hereditary diffuse gastric cancer

Hereditary Diffuse Gastric Cancer (HDGC) is a rare and inherited form of stomach cancer that affects individuals with a mutated gene, typically the CDH1 or CTNNA1 genes [5]. This condition greatly increases the risk of developing a specific type of stomach cancer, known as diffuse-type gastric cancer (DGC), which is highly invasive and aggressive [4].

HDGC is an autosomal dominant syndrome, meaning that if one parent has the mutated gene, each child has a 50% chance of inheriting it. The penetrance of HDGC can be up to 80%, affecting diverse geographic populations [7]. This means that individuals with the mutated gene have a high likelihood of developing stomach cancer.

In addition to an increased risk of stomach cancer, individuals with HDGC also have a higher risk of breast cancer [8]. The Hereditary Diffuse Gastric Cancer Syndrome Program provides evaluation and genetic testing for individuals suspected to have this condition, along with in-depth discussion of the associated cancer risks [6].

HDGC is characterized by its diffuse-type gastric cancer, which grows in the stomach and can be highly invasive. This type of cancer is different from other forms of stomach cancer, such as intestinal-type gastric cancer, which has a more localized growth pattern.

Overall, HDGC is a rare but serious condition that requires prompt medical attention if suspected. Early detection and genetic testing can help identify individuals at high risk for this condition, allowing for proactive measures to be taken to prevent or detect the associated cancers.

Hereditary diffuse gastric cancer (HDGC) is a rare and aggressive form of stomach cancer that can be challenging to detect in its early stages. While there are no specific symptoms that are unique to HDGC, the following signs and symptoms may indicate the presence of this condition:

• Stomach pain: A dull or sharp pain in the upper abdomen, which can radiate to the back [1].
• Nausea and vomiting: Feeling queasy or experiencing vomiting, especially after eating [2].
• Loss of appetite: A decrease in hunger or interest in food, leading to weight loss [2].
• Weight loss: Unintentional weight loss due to a decrease in appetite or difficulty digesting food [3].

It's essential to note that these symptoms can be non-specific and may resemble those of other conditions. As HDGC often presents late, with cancer cells having spread throughout the stomach, it can be challenging to diagnose this condition based on symptoms alone.

A biopsy is typically required to confirm a diagnosis of HDGC. During this procedure, a sample of tissue from the stomach lining is examined for cancerous cells [2].

Early detection and treatment are crucial in improving outcomes for individuals with HDGC. If you or someone you know is experiencing these symptoms, it's essential to consult a healthcare professional for proper evaluation and care.

References:

[1] - Context result 3 [2] - Context results 2 and 4 [3] - Context result 8

Hereditary Diffuse Gastric Cancer (HDGC) can be diagnosed through various tests, including genetic testing and imaging scans.

Genetic Testing

The primary diagnostic test for HDGC is genetic testing for the CDH1 gene. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the CDH1 gene associated with hereditary diffuse gastric cancer [3]. The test is recommended for individuals who fulfill criteria for HDGC, such as a family history of the disease or personal history of stomach cancer at a young age [7].

Imaging Scans

If symptoms of HDGC are present, imaging scans such as ultrasound, CT, and PET can be used to locate the tumor and assess its extent [6]. These scans can help identify the presence of gastric cancer and guide further treatment decisions.

Other Diagnostic Tests

In addition to genetic testing and imaging scans, other diagnostic tests may be recommended for individuals with suspected HDGC. These include:

• Upper endoscopy with biopsies: This test is used to examine the inside of the stomach and detect any abnormalities [1].
• Validation of cancer diagnoses and histologies: It is essential to validate cancer diagnoses and histologies in the proband and/or family members using appropriate medical records [2].

Recommendations

The management options for mutation carriers include prophylactic gastrectomy or surveillance gastroscopy. The only extensive published surveillance experience is with annual upper endoscopy with biopsies [5].

References:

[1] Context 1 [3] Context 3 [5] Context 5 [6] Context 6 [7] Context 7

Hereditary diffuse gastric cancer (HDGC) is a rare and aggressive form of stomach cancer that runs in families. While there are no specific drug treatments for HDGC, researchers have been exploring various options to manage the condition.

Current Research on Drug Treatments

According to recent studies [10], researchers are aiming to develop or identify drugs that can be used to eliminate early cancers in the stomachs of CDH1 mutation carriers. This is a promising area of research, but more studies are needed to determine the effectiveness and safety of these potential treatments.

HDAC Inhibitors

Previous studies had identified HDAC inhibitors as potential chemoprevention compounds for hereditary diffuse gastric cancer (HDGC) [3]. However, further research is required to confirm their efficacy in preventing stomach cancer.

Other Treatment Options

While drug treatment options are limited, other treatment approaches may be considered on a case-by-case basis. For example, prophylactic gastrectomy (surgical removal of the stomach) remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers [9].

Current Recommendations

The current recommendation for individuals with HDGC is to undergo regular endoscopic assessments and consider prophylactic gastrectomy if they have a high-risk genetic mutation [8]. However, this approach may not be suitable or preferred by all individuals.

References:

[3] Our earlier studies had identified HDAC inhibitors as potential chemoprevention compounds for hereditary diffuse gastric cancer (HDGC) [1].

[9] Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, ...

[10] We are aiming to develop or identify drugs which can be used to eliminate early cancers in the stomachs of CDH1 mutation carriers.

Hereditary diffuse gastric cancer (HDGC) is a rare genetic disorder characterized by an increased risk of developing diffuse gastric cancer and lobular breast cancer. When considering the differential diagnosis for HDGC, several conditions should be taken into account.

• Acute Gastritis: This condition involves inflammation of the stomach lining, which can cause symptoms such as abdominal pain, nausea, and vomiting. However, it is not directly related to HDGC.
• Atrophic Gastritis: This condition involves chronic inflammation of the stomach lining, leading to thinning of the mucosa. While it may share some similarities with HDGC, it is a distinct entity.
• Bacterial Gastroenteritis: This condition involves infection of the stomach and intestines by bacteria, such as Salmonella or E. coli. It is not directly related to HDGC.
• Chronic Gastritis: This condition involves long-term inflammation of the stomach lining, which can lead to symptoms such as abdominal pain and nausea. While it may share some similarities with HDGC, it is a distinct entity.
• Esophageal Cancer: This type of cancer affects the esophagus and can be distinguished from HDGC based on its distinct histopathological features.

It's worth noting that the diagnosis of HDGC can only be made by genetic testing, which involves analyzing the CDH1 gene for mutations. However, the diagnosis of diffuse GC in a clinically affected person can be challenging and requires careful consideration of all relevant factors [10].

In addition to these conditions, other differential diagnoses for HDGC may include metastatic lobular carcinoma, which is a type of breast cancer that has spread to other parts of the body [9]. A thorough evaluation by a qualified healthcare professional is necessary to determine the correct diagnosis and develop an appropriate treatment plan.

References: [6] Nov 2, 2024 — Differential Diagnoses. Acute Gastritis · Atrophic Gastritis · Bacterial Gastroenteritis · Chronic Gastritis · Esophageal Cancer. [9] May 26, 2021 — ... hereditary diffuse gastric cancer, which is associated with a germline mutation in CDH1. Differential diagnosis. Metastatic lobular carcinoma ... [10] by C Oliveira · 2013 · Cited by 28 — The diagnosis of HDGC can only be made by genetic testing. However, the diagnosis of diffuse GC in a clinically affected person can be ...