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Rectal Neoplasm

Disease Details

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Description: Rectal neoplasm refers to abnormal growths or tumors in the rectal area, which can be benign or malignant and may affect bowel function.
Type: Rectal neoplasm is a type of cancer that occurs in the rectum. Genetic transmission of rectal neoplasm can be influenced by inherited genetic mutations. Some of these inherited conditions include Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer) and Familial Adenomatous Polyposis (FAP), which significantly increase the risk of developing colorectal cancers, including rectal neoplasm. These conditions follow an autosomal dominant pattern of inheritance.
Signs And Symptoms: The signs and symptoms of colorectal cancer depend on the location of the tumor in the bowel, and whether it has spread elsewhere in the body (metastasis). The classic warning signs include: worsening constipation, blood in the stool, decrease in stool caliber (thickness), loss of appetite, loss of weight, and nausea or vomiting in someone over 50 years old. Around 50% of people who have colorectal cancer do not report any symptoms.Rectal bleeding or anemia are high-risk symptoms in people over the age of 50. Weight loss and changes in a person's bowel habit are typically only concerning if they are associated with rectal bleeding.
Prognosis: Fewer than 600 genes are linked to outcomes in colorectal cancer. These include both unfavorable genes, where high expression is related to poor outcome, for example the heat shock 70 kDa protein 1 (HSPA1A), and favorable genes where high expression is associated with better survival, for example the putative RNA-binding protein 3 (RBM3). The prognosis is also correlated with a poor fidelity of the pre-mRNA splicing apparatus, and thus a high number of deviating alternative splicing.
Onset: Rectal neoplasms, or rectal cancers, typically develop gradually over several years. They often arise from pre-existing benign adenomatous polyps that undergo malignant transformation. The exact onset is difficult to pinpoint because early stages usually do not cause symptoms. Regular screenings, such as colonoscopy, are crucial for early detection, especially in individuals aged 50 and older or those with a family history of colorectal cancer.
Prevalence: The prevalence of rectal neoplasms, including rectal cancer, varies geographically and depends on factors such as age and risk factors. In the United States, rectal cancer represents about one-third of all colorectal cancer cases. Colorectal cancer as a whole is the third most common diagnosed cancer in both men and women.
Epidemiology: Globally more than 1 million people get colorectal cancer every year resulting in about 715,000 deaths as of 2010 up from 490,000 in 1990.As of 2012, it is the second most common cause of cancer in women (9.2% of diagnoses) and the third most common in men (10.0%): 16 with it being the fourth most common cause of cancer death after lung, stomach, and liver cancer. It is more common in developed than developing countries. Global incidence varies 10-fold, with highest rates in Australia, New Zealand, Europe and the US and lowest rates in Africa and South-Central Asia.
Intractability: Rectal neoplasm, commonly referred to as rectal cancer, is not inherently intractable. Its treatability depends on various factors such as the stage at diagnosis, the patient's overall health, and the treatment approach. Early-stage rectal cancer is often treatable and potentially curable with a combination of surgery, radiation, and chemotherapy. However, advanced stages may be more challenging to treat and could potentially become intractable. The prognosis improves significantly with early detection and appropriate medical intervention.
Disease Severity: Rectal neoplasm, commonly referred to as rectal cancer, can vary in severity depending on several factors:

1. **Stage at Diagnosis**:
- **Early-stage**: Limited to the rectal lining or muscle wall (Stage I or II).
- **Intermediate-stage**: Spread to nearby lymph nodes but not distant sites (Stage III).
- **Advanced-stage**: Metastasized to distant organs such as the liver or lungs (Stage IV).

2. **Tumor Characteristics**:
- **Size and Location**: Larger or more obstructive tumors can cause more serious symptoms.
- **Histological Grade**: High-grade tumors tend to be more aggressive.

3. **Patient Factors**:
- Age, overall health, and presence of comorbidities can impact overall disease severity.

Severity progression can significantly affect prognosis and treatment strategy. Early detection generally leads to better outcomes.
Healthcare Professionals: Disease Ontology ID - DOID:1984
Pathophysiology: Rectal neoplasm, commonly referred to as rectal cancer, involves the abnormal growth of cells in the rectum. The pathophysiology is marked by the following key points:

1. **Genetic Mutations:** Mutations in oncogenes and tumor suppressor genes lead to unregulated cell growth. Common genetic mutations include alterations in the APC gene, KRAS gene, and the p53 tumor suppressor gene.

2. **Adenomatous Polyps:** Most rectal cancers develop from adenomatous polyps, which are benign growths that can become cancerous over time if not removed.

3. **Dysplasia:** As polyps grow, they can progress from low-grade dysplasia (slightly abnormal cells) to high-grade dysplasia (more abnormal and precancerous) before becoming invasive cancer.

