Myelodysplastic Syndromes Associated with Isolated 5q Deletion

Myelodysplastic Syndromes Associated with Isolated 5q Deletion

Article
Diseases & Conditions
Cancer & Benign Tumors
+1
Contributed byMaulik P. Purohit MD MPHDec 01, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • 5q-Mosonomy
  • 5q-Syndrome
  • MDS Associated with Del (5q)

What is Myelodysplastic Syndromes Associated with Isolated 5q Deletion? (Definition/Background Information)

  • Myelodysplastic Syndromes (MDS) are a group of conditions characterized by the disordered (dysplastic) development of all non-lymphocyte blood cells (called myeloid cells). MDS is caused by various abnormalities of the bone marrow
  • Bone marrow is the spongy tissue found inside the bones. Normally, it is the main site of blood cell production (hematopoiesis). The blood cells include:
    • Red blood cells (erythrocytes), which transport ‘gases’, such as oxygen
    • White blood cells (leukocytes), important to the immune system
    • Megakaryocytes, which fragment to form platelets. Platelets clot blood and recruit collagen-producing cells (fibroblasts) to the scene of an injury
  • These diverse cells develop from myeloid stem cells (blasts) inside the bone marrow. This process is mediated by different signals that steer the growth and division of the blasts, down different pathways (lineages)
  • The different blood cells can thus be considered “cousins” of each other. This is because they share a common ancestral stem cell, though they have diverged down separate lineages
  • The presence of any abnormalities in the blasts, or in their signaling system, may disrupt their development and cause MDS
  • Different forms of Myelodysplastic Syndromes are classified, based on the cause or specific abnormalities produced. One such cause is a missing part (deletion) of the DNA blueprint; specifically, the “q” region of the 5th chromosome (5q). Hence, this condition is known as Myelodysplastic Syndromes Associated with Isolated 5q Deletion
  • The 5q region gives instructions for the proper maturation of blasts inside the bone marrow. MDS Associated with 5q Deletion is characterized by a shortage of functioning blood cells and the presence of abnormal blood cells in blood or bone marrow

Who gets Myelodysplastic Syndromes Associated with Isolated 5q Deletion? (Age and Sex Distribution)

Individuals at risk for Myelodysplastic Syndromes Associated with Isolated 5q Deletion include:

  • Elderly individuals, aged 70 years and above
  • This condition predominantly affects women

MDS Associated with Del (5q) is a rare condition that affects 1 in 100,000 individuals worldwide.

What are the Risk Factors for Myelodysplastic Syndromes Associated with Isolated 5q Deletion? (Predisposing Factors)

Following are factors that increase one’s risk to Myelodysplastic Syndromes Associated with Isolated 5q Deletion:

  • Smoking
  • Exposure to radiation
  • Exposure to certain industrial chemicals
  • Chemotherapy

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Myelodysplastic Syndromes Associated with Isolated 5q Deletion? (Etiology)

  • The cause of Myelodysplastic Syndromes Associated with Isolated 5q Deletion is genetic
  • Specifically, it results from a missing region of DNA, called the 5q arm, of the 5th chromosome (5q). 5q gives instructions, essential to proper blood cell maturation inside the bone marrow. A deletion can result from improper pairing of DNA, during conception
  • Deletions may also occur after exposure to DNA-damaging agents, such as radiation and chemotherapeutic drugs. This is known as therapy-related Myelodysplastic Syndrome (t-MDS); such conditions are more serious

What are the Signs and Symptoms of Myelodysplastic Syndromes Associated with Isolated 5q Deletion?

Indicators for Myelodysplastic Syndromes Associated with Isolated 5q Deletion include:

  • Frequent and persistent infections
  • Easy bruising
  • Persistent bleeding
  • Pale appearance (pallor)
  • Fatigue

How is Myelodysplastic Syndromes Associated with Isolated 5q Deletion Diagnosed?

