About brain tumor - polyposis syndrome

What is brain tumor - polyposis syndrome?

Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. Affected individuals may also experience neurological symptoms, depending upon the type, size and location of the associated brain tumor. Some researchers believe that Turcot syndrome is a variant of familial adenomatous polyposis. Others believe that it is a separate disorder. The exact cause of Turcot syndrome is not known.

What are the symptoms for brain tumor - polyposis syndrome?

Brain tumor-polyposis syndrome is characterized by the formation of multiple polyps in the colon along with the primary brain tumor. It is a rare disorder that causes small growths (polyps) in the gastrointestinal tract and brain tumors. Though the exact cause of this syndrome is not known, in most cases it is seen to be caused by a gene mutation. Genes are made of DNA and sometimes the gene changes due to issues with the DNA mutation.

In polyposis syndrome of brain tumor, the formation of the polyps may vary from person to person. It can range from 10 to more than 100 polyps in association with the brain tumor. Some researchers have separated this syndrome into two types depending on the number of polyps forming in the brain as-
Type 1: In this type, the number of colonic polyps is less than 100. Here the polyps are larger in size and have a greater risk of becoming cancerous.
Type 2: Here the polyps are smaller in size and the number of polyps is also more.

The symptoms of brain tumor-polyposis syndrome are-
1. Bleeding from the rectum
2. Diarrhea
3. Constipation
4. Abdominal pain
5. Depending on the size, type, and location of the brain tumor and the polyps, patients may have neurological problems too.
6. A patient might develop a cancerous tumor outside the colon, in the thyroid, adrenal, and abdomen.
7. Formation of small coffee-colored spots on the skin.
8. Some patients may undergo problems with eyesight.

Symptoms
Diarrhea,Constipation,Abdominal pain,Neurological problems,Cancerous tumor outside the colon,Skin problems,Problems with eyesight, etc
Conditions
Benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system
Drugs
Afinitor (Everolimus),Afinitor Disperz (Everolimus),Avastin (Bevacizumab),Belzutifan,Lomustine,Zirabev (Bevacizumab)

What are the treatments for brain tumor - polyposis syndrome?

Brain tumor-polyposis syndrome (BTPS) is a condition caused by a genetic predisposition in which the patient suffers from two comorbidities- brain tumor and the formation of polyps in the gastrointestinal tract. It is also called Turcot Syndrome. The condition is classified into Type I and Type II based on its clinical manifestation, manner of inheritance, and type of mutation in underlying genes.

Treatment for BTPS
Being an illness caused by a genetic abnormality, there is no cure yet for brain tumor-polyposis syndrome. All treatments are aimed at medically managing the patient’s conditions. For that, it is important to consider whether the ailment is a type I or a type II category. Medical care often starts with an early diagnosis and follows up with an accurate prognosis. Some treatment procedures include:
1. Surgical Resection of Tumor: The basic medical procedure to prevent the development of a tumor into a malignant one is its surgical removal. This option always depends upon the location and type of the tumor as well as the patient’s age and physical condition.
2. Colorectal Surgery: The polyps formed in the intestinal tract may be harmless in the beginning. To prevent them from turning cancerous, colectomy, i.e., complete removal of the affected portion of the large intestine, is the option.
3. Chemotherapy & Radiation: In Turcot syndrome patients, chemotherapy and radiation are needed for treating cancer.
4. More important, awareness of the patient and family regarding the general nature of the ailment is required. Children of a person identified with BTPS have a very high chance of inheriting the disease.
5. DNA testing can confirm the presence of mutated genes causing the condition. Those individuals should be closely monitored from childhood for brain tumor-polyposis syndrome to avoid the risk of late diagnosis.

Symptoms
Diarrhea,Constipation,Abdominal pain,Neurological problems,Cancerous tumor outside the colon,Skin problems,Problems with eyesight, etc
Conditions
An inherited genetic disorder,Primary brain tumor with polyps in gastrointestinal tract,Glioblastoma,Medulloblastoma,Gastrointestinal polyps
Drugs
Afinitor (Everolimus),Afinitor Disperz (Everolimus),Avastin (Bevacizumab),Belzutifan,Lomustine,Zirabev (Bevacizumab)

What are the risk factors for brain tumor - polyposis syndrome?