4. **Invasion and Metastasis:** The cancerous cells can invade the muscular layers of the rectum and may spread to nearby lymph nodes and distant organs (metastasis), commonly affecting the liver and lungs.

5. **Microenvironment:** The local microenvironment, including the presence of inflammation and immune cell response, also plays a critical role in the progression and spread of rectal neoplasms.

Understanding these mechanisms helps in the diagnosis, prevention, and treatment of rectal cancer.
Carrier Status: Rectal neoplasm, also known as rectal cancer, does not have a carrier status because it is not a condition caused by a single gene that can be carried in a recessive or dominant manner. Instead, it is typically the result of multiple genetic mutations and environmental factors. Carriers are more commonly associated with single-gene disorders, such as cystic fibrosis or sickle cell anemia.
Mechanism: **Mechanism:**
Rectal neoplasm, commonly referred to as rectal cancer, usually originates from the epithelial cells lining the rectum. The development of rectal neoplasms often begins with benign adenomatous polyps that gradually transform into malignant tumors through a series of genetic and epigenetic alterations.

**Molecular Mechanisms:**
1. **Genetic Mutations:**
- **APC Gene Mutations:** Inactivation of the APC (Adenomatous Polyposis Coli) gene is a critical early event. APC mutations lead to the accumulation of β-catenin, which activates oncogenic signaling pathways.
- **KRAS Mutations:** Mutations in the KRAS gene result in the continuous activation of the RAS/MAPK pathway, promoting cell proliferation and survival.
- **TP53 Mutations:** Alterations in the TP53 gene, which encodes the tumor suppressor protein p53, lead to loss of cell cycle control and apoptosis.

2. **Microsatellite Instability (MSI):**
- MSI is characterized by defects in the DNA mismatch repair (MMR) system, leading to increased mutation rates throughout the genome. This can result from mutations in MMR genes like MLH1, MSH2, MSH6, and PMS2.

3. **Epigenetic Changes:**
- **DNA Methylation:** Hypermethylation of promoter regions in tumor suppressor genes can lead to gene silencing. For example, hypermethylation of the MLH1 promoter is commonly seen in rectal tumors with MSI.
- **Histone Modifications:** Changes in histone acetylation and methylation can also affect chromatin structure and gene expression, contributing to neoplastic transformation.

4. **Signaling Pathways:**
- **Wnt/β-Catenin Pathway:** Activation of this pathway through APC mutations or other mechanisms drives the transcription of target genes that promote proliferation and survival.
- **PI3K/AKT Pathway:** Activation of this pathway through mutations or amplifications can lead to increased cell growth and resistance to apoptosis.

Understanding these molecular mechanisms is crucial for the development of targeted therapies and personalized treatment strategies for rectal cancer.
Treatment: The treatment of colorectal cancer can be aimed at cure or palliation. The decision on which aim to adopt depends on various factors, including the person's health and preferences, as well as the stage of the tumor. Assessment in multidisciplinary teams is a critical part of determining whether the patient is suitable for surgery or not. When colorectal cancer is caught early, surgery can be curative. However, when it is detected at later stages (for which metastases are present), this is less likely and treatment is often directed at palliation, to relieve symptoms caused by the tumour and keep the person as comfortable as possible.
Compassionate Use Treatment: Compassionate use treatments and off-label or experimental treatments for rectal neoplasm can include:

1. **Compassionate Use Treatments**:
- Involves accessing investigational drugs or treatments outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
- These treatments are typically used for patients with serious conditions who have exhausted other treatment options.

2. **Off-label Treatments**:
- **Bevacizumab**: Although primarily indicated for metastatic colorectal cancer, it may be used off-label for rectal neoplasms.
- **Cetuximab and Panitumumab**: These epidermal growth factor receptor (EGFR) inhibitors may be used off-label for rectal cancer, especially in metastatic cases.

3. **Experimental Treatments**:
- **Immunotherapy**: Agents like Pembrolizumab and Nivolumab are being researched for their effectiveness in treating rectal neoplasms.
- **Targeted Therapy**: New targeted agents in clinical trials aim at specific molecular abnormalities in rectal cancer.
- **Gene Therapy**: Experimental studies are investigating ways to manipulate genes to treat or prevent rectal cancer.
- **Adoptive Cell Transfer**: This involves using modified immune cells to target and kill cancer cells.

These treatments are typically investigated in clinical trials and should be discussed with healthcare providers to understand the potential risks and benefits.
Lifestyle Recommendations: For rectal neoplasm, or rectal cancer, lifestyle recommendations to reduce risk or support treatment may include:

1. **Diet:**
- Increase fiber intake through fruits, vegetables, and whole grains.
- Limit red and processed meats.
- Reduce intake of refined sugars and fats.

2. **Physical Activity:**
- Engage in regular physical activity, such as walking, cycling, or swimming, aiming for at least 150 minutes of moderate exercise per week.

