Introduction Causes
Primary myelofibrosis (PMF) is a rare bone • The underlying cause of primary
marrow disorder that is characterized by
abnormalities in blood cell production
(hematopoiesis) and scarring (formation of
fibrous tissue) within the bone marrow. Bone
marrow is the soft, spongy tissue that fills the
center of most bones. Bone marrow contains
specialized cells called hematopoietic stem
cells that grow and eventually develop into
one of the three main types of blood cells: red
blood cells, white blood cells or platelets. In
primary myelofibrosis, a change in the DNA of
a single hematopoietic stem cell causes the
abnormal cell to continually reproduce itself.
Eventually, these abnormal cells crowd out
normal, healthy cells in the marrow and, along
with scarring within the marrow, disrupt the
production of red and white blood cells and
platelets.
Synonyms of Primary Myelofibrosis
• agnogenic myeloid metaplasia (AMM)
• chronic idiopathic myelofibrosis (CIMF)
• idiopathic myelofibrosis
• IM
• myelofibrosis with myeloid metaplasia
Myelofibrosis • PMF
In approximately 20 percent of individuals,
primary myelofibrosis will progress to acute
myelogenous leukemia, a specific type of
blood cancer.
Diagnosis
-Diagnosis of primary
myelofibrosis is unknown (idiopathic). myelofibrosis may be made
• Approximately, 50 percent of people with based upon a thorough clinical
PMF have a mutation of the JAK2 gene. evaluation, detailed patient
This gene is also mutated in essential history, and various specialized
thrombocythemia and polycythemia vera. tests.
• Mutations in the CALR gene occur in - the presenting sign of the
approximately 20% of the patients. disorder is an abnormally
Approximately 10 percent of those affected enlarged spleen (splenomegaly)
have mutations of the MPL gene. that may be detected upon
• The exact role that JAK2, CALR or MPL routine examination or low levels
gene mutations play in the development of of circulating red blood cells.
p r i m a r y m y e l o fi b r o s i s i s n o t f u l l y - A complete blood count (CBC)
understood. may demonstrate low levels of
red blood cells or elevated levels
Stem cells of platelets or white blood cells.
• Many of the symptoms of primary Treatment
myelofibrosis occur because abnormalities - In asymptomatic individuals,
affecting the formation of blood cells. physicians may recommend that
• The disorder begins with an acquired, no therapy be given until
change in the DNA of one hematopoietic
stem cell. This defective cell produces
symptoms appear (watch and
wait).
copies of itself that also carry the same - Blood transfusions may be
mutated DNA. prescribed if for individuals with
• These abnormal cells eventually severe anemia. However, several
outnumber healthy cells in the marrow. In
response to this process, scar (fibrous)
tissue forms within the bone marrow
medications may be able to
improve red blood cells so that
blood transfusions are not
(fibrosis) further affecting blood cell necessary.
production. - Drugs that hinder the ability of
• I n p r i m a r y m y e l o fi b r o s i s , t h e r e i s the bone marrow to develop
overproduction of megakaryocytes, which blood cells (myelosuppressive
are cells that eventually become platelets. agents) such as hydroxyurea
have been used to treat primary
myelofibrosis.