hereditary nonpolyposis colorectal cancer type 2

Hereditary nonpolyposis colorectal cancer (HNPCC) type 2, also known as Lynch syndrome, is a rare form of inherited disorder that increases the risk of many types of cancer. This condition is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, and other organs.

Key Features:

• Inherited as an autosomal dominant syndrome
• Caused by a mutation in one of four genes of the DNA mismatch repair system
• Confers a markedly increased risk for various types of cancer
• Predisposition to a wide variety of cancers

According to [5], HNPCC is the most common form of hereditary colorectal cancer, and it is inherited as an autosomal dominant syndrome as a result of defective mismatch repair (MMR). This condition is passed from parents to children, making it a genetic disorder.

Increased Risk:

• Colorectal cancer (CRC)
• Cancers of the endometrium
• Ovarian cancer
• Stomach cancer
• Small bowel cancer
• Urinary tract cancer

It's essential to note that Lynch syndrome is a rare condition, and its exact prevalence is not well established. However, it is considered one of the most common hereditary colorectal cancer syndromes.

References:

• [5] Steinke, V. (2013). Hereditary nonpolyposis colorectal cancer (HNPCC) type 2. In Encyclopedia of Cancer (pp. 1-4).
• [9] Apr 15, 2021 — Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types ...
• [8] A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers.

Based on the provided context, here are the signs and symptoms of hereditary nonpolyposis colorectal cancer (HNPCC) type 2:

• Colon polyps: People with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps [13].
• Abdominal pain: A rare form of HNPCC characterized by colon; symptoms include abdominal pain [14].
• Iron deficiency or signs of colonic obstruction: Symptoms can also include iron deficiency or signs of colonic obstruction [14].

It's worth noting that Lynch syndrome is a genetic condition that leads to several types of cancers, especially early colorectal cancer [11]. If you're looking for more information on this topic, I'd be happy to help.

References: [11] - Lynch Syndrome Symptoms [13] - Colon polyps in individuals with Lynch syndrome [14] - A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by ...

Diagnostic Tests for Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Type 2

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a genetic disorder that increases the risk of developing various types of cancer, including colorectal, endometrial, ovarian, and others. Diagnostic tests are essential for identifying individuals with HNPCC and their family members who may be at risk.

Types of Diagnostic Tests

Several diagnostic tests can help identify HNPCC:

• Colonoscopy: A colonoscopy is the preferred method for diagnosing Lynch syndrome (HNPCC). It allows doctors to examine the entire large intestine, colon, and rectum for polyps or cancer.
• Immunohistochemistry (IHC) testing: IHC testing can help identify mutations in the MLH1, MSH2, MSH6, and PMS2 genes, which are commonly associated with HNPCC.
• Microsatellite instability (MSI) testing: MSI testing is often used as a prescreening test to identify individuals who may have HNPCC. It measures the stability of microsatellites in DNA.
• DNA analysis: Genetic testing can confirm the diagnosis of HNPCC and identify presymptomatic individuals among family members.

Specific Tests for HNPCC Type 2

For HNPCC type 2, specific diagnostic tests include:

• MMR gene mutation (and deletion/duplication) testing: This test involves analyzing the MMR genes (MLH1, MSH2, MSH6, and PMS2) to identify mutations or deletions.
• PMS2 gene analysis: The PMS2 gene is often associated with HNPCC type 2. Analyzing this gene can help confirm the diagnosis.

Clinical Resource for HNPCC

The National Center for Advancing Translational Sciences provides a clinical resource for HNPCC, including information on diagnostic tests, genetic testing, and specialist referrals.

Genetic Testing for HNPCC

Genetic testing can confirm the diagnosis of HNPCC and identify presymptomatic individuals among family members. This comprehensive test includes both Sanger sequencing and deletion/duplication analysis by MLPA of the PMS2 gene.

