Understanding High-Risk and Very-High-Risk MDS

What’s the Difference Between High-Risk and Very-High-Risk MDS?

High-risk MDS and very high-risk MDS are classifications used to describe the severity and prognosis of the disease. These classifications are based on the percentage of abnormal cells in the bone marrow, the type of genetic mutations present, and how many types of blood cells are affected.

Both high-risk and very high-risk MDS require close monitoring and may require aggressive treatment options, such as chemotherapy, bone marrow transplantation, or other targeted therapies, depending on the patient's overall health and individual disease characteristics. 

What Are the Specific Characteristics of High-Risk and Very High-Risk MDS? 

High-risk MDS refers to a high percentage of abnormal cells in the bone marrow (usually 20% or more) and/or distinctive genetic abnormalities. High-risk MDS is generally associated with a poor prognosis and a higher probability of progressing to acute myeloid leukemia (AML), a more aggressive form of blood cancer.

Very high-risk MDS is a more severe form of the disease characterized by a higher percentage of abnormal cells in the bone marrow (usually 30% or more) and/or multiple cytogenetic abnormalities. Very high-risk MDS is associated with a higher likelihood of disease progression to AML and a poorer prognosis compared to high-risk MDS.

How Do Specialists Determine the Type of MDS a Person Has?

There are many different types of MDS. Specialists typically evaluate the bone marrow and the blood cells to determine which type of MDS a person has.

Physicians also use a scoring system called the Revised International Prognostic Scoring System (IPSS-R) to place MDS patients into 1of 5 different risk groups. The 5 risk groups include “very low risk,” “low risk,” “intermediate risk,” “high risk,” and “very high risk.”

Why Should I Know My MDS Risk Status? 

MDS specialists and patient advocates emphasize the importance of MDS patients learning their risk category. Those who are in the higher-risk categories (“intermediate risk,” “high risk,” and “very high risk”) may require different types of treatments compared with those with “lower-risk” MDS.

What Mutations are Associated with High-Risk and Very-High-Risk MDS?

The specific mutations associated with high-risk and very high-risk MDS can vary among individuals, and not all cases of MDS may have identifiable mutations. However, certain genetic mutations are commonly associated with high-risk and very high-risk MDS. Some examples include:

• TP53 mutations: TP53 is a gene that regulates cell growth and prevents the formation of cancerous cells. TP53 mutations are associated with more aggressive forms of MDS, including high-risk and very high-risk MDS, and are often associated with a poorer prognosis.
• Complex karyotype: A complex karyotype refers to multiple cytogenetic abnormalities in the chromosomes of cells. This is commonly seen in high-risk and very high-risk MDS and is linked with a higher risk of disease progression to AML.
• Monosomal karyotype: A type of complex karyotype with one or more monosomies (loss of one copy of a chromosome) without good prognostic cytogenetic abnormalities. Monosomal karyotype is associated with very high-risk MDS and a poor prognosis.
• Other genetic mutations: Other mutations commonly associated with high-risk and very high-risk MDS include mutations in genes such as ASXL1, RUNX1, and SRSF2, among others. These mutations are often associated with a higher risk of disease progression and poorer prognosis.

How Do Genetic Mutations Influence the Prognosis of MDS?

It's important to note that these mutations alone do not definitively determine the risk category or prognosis of MDS, as other factors such as age, overall health status, and response to treatment also play important roles. After the proper tests and questions, an MDS specialist will be able to determine your risk stage and create a personalized treatment plan. 

Unlock Personal Insights Into Your Diagnosis for Free with HealthTree Cure Hub

Being your best self-advocate can involve effective communication with your MDS specialist, tracking your MDS, and participating in the decision-making process of your treatment.

By securely connecting your electronic health records, HealthTree Cure Hub allows you to use the clinical trial finder, find a specialist, keep track of your disease, and so much more! Sign up for a free account today to get started. 

CREATE MY FREE ACCOUNT

Source: 

• Revised International Prognostic Scoring System for Myelodysplastic Syndromes