What Does a Blood Cancer Diagnosis Mean?

Your diagnosis of an early-stage blood cancer, such as a myeloproliferative neoplasm (MPN) or a myelodysplastic syndrome (MDS), means that something has changed in the way your bone marrow produces blood cells. The bone marrow is the soft, spongy tissue inside your bones where all blood cells are made. In these conditions, the bone marrow's "factory" is not working as it should.

In an MPN, the bone marrow overproduces one or more types of blood cells like red blood cells, white blood cells, or platelets. This can lead to conditions like Polycythemia Vera, which involves too many red blood cells, or essential thrombocythemia, which is an overproduction of platelets. These are often chronic diseases that progress slowly.

In an MDS, the bone marrow produces blood cells that are not formed correctly and do not function as they should. These abnormal cells often die early, leading to low blood counts (cytopenias), such as anemia (low red blood cells). While MDS can be stable for many years, it can sometimes progress to a more aggressive form.

These early-stage conditions are often managed differently from more advanced cancers. The focus is on controlling symptoms and monitoring the disease, rather than on aggressive treatments that may not be necessary.

What are the Symptoms of Blood Cancer? How is it Diagnosed?

Diagnosis is a critical first step that helps your healthcare team understand the specific type of blood cancer you have. It often begins with routine blood work and a physical exam, but it requires several specialized tests to confirm.

Complete Blood Count: This is a standard blood test that measures the number and type of blood cells in your body. It can show high or low counts that may indicate a bone marrow issue.

Peripheral Blood Smear: A technician examines a drop of your blood under a microscope to check the shape, size, and appearance of your blood cells for any abnormalities.

Bone Marrow Aspiration and Biopsy: This is a key diagnostic test. A small sample of bone marrow is taken, usually from the hip bone, to be examined by a pathologist for abnormal cells and to assess the overall health of the marrow.

Cytogenetic and Molecular Testing: Specialized tests are performed on the bone marrow or blood sample to identify specific gene mutations and chromosomal abnormalities, such as the JAK2 mutation in MPNs or specific changes in MDS. The results of these tests are crucial for confirming the diagnosis and guiding your treatment plan.

How Do Doctor’s Treat Blood Cancer?

For early-stage disease, treatment is highly personalized. The goal is to manage symptoms, prevent complications, and maintain a high quality of life. Unlike more aggressive cancers, treatment may not involve immediate chemotherapy.

For MPNs

• Phlebotomy: For a condition like Polycythemia Vera (PV), which involves an overproduction of red blood cells, phlebotomy is a key treatment. This procedure is similar to donating blood, where a pint is withdrawn to reduce the overall red blood cell count and blood volume. This helps to reduce the risk of dangerous blood clots.

“We are developing — and continue to develop — new therapies for polycythemia vera. Even though it’s a rare disease, it’s still a very important condition, especially for the people who have it,” Dr. Aaron Gerds, of the Cleveland Clinic Taussig Cancer Institute, explained in an interview with CURE.

• Low-Dose Aspirin: This is commonly prescribed for both PV and Essential Thrombocythemia (ET) to thin the blood and prevent platelets from sticking together, further lowering the risk of clots.
• Cytoreductive Therapy: When phlebotomy or aspirin alone aren't enough, or if a patient is considered high-risk, a physician may use medications to reduce blood cell counts.
• Hydroxyurea: This is a very common oral chemotherapy drug that works to suppress the overactive bone marrow.
• Interferon Alfa: This is a naturally occurring substance that can be given as a biologic therapy to help control blood cell counts. Newer, longer-acting versions (like Ropeginterferon alfa-2b) are available and may be preferred for some patients.
• JAK Inhibitors: The discovery of the JAK2 gene mutation has led to a new class of targeted therapies. Drugs like Jakafi (ruxolitinib) target the JAK-STAT pathway, which is often overactive in MPNs. While more commonly used for Myelofibrosis and high-risk PV, these drugs are also being studied for use in ET.

For MDS

• Supportive Care: The primary goal for many low-risk MDS patients is to manage symptoms.
• Transfusions: If you have anemia (low red blood cells) or thrombocytopenia (low platelets), blood or platelet transfusions can help alleviate symptoms like fatigue and reduce the risk of bleeding.
• Growth Factors: Erythropoiesis-stimulating agents can be used to encourage the bone marrow to produce more red blood cells, reducing the need for transfusions.
• Immunomodulatory Agents: For a specific subtype of MDS with a chromosome abnormality called isolated del(5q), a drug like Revlimid (lenalidomide) can be highly effective at reducing the need for red blood cell transfusions.
• Hypomethylating Agents (HMAs): These drugs, such as azacitidine and decitabine, are a type of chemotherapy that can help to normalize bone marrow function. They are typically used in higher-risk MDS to slow the progression of the disease.

Novel Therapies and the Future of Treatment

The field of blood cancer research is evolving rapidly. There are many new therapies in clinical trials, including drugs that target specific genetic mutations and immunotherapies. For some patients with a high-risk diagnosis, a bone marrow or stem cell transplant may be considered as a potentially curative option.

The evolving treatment landscape for patients with polycythemia vera. This video provides additional context on the JAK inhibitors and how they are changing treatment approaches for MPNs.

Your treatment plan will be carefully tailored to your specific diagnosis, symptoms, and overall health.

What Side Effects Occur During Blood Cancer Treatment?

Like any medical treatment, therapies for blood cancers can cause side effects. It is important to discuss these with your oncologist, as most can be managed with supportive care.

Fatigue: This is a very common side effect of both the disease itself and the treatments. It is important to listen to your body and rest when you need to.

Low Blood Counts: Some treatments can temporarily suppress bone marrow activity, leading to low numbers of red blood cells (anemia), white blood cells (neutropenia), and platelets (thrombocytopenia). This can increase the risk of infections, fatigue, or bleeding. Your doctor may prescribe medications to help.

Gastrointestinal Issues: Nausea, vomiting, diarrhea, or constipation can occur with some medications.

Skin Issues: Rashes or itching can be a side effect of some targeted therapies.

Your Path Forward After a Blood Cancer Diagnosis

A diagnosis of a blood cancer can be overwhelming, but it's important to remember that it is a manageable condition. This overview is just the beginning of your journey, and with ongoing research, new and more effective therapies are always being developed.

The most important step you can take is to partner with your healthcare team. Ask questions, share your concerns, and be open about any side effects you experience. This will help your oncologist make the best decisions for your care and ensure you have the highest possible quality of life throughout your treatment.

“There is a group of us who are very invested in this disease and are working hard to develop new therapies for [these diseases],” Gerds emphasized in the interview.

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