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CEBPA Mutation

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  • CEBPA MUTATION

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About

blood sample
Sample

BLOOD

Gender
Gender

Both

users
Age group

7 years & above

Cancer is a disease which involves uncontrolled cell growth and division. Since the entire body comprises cells and tissues, cancer can occur anywhere and spread to other body parts as well.

Leukaemia cancer is a progressive malignant disease in the body’s blood-forming organs, which impacts the bone marrow and lymphatic system. It inhibits the functioning of white blood cells (WBCs) due to the chromosomal mutation in the patient’s genes.

Based on the place of origination, cancer is divided into two types:

  • Acute myeloid leukaemia (AML) occurs in the myeloid cells, which eventually become white blood cells.
  • Acute lymphocytic leukaemia (ALL) includes cancerous growth of specific WBCs like T cells, B cells, and NK cells.

Usually, the WBCs act as a facilitator of the immune system. However, in patients with acute myeloid leukaemia (AML), the dysfunction occurs due to the hyper-production of white blood cells, which can also begin in other blood-forming cells.

With AML, the body accumulates immature white blood cells (blasts) that impair the development of healthy cells. As the count of immature white blood cells increases, the number of red blood cells and platelets drops, causing a breakdown of the immune system.

One of the most precise methods for AML diagnosis is CEBPA mutation detection through cytogenetic analysis. CCAAT Enhancer-Binding Protein Alpha (CEBPA) is a gene that instructs blood cells to function and divide in a controlled manner. Due to the mutation, the CEBPA gene loses its ability to suppress tumours and regulate white blood cell production.

Without CEBPA mutation analysis and timely treatment, AML can spread to vital body parts such as:

  • Liver
  • Spleen
  • Testicles
  • Brain
  • Spinal Cord
  • Lymph nodes

Although AML is a disorder that generally occurs in the elderly, i.e., individuals above 45 years, it can also appear in children. Upon observing the following symptoms, a medical expert may require the patient to opt for CEBPA full gene sequence test:

  • Easy bruising
  • Enlarged lymph nodes
  • Heavy bleeding
  • Constant feeling of fatigue
  • Prolonged fever
  • Frequent nosebleeds
  • Chronic headaches
  • Persistent bone and body ache
  • Bleeding in gums
  • Abdominal swelling
  • Nausea and weakness
  • Weight loss and reduced appetite
  • Frequent grasping and shortness of breath
  • Sweating during sleep

The CEBPA full gene sequence testing through molecular genetics diagnosis is essential to examine the build-up of the mutations in blood cells. Moreover, the diagnostic testing for CEBPA mutations includes extracting chromosomes from the patient’s blood. This test helps find the sub-microscopic alterations in the genetic structure. Any change or mutation in the CEBPA gene structure confirms the presence of the blood cancer gene in the patient through a DNA sequencing test.

Apollo 24|7 offers a comprehensive and precise testing facility for CEBPA mutation detection with qualified health professionals across 100+ laboratories.

Upon the CEBPA mutation analysis, the medical professional prescribes treatment as per the subtype concluded, including:

  • Medications like chemotherapy, targeted drug therapy, and immunotherapy.
  • Radiation therapy (In the cases of a stem cell transplant, no response to chemotherapy or area targeting such as brain and testicles spread).
     

faqFrequently Asked Questions (FAQs)

While some people inherit the likelihood of the blood cancer disease from their parents, CEBPA gene mutation is not always inherited. Although there are no exact reasons known for the external causes behind the acquired AML, the medical experts hint at radiation, carcinogenic chemicals, etc.
Due to the mutation in cell regulating genes, leukaemia cells come into existence. These changes affect oncogenes and tumour suppressor genes in the DNA. Further, it causes a malfunction in the blood-forming mechanism. WBCs and bone-marrow cells start growing excessively because of the absence of a regulating protein, thus forming AML cells.
The 5-year survival rate of people aged 20 and beyond after being diagnosed with AML is 27%. However, the life expectancy rate of patients younger than 20 years is 69%. The chances of survival depend on various factors, such as existing illnesses, biological aspects, etc.
The most common treatment of cancer after AML diagnosis includes:  Intensive chemotherapy  Induction therapy Post-remission consolidation Maintenance chemotherapy Targeted therapy Acute promyelocytic leukaemia treatment X-rays or radiation therapy Immunotherapy
Leukaemia is a type of cancer that affects the blood-forming genes of the body. However, there is no direct cure available for the disorder. Recovery is possible through timely AML diagnosis and adequate post-therapy care. The treatment and prognosis depend on the patient’s age and stage of cancer.
CEBPA mutation is a gene alteration that causes changes in CCAAT enhancer-binding protein alpha. Since this protein enables cell expression, any dysfunctioning affects the ability of the blood-forming cells to regulate the division and growth of WBCs, leading to AML cancer.

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The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results