References:

• [3] Lynch syndrome (LS) is an inherited, autosomal dominant disorder characterized by a predisposition to developing colorectal, endometrial, ...
• [4] A colonoscopy is the preferred method for diagnosing Lynch syndrome. It is the best way to detect polyps or cancer and allows your doctor to see the entire ...
• [5] Diagnostic testing involves MMR gene mutation (and deletion/duplication) testing of the proband, usually using a blood sample.
• [6] Apr 15, 2021 — Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer.
• [12] Clinical Molecular Genetics test for Colorectal cancer, hereditary nonpolyposis, type 2 and using Deletion/duplication analysis, Multiplex Ligation-dependent Probe Amplification (MLPA) offered by MedGene.

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a genetic disorder that increases the risk of developing various types of cancer, including colorectal cancer. The drug treatment for HNPCC-related colorectal cancer typically involves surgery and systemic therapies.

Surgery: Surgery is often the primary treatment for colorectal cancer in patients with HNPCC. This may involve removing the tumor and a portion of the intestine (colectomy) or other surgical procedures to remove the cancerous tissue [8].

Systemic Therapies: Systemic therapies, such as chemotherapy and immunotherapy, may be used to treat HNPCC-related colorectal cancer that has spread beyond the colon or rectum. These treatments can help reduce tumor size, manage symptoms, and improve quality of life [5].

• Chemotherapy: Chemotherapy involves using medications to kill cancer cells. For patients with HNPCC-related colorectal cancer, chemotherapy may be used in combination with other treatments, such as targeted therapy and immunotherapy [3].
• Targeted Therapy: Targeted therapy uses medications that specifically target cancer cells, reducing harm to healthy cells. In the case of HNPCC-related colorectal cancer, targeted therapies like celecoxib have been shown to induce regression of adenomas in patients with familial adenomatous polyposis (FAP), a related condition [1].
• Immunotherapy: Immunotherapy uses medications that stimulate the immune system to attack cancer cells. For HNPCC-related colorectal cancer, immunotherapies like checkpoint inhibitors may be used to enhance the body's natural defenses against cancer [4].

It is essential to note that the specific treatment plan for each patient will depend on various factors, including the stage and location of the cancer, overall health, and personal preferences. A healthcare provider can provide personalized guidance and recommendations based on individual circumstances.

References:

[1] Jan 20, 2020 — Randomized controlled trials have shown that NSAIDs (sulindac and celecoxib) induce regression of adenomas in patients with familial adenomatous polyposis (FAP).

[3] by HFA Vasen · 2007 · Cited by 773 — The effect of chemotherapy in patients with MSI‐H or HNPCC tumours has been reported in only a few studies.

[4] Aug 16, 2024 — Colorectal cancer medication includes chemotherapy, targeted therapy, and immunotherapy. Each type may help treat the condition, reduce tumor size, or manage symptoms.

[5] by MB Yurgelun · Cited by 135 — Lynch syndrome is known as one of the

Differential Diagnosis of Hereditary Nonpolyposis Colorectal Cancer Type 2

Hereditary nonpolyposis colorectal cancer (HNPCC) type 2, also known as Lynch syndrome II, is a rare form of inherited colorectal cancer. When considering the differential diagnosis for HNPCC type 2, several conditions should be taken into account.

• Attenuated polyposis: This includes forms of recessive tumor syndromes associated with germline biallelic pathogenic mutations [5].
• MUTYH-associated polyposis (MAP): A hereditary condition that predisposes affected individuals to colorectal cancer, although it is distinct from HNPCC type 2 [7].
• Other forms of hereditary colorectal cancer: Such as familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome (PJS), which can present with similar clinical features.

Key Considerations

When differentiating HNPCC type 2 from other conditions, the following factors should be considered:

• Family history: A strong family history of HNPCC-associated cancers involving first-degree relatives across multiple generations is a hallmark of Lynch syndrome [11].
• Age of onset: Patients with HNPCC type 2 often present with colorectal cancer at an early age, which can aid in differential diagnosis [6].

References

• Steinke V. Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome). In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-.
• Lynch HT. Hereditary nonpolyposis colorectal cancer (Lynch syndrome) and other hereditary cancers. Cancer Genet Cytogenet. 1991;55(2):171–84.
• Hendriks YM, et al. Differential diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC). Eur J Cancer Prev. 2006;15(3):247–53.

Note: The citations provided are based on the search results and may not be an exhaustive list of references for this topic.