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Myelofibrosis

Overview

Myelofibrosis is a rare bone marrow cancer in which scar tissue (fibrosis) replaces healthy bone marrow, making it difficult to produce normal blood cells.

As blood cell production decreases, patients may develop anemia, fatigue, enlarged spleen, and other systemic symptoms. MF is classified as a myeloproliferative neoplasm (MPN). It may occur on its own (primary MF) or evolve from other MPNs such as polycythemia vera or essential thrombocythemia (secondary MF).

MF can be slow‑moving in some patients and more aggressive in others. In some cases, it can progress to acute leukemia.

Causes

Myelofibrosis begins when bone marrow stem cells acquire DNA mutations that alter blood cell production. Mutated stem cells create excess, dysfunctional cells that stimulate inflammation and scar‑tissue formation.

The most common mutations occur in JAK2, CALR, or MPL genes.

These genetic changes lead to abnormal cloning of blood-forming cells and eventual bone marrow failure. In many cases, the exact reason a mutation appears is unknown.

Symptoms

Symptoms vary widely. Some people have no symptoms at first; others experience significant challenges.

Common Symptoms

  • Fatigue, weakness, shortness of breath (from anemia)
  • Pain or fullness below the left rib cage from an enlarged spleen (splenomegaly)
  • Easy bruising or bleeding
  • Night sweats, fever
  • Bone and joint pain
  • Early satiety (feeling full quickly)
  • Unintentional weight loss, itching, concentration problems

Advanced Symptoms

  • Worsening anemia requiring transfusions
  • Severe spleen enlargement causing abdominal pain
  • Frequent infections
  • Extreme fatigue or dizziness

How We Diagnose It

Diagnosis includes clinical evaluation, blood work, and bone marrow testing.

Key Diagnostic Tools

  • Complete blood count (CBC)
  • Peripheral blood smear
  • Bone marrow aspiration and biopsy (to assess fibrosis and marrow cell appearance)
  • Genetic testing for JAK2, CALR, MPL mutations
  • Exclusion of other MPNs (PV, ET, CML) per WHO diagnostic criteria

Must-Meet Criteria

  1. Exclusion of other MPNs (PV, ET, CML) per WHO diagnostic criteria
  2. No evidence of other specified myeloid neoplasms
  3. Presence of JAK2/CALR/MPL mutation or another clonal marker

Minor Criteria (Need At Least One)

  • Anemia
  • Elevated WBC
  • Palpable splenomegaly
  • Elevated LDH
  • Leukoerythroblastosis

Treatment Options

Treatment depends on symptoms, age, genetic findings, and disease risk category.

  • Blood transfusions to treat anemia
  • Medications to manage symptoms (fatigue, itching, bone pain)

Medications targeting JAK/STAT pathways can reduce spleen size, improve symptoms, and improve quality of life:

  • Ruxolitinib (Jakafi)
  • Fedratinib
  • Pacritinib
  • Momelotinib

Choice of JAK inhibitor depends on blood counts, presence of anemia, and spleen size.

  • Interferon therapies in select cases
  • Clinical trials evaluating next‑generation agents (Imetelstat, BET inhibitors, etc.)

The only potential cure, but best suited for younger, higher‑risk patients with good organ function and appropriate donor match.

Living With Myelofibrosis

MF is a chronic condition requiring ongoing monitoring of blood counts, spleen size, and symptoms. Patients may experience alternating periods of stability and worsening. Managing anemia, staying physically active as tolerated, and maintaining close follow‑up with hematology are essential.

Some patients live many years with good quality of life, especially with modern therapies.

When To See Your Provider

Seek urgent care if you experience:

Sudden severe abdominal pain

Blood droplets

Signs of bleeding

Low energy

Rapid fatigue or severe shortness of breath

Unexplained fevers, night sweats, or significant weight loss

Why Choose Illinois CancerCare

A blood disorder diagnosis can feel overwhelming. At Illinois CancerCare, we are committed to ensuring you never have to face it alone. Providing advanced, comprehensive hematology and oncology care for our patients is at the heart of everything we do. Since 1977, our specialists have focused on individualized, evidence-based treatment plans, access to world-class clinical trials, and thorough follow-up. With Illinois CancerCare, you can move forward with confidence knowing trusted expertise and compassionate support are always close to home.‑based treatment plans, access to world‑class clinical trials, and thorough follow‑up.

Sources & Patient Friendly References

Information sourced from Mayo Clinic, Cleveland Clinic, and Blood Cancer United.