Following are diagnostic techniques that aid in identification of Myelodysplastic Syndromes Associated with Isolated 5q Deletion:

  • Physical examination and evaluation of medical history
  • Blood smear tests to detect:
    • Low counts of red blood cells (anemia)
    • Abnormally-shaped cells
    • Cellular fragments
  • Bone marrow biopsy to detect abnormal distribution of cells
  • Genetic studies to detect a 5q deletion

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Myelodysplastic Syndromes Associated with Isolated 5q Deletion?

Following are complications that may arise from Myelodysplastic Syndromes Associated with Isolated 5q Deletion:

  • Transformation of the condition to acute myeloid leukemia (AML), which has been known to occur in 6% of cases
  • Excessive bleeding, especially during surgery
  • Severe infections

How is Myelodysplastic Syndromes Associated with Isolated 5q Deletion Treated?

Treatments for Myelodysplastic Syndromes Associated with Isolated 5q Deletion include:

  • The use of immunosuppressive drugs to prevent progression to leukemia, such as:
    • Antithymocyte globulin
    • Cyclosporine
  • Targeted molecular therapy drugs, such as:
    • Lenalidomide
    • Farnesyltransferase inhibitors
  • Drugs to stimulate hematopoiesis (blood cell production), such as:
    • DNA methylase inhibitors
    • Thalidomide-like drugs
  • Bone marrow transplant may be performed in younger patients

How can Myelodysplastic Syndromes Associated with Isolated 5q Deletion be Prevented?

Myelodysplastic Syndromes Associated with Isolated 5q Deletion may be avoided by:

  • Limiting (exposure to) the following factors:
    • Radiation
    • Industrial chemicals
    • Chemotherapy
  • Quitting smoking

What is the Prognosis of Myelodysplastic Syndromes Associated with Isolated 5q Deletion? (Outcomes/Resolutions)

  • Myelodysplastic Syndromes Associated with Isolated 5q Deletion is considered a low-risk form of MDS. Generally, the prognosis is better than other types of MDS
  • Proper care should be taken to treat and control complications from MDS. Often, the problems associated with infection, bleeding, and progression to leukemia, are the most dangerous aspects of the disease

Additional and Relevant Useful Information for Myelodysplastic Syndromes Associated with Isolated 5q Deletion:

Myelodysplastic Syndrome (MDS) was originally thought to be an early form of leukemia. It was even called “smoldering leukemia.” It is now known that MDS does not always progress to leukemia, so this term is outdated. Nevertheless, MDS is considered to be a cancerous condition.

Was this article helpful

On the Article

Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

0 Comments

Please log in to post a comment.

Related Articles

Test Your Knowledge

Asked by users

Related Centers

Loading

Related Specialties

Loading card

Related Physicians

Related Procedures

Related Resources

Join DoveHubs

and connect with fellow professionals

Related Directories

Who we are

At DoveMed, our utmost priority is your well-being. We are an online medical resource dedicated to providing you with accurate and up-to-date information on a wide range of medical topics. But we're more than just an information hub - we genuinely care about your health journey. That's why we offer a variety of products tailored for both healthcare consumers and professionals, because we believe in empowering everyone involved in the care process.
Our mission is to create a user-friendly healthcare technology portal that helps you make better decisions about your overall health and well-being. We understand that navigating the complexities of healthcare can be overwhelming, so we strive to be a reliable and compassionate companion on your path to wellness.
As an impartial and trusted online resource, we connect healthcare seekers, physicians, and hospitals in a marketplace that promotes a higher quality, easy-to-use healthcare experience. You can trust that our content is unbiased and impartial, as it is trusted by physicians, researchers, and university professors around the globe. Importantly, we are not influenced or owned by any pharmaceutical, medical, or media companies. At DoveMed, we are a group of passionate individuals who deeply care about improving health and wellness for people everywhere. Your well-being is at the heart of everything we do.

© 2023 DoveMed. All rights reserved. It is not the intention of DoveMed to provide specific medical advice. DoveMed urges its users to consult a qualified healthcare professional for diagnosis and answers to their personal medical questions. Always call 911 (or your local emergency number) if you have a medical emergency!