Brain tumor-polyposis syndrome is a medical condition caused by a genetic abnormality. The main risk for BTPS patients is that they are more susceptible to developing cancers than the general population. The existence of two major comorbidities- brain or spine tumors and growths in the gastrointestinal tract is a high-risk health condition. Even if the symptoms are harmless, to begin with, the ailment triggers multiple health issues for the patients.

Risk Factors:
1. Basal Cell Carcinoma: BTPS patients may sometimes develop basal cell carcinoma, a type of skin cancer. It appears as white and waxy lumps or brown and scaly patches on areas exposed to the sun.
2. Colorectal Cancer: Studies have shown that Brain tumor-polyposis patients suffering from Familial Adenomatous Polyposis (FAP) will develop colorectal cancer by 35-40 years of age.
3. High risk of developing tumors in other organs: BTPS patients sometimes develop cancerous tumors in the thyroid, kidney, abdomen, ependymal cells, etc.
4. Neurological Ailments: BTPS often causes neurological abnormalities, such as balancing problems, auditory issues, sensory and motor deficiencies, spinal cord compression, etc. Some patients may also experience seizures and partial body weaknesses.
5. Skin problems: One of the symptoms of brain tumor-polyposis syndrome is café-au-lait spots- small brown spots on the skin. Another skin condition caused by BTPS is fatty growths on the skin, which are often benign.
6. Risk of genetic transmission: One major risk of this syndrome is the high probability of genetic transmission to the next generation. If any of the parents are diagnosed with BTPS, the children carry a high risk of inheriting the gene abnormality causing the disease.
7. Decreased life expectancy: Brain tumor-polyposis syndrome could become a life-threatening health condition if it is not properly managed. There is no cure for the condition as the cause is a genetic predisposition. Early diagnosis and timely clinical intervention for preventing further damage are the only effective solutions available.

Symptoms
Diarrhea,Constipation,Abdominal pain,Neurological problems,Cancerous tumor outside the colon,Skin problems,Problems with eyesight, etc
Conditions
Benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system
Drugs
Afinitor (Everolimus),Afinitor Disperz (Everolimus),Avastin (Bevacizumab),Belzutifan,Lomustine,Zirabev (Bevacizumab)

Is there a cure/medications for brain tumor - polyposis syndrome?

As the name suggest, brain tumor-polyposis syndrome is a form of cancer growth in the brain. What is distinct about BTP syndrome is that it is a rare hereditary disorder classified clinically by the appearance of multiple colorectal adenomas and primary tumors in the brain.

The symptoms of the same can be segregated into clinical phenotype and modes of inheritance along with underlying mutations of genes.

Cure/medications for Brain Tumor- Polyposis Syndrome

1. Chemotherapy
Gliadel wafers are installed in the area from where the tumor was extracted at the time of surgery. It’s a measure to prepare the patient to be put on the drug carmustine (BiCNU)

Low dosage of temozolomide (Temodar) for people experiencing glioblastoma and severe glioma.

A combination of three drugs --Lomustine (Gleostine), Procarbazine (Matulane) and Vincristine (Vincasar) is used in radiation therapy.

The kinds of treatments for Brain Tumor- Polyposis Syndrome are listed below:

2. Surgery
Radiation Therapy (Conventional radiation therapy, 3D conformal radiation therapy, Intensity modulated radiation therapy, Proton therapy, Stereotactic radiosurgery, Fractionated stereotactic radiation therapy)

Symptoms
Diarrhea,Constipation,Abdominal pain,Neurological problems,Cancerous tumor outside the colon,Skin problems,Problems with eyesight, etc
Conditions
Benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system
Drugs
Afinitor (Everolimus),Afinitor Disperz (Everolimus),Avastin (Bevacizumab),Belzutifan,Lomustine,Zirabev (Bevacizumab)

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