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Desmoid disease, hereditary(FIF)

MedGen UID:
338210
Concept ID:
C1851124
Disease or Syndrome
Synonyms: Fibromatosis, familial infiltrative; FIF
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): APC (5q22.2)
OMIM®: 135290

Definition

Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically (Couture et al., 2000). [from OMIM]

Additional description

From GHR
A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal.The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs.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.  https://ghr.nlm.nih.gov/condition/desmoid-tumor

Clinical features

Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Malignant Skin Neoplasm
MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. . Anyone can get skin cancer, but it is more common in people who . - Spend a lot of time in the sun or have been sunburned. - Have light-colored skin, hair and eyes. - Have a family member with skin cancer. - Are over age 50. You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.
Desmoid tumors
MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)
Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
The presence of multiple polyps in the intestine.
Sarcoma
MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. . Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include. -Bright red blood in vomit. -Vomit that looks like coffee grounds. -Black or tarry stool. -Dark blood mixed with stool. Signs of bleeding in the lower digestive tract include. -Black or tarry stool. -Dark blood mixed with stool. -Stool mixed or coated with bright red blood. GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. . Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include. -Bright red blood in vomit. -Vomit that looks like coffee grounds. -Black or tarry stool. -Dark blood mixed with stool. Signs of bleeding in the lower digestive tract include. -Black or tarry stool. -Dark blood mixed with stool. -Stool mixed or coated with bright red blood. GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Abnormality of the upper urinary tract
MedGen UID:
869219
Concept ID:
C4023641
Anatomical Abnormality
An abnormality of the upper urinary tract.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including. -Other heart problems, such as angina. -Panic attacks. -Digestive problems, such as heartburn or esophagus disorders. -Sore muscles. -Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism. -Costochondritis - an inflammation of joints in your chest. Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. . Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include. -Bright red blood in vomit. -Vomit that looks like coffee grounds. -Black or tarry stool. -Dark blood mixed with stool. Signs of bleeding in the lower digestive tract include. -Black or tarry stool. -Dark blood mixed with stool. -Stool mixed or coated with bright red blood. GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Intestinal obstruction
MedGen UID:
43933
Concept ID:
C0021843
Disease or Syndrome
An intestinal obstruction occurs when food or stool cannot move through the intestines. The obstruction can be complete or partial. There are many causes. The most common are adhesions, hernias, cancers, and certain medicines. . Symptoms include. -Severe abdominal pain or cramping . -Vomiting . -Bloating . -Loud bowel sounds . -Swelling of the abdomen . -Inability to pass gas . -Constipation. A complete intestinal obstruction is a medical emergency. It often requires surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Desmoid tumors
MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)
Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
The presence of multiple polyps in the intestine.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Abnormality of the abdominal wall
MedGen UID:
867301
Concept ID:
C4021664
Anatomical Abnormality
The presence of any abnormality affecting the abdominal wall.
Muscle pain
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in a muscle or group of muscles.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Sepsis is a life-threatening illness. Your body's response to a bacterial infection usually causes it. Your immune system goes into overdrive, overwhelming normal processes in your blood. The result is that small blood clots form, blocking blood flow to vital organs. This can lead to organ failure. Babies, old people and those with weakened immune systems are most likely to get sepsis. But even healthy people can become deathly ill from it. A quick diagnosis can be crucial, because one third of people who get sepsis die from it. Sepsis is usually treated in a hospital intensive care unit (ICU). IV antibiotics and fluids may be given to try to knock out the infection and to keep blood pressure from dropping too low. Patients may also need respirators to help them breathe.
Joint pain
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including. -Other heart problems, such as angina. -Panic attacks. -Digestive problems, such as heartburn or esophagus disorders. -Sore muscles. -Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism. -Costochondritis - an inflammation of joints in your chest. Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.
Osteolysis
MedGen UID:
67445
Concept ID:
C0221204
Pathologic Function
Dissolution of bone that particularly involves the removal or loss of calcium.
Decreased joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Malignant Skin Neoplasm
MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. . Anyone can get skin cancer, but it is more common in people who . - Spend a lot of time in the sun or have been sunburned. - Have light-colored skin, hair and eyes. - Have a family member with skin cancer. - Are over age 50. You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.
Epidermoid cysts
MedGen UID:
41829
Concept ID:
C0014511
Anatomical Abnormality
The presence of one or more cysts of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Desmoid disease, hereditary in Orphanet.

Recent clinical studies

Etiology

Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. [Epub ahead of print] PMID: 25878329
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. [Epub ahead of print] PMID: 25264623
Xhaja X, Church J
Colorectal Dis 2013 Dec;15(12):1489-92. doi: 10.1111/codi.12416. PMID: 24020802
Xhaja X, Church J
Colorectal Dis 2013;15(10):1238-42. doi: 10.1111/codi.12334. PMID: 23819848

Diagnosis

Verschoor AJ, Cleton-Jansen AM, Wijers-Koster P, Coffin CM, Lazar AJ, Nout RA, Rubin BP, Gelderblom H, Bovée JV
Am J Surg Pathol 2015 Dec;39(12):1701-7. doi: 10.1097/PAS.0000000000000510. PMID: 26414222
Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. [Epub ahead of print] PMID: 25878329
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801
Desurmont T, Lefèvre JH, Shields C, Colas C, Tiret E, Parc Y
Fam Cancer 2015 Mar;14(1):31-9. doi: 10.1007/s10689-014-9760-1. PMID: 25315103
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. [Epub ahead of print] PMID: 25264623

Therapy

Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. [Epub ahead of print] PMID: 25878329
Desurmont T, Lefèvre JH, Shields C, Colas C, Tiret E, Parc Y
Fam Cancer 2015 Mar;14(1):31-9. doi: 10.1007/s10689-014-9760-1. PMID: 25315103
Xhaja X, Church J
Colorectal Dis 2013 Dec;15(12):1489-92. doi: 10.1111/codi.12416. PMID: 24020802

Prognosis

Verschoor AJ, Cleton-Jansen AM, Wijers-Koster P, Coffin CM, Lazar AJ, Nout RA, Rubin BP, Gelderblom H, Bovée JV
Am J Surg Pathol 2015 Dec;39(12):1701-7. doi: 10.1097/PAS.0000000000000510. PMID: 26414222
Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. [Epub ahead of print] PMID: 25878329
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. [Epub ahead of print] PMID: 25264623
Robanus-Maandag E, Bosch C, Amini-Nik S, Knijnenburg J, Szuhai K, Cervera P, Poon R, Eccles D, Radice P, Giovannini M, Alman BA, Tejpar S, Devilee P, Fodde R
PLoS One 2011;6(9):e24354. Epub 2011 Sep 9 doi: 10.1371/journal.pone.0024354. PMID: 21931686Free PMC Article

Clinical prediction guides

Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. [Epub ahead of print] PMID: 25878329
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. [Epub ahead of print] PMID: 25264623
Casper M, Petek E, Henn W, Niewald M, Schneider G, Zimmer V, Lammert F, Raedle J
QJM 2014 Jul;107(7):521-7. Epub 2014 Feb 18 doi: 10.1093/qjmed/hcu036. [Epub ahead of print] PMID: 24554300
Colombo C, Foo WC, Whiting D, Young ED, Lusby K, Pollock RE, Lazar AJ, Lev D
Histol Histopathol 2012 May;27(5):641-9. PMID: 22419028

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