3. **Weight Management:**
- Maintain a healthy weight through balanced diet and exercise to reduce cancer risk.

4. **Smoking Cessation:**
- Avoid smoking and seek help to quit if you currently smoke, as smoking can increase cancer risk.

5. **Alcohol Consumption:**
- Limit alcohol intake to moderate levels, which is up to one drink per day for women and up to two drinks per day for men.

6. **Screening and Regular Check-ups:**
- Follow guidelines for colorectal cancer screening, especially if you are over 50 or have a family history of colorectal cancer.

7. **Hydration:**
- Stay well-hydrated by drinking plenty of water throughout the day.

8. **Stress Management:**
- Practice stress-reducing techniques such as meditation, yoga, or deep-breathing exercises.

9. **Avoid Prolonged Sitting:**
- Take breaks to stand and move around if you have a sedentary job or lifestyle.

These recommendations can help in reducing the risk of developing rectal neoplasms and support overall health. Always consult with a healthcare provider for personalized advice.
Medication: The primary treatment for rectal neoplasm (rectal cancer) typically includes surgery, radiation therapy, and chemotherapy. The choice of treatment depends on the stage and specific characteristics of the cancer. Common chemotherapeutic agents used include:

1. **Fluorouracil (5-FU)** - Often used in combination with radiation therapy.
2. **Capecitabine** - An oral prodrug of 5-FU.
3. **Oxaliplatin** - Commonly combined with 5-FU and leucovorin in regimens like FOLFOX.
4. **Irinotecan** - Sometimes used in combination with 5-FU and leucovorin (FOLFIRI).
5. **Leucovorin** - Enhances the effectiveness of 5-FU.

Biologic agents like **bevacizumab (Avastin)**, **cetuximab (Erbitux)**, and **panitumumab (Vectibix)** may also be used, particularly in advanced stages.

For detailed and personalized treatment, consulting with a medical professional is essential.
Repurposable Drugs: There are currently limited established repurposable drugs for rectal neoplasm (colorectal cancer affecting the rectum). However, some drugs initially developed for other conditions have shown potential in research studies for treating rectal neoplasm. These include:

1. **Metformin**: Commonly used for type 2 diabetes, metformin has been studied for its potential anticancer effects due to its ability to inhibit the mTOR pathway and reduce insulin levels, which can affect tumor growth.

2. **Aspirin**: Known for its anti-inflammatory properties, aspirin has shown promise in reducing the risk of colorectal cancer recurrence, possibly through its ability to inhibit COX enzymes and reduce inflammation.

3. **Statins**: Used primarily for lowering cholesterol, statins have shown some potential in reducing colorectal cancer incidence, likely due to their effects on cell proliferation and apoptosis.

Further clinical trials and research are needed to confirm the efficacy and safety of these repurposable drugs specifically for rectal neoplasm. Always consult with a healthcare provider before considering any off-label drug use.
Metabolites: Rectal neoplasms, commonly referred to as rectal cancer, often exhibit changes in specific metabolites. These metabolic alterations can be detected through advanced techniques such as metabolomics. Commonly affected metabolites in rectal neoplasms include:

1. **Amino acids:** Glutamine, glycine, and alanine levels may be altered.
2. **Lipids:** Variations in fatty acids and phospholipids may occur.
3. **Carbohydrates:** Changes in glucose and lactate levels are often observed.
4. **Nucleotides:** Alterations in ATP, ADP, and their related compounds can be seen.
5. **Organic acids:** Elevated levels of metabolites like succinate and fumarate might be present due to altered cellular respiration.

These changes reflect the metabolic reprogramming that cancer cells undergo to support rapid proliferation and survival.
Nutraceuticals: Nutraceuticals refer to food-derived products that offer health benefits, including the prevention and treatment of disease. For rectal neoplasm (rectal cancer), research on the use of nutraceuticals is still ongoing. However, some promising candidates include:

1. **Curcumin**: Found in turmeric, curcumin has anti-inflammatory and anti-cancer properties.
2. **Resveratrol**: Found in red grapes and berries, resveratrol can inhibit cancer cell growth and induce apoptosis.
3. **Omega-3 Fatty Acids**: Commonly found in fish oil, these have anti-inflammatory effects and may reduce cancer risk.
4. **Green Tea Polyphenols**: These possess antioxidant properties and can inhibit tumor growth.

While these nutraceuticals show potential, further clinical trials are necessary to establish their efficacy and safety in treating or preventing rectal neoplasms.
Peptides: For rectal neoplasm, peptides are being studied for their potential roles in targeted cancer therapies. Peptide-based approaches may involve using peptides as therapeutic agents, vaccine components, or in targeted drug delivery systems to improve treatment specificity and efficacy. This research is ongoing and aims to develop more precise treatments with fewer side effects compared to traditional therapies.