstream target HES1. […] The potential role of cross-talk between the Notch and Wnt signaling pathways, combined with the overexpression of Notch pathway components, provides a mechanistic rationale for targeting Notch inhibition in DT.

• #35 Molecular pathogenesis of desmoid tumor and the role of γ-secretase inhibition | npj Precision Oncology

  https://www.nature.com/articles/s41698-022-00308-1

  Inhibiting the proteolytic activity of -secretase prevents the release of the NICD and its translocation to the nucleus—the key step for activation of all downstream effects leading to decreased expression of several Notch target genes, including those in the HES family. […] Dysregulation of the Wnt signaling pathway plays a key role in DT pathogenesis, however, as the result of crosstalk, Wnt dysregulation may lead to activation of the Notch pathway.

• #36 Molecular pathogenesis of desmoid tumor and the role of γ-secretase inhibition | npj Precision Oncology

  https://www.nature.com/articles/s41698-022-00308-1

  Inhibiting the proteolytic activity of -secretase prevents the release of the NICD and its translocation to the nucleus—the key step for activation of all downstream effects leading to decreased expression of several Notch target genes, including those in the HES family. […] Dysregulation of the Wnt signaling pathway plays a key role in DT pathogenesis, however, as the result of crosstalk, Wnt dysregulation may lead to activation of the Notch pathway.

• #37 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. Also known as aggressive fibromatosis, they’re treated with many of the same therapies that are used on soft tissue cancers like sarcoma, including surgery and chemotherapy. […] Desmoids are a very low-grade, slow-growing, locally invasive tumor. So, they’re not benign in the truest sense of the word, in the same way that a lipoma (or a harmless fatty lump) is. Desmoid tumors can grow to impressive sizes that cause serious symptoms and make people miserable. […] About 1% to 3% of patients are predisposed to developing multiple desmoid tumors. But those are not the same thing as being truly metastatic. Instead, they’re considered multifocal, which means that independent growths arise spontaneously in multiple locations.

• #38 Desmoid tumors: Epidemiology, molecular pathogenesis, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/desmoid-tumors-epidemiology-molecular-pathogenesis-clinical-presentation-and-diagnosis

  ETIOLOGY AND MOLECULAR PATHOGENESIS […] Wnt/beta-catenin pathway […] Trisomy 8 and 20 […] Mutations in AKT1, BRAF, and TP53 […] […] […] Desmoid tumors are locally aggressive tumors with no known potential for metastasis or dedifferentiation. These tumors are also referred to as aggressive fibromatosis or deep musculoaponeurotic fibromatosis and were previously called fibrosarcoma grade I of the desmoid type. The term „desmoid” originates from the Greek word „desmos,” meaning band or tendon-like, and was first applied in the 1800s to describe tumors with a tendon-like consistency. […] […] […] Although they lack the capacity to establish metastases, tumor-related destruction of vital structures and/or organs can be fatal, particularly when these tumors arise in patients with familial adenomatous polyposis (FAP; Gardner syndrome).

• #39

  https://step1.medbullets.com/oncology/422917/desmoid-tumors

  slow growing, locally aggressive fibroblastic tumors associated with a high rate of recurrence despite complete resection […] have no metastatic potential […] risk factors […] familial adenomatous polyposis […] Gardner syndrome […] high estrogen states (e.g., pregnancy) […] antecedent trauma […] APC gene and beta-catenin appear to be involved […] Wnt signaling is thought to play a role […] associated conditions […] familial adenomatous polyposis […] Gardner syndrome […] pregnancy […] desmoid tumors tend to recur at surgical sites […] infiltration to vital organs can result in death even though it is histologically benign […] if desmoid tumor grows in vital structures and organs (e.g., bowel), it can directly compress or disrupt its function.

• #40 Desmoid Tumor | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20406

  The etiology of desmoid tumor is unknown. Most desmoid tumors occur sporadically, and 85% have a mutation in the CTNNB1 encoding -catenin pathway. The 3 distinct mutations identified are 41A, 45F, and 45. Mutation 45F is associated with a high risk of recurrence. […] Desmoid tumor is seen at increased frequency in familial adenomatous polyposis (FAP), mostly abdominal FAP caused by a mutation in the APC gene. Desmoid tumor arising in FAP has a predilection for the prior surgical site, and previous surgery is a risk factor. In patients who are treated with prophylactic colectomy, desmoid tumor is the more important cause of morbidity and mortality than colon cancer. Desmoid tumor occurs with increased frequency in females during or after pregnancy, and anecdotal evidence suggests abdominal wall trauma and high estrogen states are the possible reasons. Pregnancy-associated desmoid tumor has overall better outcomes.

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

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

  While exact causes for the development of desmoid tumors are unknown, hormone-dependent signaling, mechanical stresses, trauma, and healing processes have been proposed as possible factors involved in tumor development and growth. […] Desmoid tumors may be caused by genetic mutations in the DNA where fibroblasts (a cell that is critical to keeping the entire structure of our body intact) behave abnormally and turn into desmoid tumors. […] Other desmoid tumors are caused by mutations in a gene that causes Familial Adenomatous Polyposis (FAP). People with FAP are at high risk of developing abdominal desmoid tumors.

• #42 What Are Desmoid Tumors? Causes, Diagnostic, And Treatment | The Lifesciences Magazine

  https://thelifesciencesmagazine.com/understanding-desmoid-tumors/

  The precise etiology of desmoid tumors remains elusive, although certain predisposing factors have been identified. These include a history of trauma or surgery in the affected area, genetic mutations associated with conditions like familial adenomatous polyposis (FAP), and hormonal influences such as pregnancy. […] Genetic testing may be considered for individuals diagnosed with desmoid tumors, especially if there is a family history of familial adenomatous polyposis (FAP) or other hereditary syndromes associated with an increased risk of tumor development.

• #43

  https://www.sydneysarcomaunit.com.au/desmoid-tumour

  The cause of desmoid tumours is unknown. Some people with a history of desmoid tumours have a change in a gene called adenomatosis polyposis coli (APC). This alters the amount of a protein called beta-catenin in the cell and this in turn promotes tumour growth. APC mutations are associated with colon cancers. In some tumours elevated beta-catenin is seen despite no abnormality in the APC gene. […] Desmoid tumours have unpredictable behaviour and can either grow, stabilise (stop growing) or regress (Shrink).

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