Diseases of The Bone Marrow and Blood Conditions That Can Occur When The Blood-Forming Cells in The Bone Marrow Become Abnormal

Myeloproliferative disorders Myelodysplastic syndromes
Diseases of the bone marrow and conditions that can occur when the blood-
blood forming cells in the bone marrow become
abnormal
In myeloproliferative diseases, a In myelodysplastic diseases, the blood stem
greater than normal number of cells do not mature into healthy red blood
blood stem cells develop into one cells, white blood cells, or platelets and as a
or more types of blood cells and result, there are fewer of these healthy cells
the total number of blood cells
slowly increases
In myeloproliferative disorders, In myelodysplastic syndromes, the cells
cells mature normally, but they mature abnormally. A stem cell in the bone
have an abnormally high amount marrow, instead of maturing into a normal
of proliferation – hence the name cell, matures into something else –
emphasizes they are proliferative. something just weird, and often not very
This can lead to very high numbers functional
of cells in the blood.
Signs and symptoms Signs and symptoms
 Shortness of breath during  Anemia (low RBC count or
exertion reduced hemoglobin) – chronic
 Weakness and fatigue tiredness, shortness of breath, chilled
 Pale skin sensation, sometimes chest pain
 Loss of appetite  Neutropenia (low neutrophil count) –
 Prolonged bleeding from increased susceptibility to infection
minor cuts due to low  Thrombocytopenia (low platelet
platelet counts count) – increased susceptibility
 Purpura, a condition in to bleeding and ecchymosis (bruising
which the skin bleeds, ), as well as
causing black and blue or subcutaneous hemorrhaging resulting
pin-sized spots on the skin in purpura or petechiae
 Sinus, skin or urinary  Splenomegaly or
infections due to low white rarely hepatomegaly
blood cell counts
Cause Cause
 chromosome negative cases  Exposure to chemotherapy
have an (especially alkylating agents such
activating JAK2 or MPL mut as melphalan, cyclophosphamide, bu
ation sulfan, and chlorambucil)
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 Mutations in CALR have or radiation (therapeutic or
been found in the majority accidental).
of JAK2 and MPL-negative  Xylene and benzene exposure has
essential thrombocythemia been associated with myelodysplasia
and myelofibrosis  Atomic-bomb survivors 40 to 60
years after radiation exposure
Diagnosis Diagnosis
Thrombocythemia  Full blood count and examination
 Sustained platelet counts of blood film: The blood film
greater than or equal to morphology can provide clues
600x109/L about hemolytic anemia, clumping of
 Bone marrow biopsy the platelets leading to
showing proliferation spurious thrombocytopenia,
mainly in the megakaryocyte or leukemia.
line with enlarged, mature  Blood tests to eliminate other
megakaryocytes. common causes of cytopenias, such
Myelofibrosis as lupus, hepatitis, B12, folate, or
 Varying degrees of fibrosis other vitamin deficiencies, kidney
in the bone marrow failure or heart
 Leukoerythroblastosis, often failure, HIV, hemolytic
with significant dysmorphic anemia, monoclonal gammopathy
features in all three cell lines  Flow cytometry is helpful to identify
 Splenomegaly, and often blasts, abnormal myeloid maturation,
hepatomegaly, secondary to and establish the presence of
extra medullary any lymphoproliferative disorder in
hematopoiesis. the marrow
 The blood findings include  Cytogenetics or chromosomal
prominent anisocytosis and studies: This is ideally performed on
poikilocytosis in the red the bone marrow aspirate.
blood cells, with teardrops Conventional cytogenetics require a
(dacrocytes) fresh specimen, since live cells are
 Nucleated red blood cells are induced to enter metaphase to allow
also frequently found chromosomes to be seen
 A left shift in the white cell  Virtual karyotyping can be done for
series is typical, with MDS
immature myeloid cells and
even occasional blasts.
Basophils are usually
increased.
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 Platelets are either normal
or decreased in number, and
often show dysmorphic
features, with giant platelets
and uneven or incomplete
granularity.
Polycythemia Vera
Major findings:
 increased RBC mass
 splenomegaly
 clonal genetic abnormality
other than Ph chromosome
or BCR/ABL fusion gene
 endogenous erythroid
colony formation in vitro
Minor findings:
 thrombocytosis >400 x 109/L
 WBC>12 x 109/L
 bone marrow biopsy
showing panmyelosis with
prominent erythroid and
megakaryocytic proliferation
 low serum erythropoietin
levels
Chronic myelogenous leukemia
 Peripheral basophilia greater
than 20%
 Persistent thrombocytopenia
(<100 x 109/L) unrelated to
therapy or persistent
thrombocytosis (>1000 x
109/L) unresponsive to
therapy;
 Increasing spleen size and
WBC count unresponsive to
therapy
 Cytogenetic evidence of
clonal evolution.
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 chronic myelogenous
leukemia (CML)
 polycythemia Vera
 primary myelofibrosis (also
called chronic idiopathic
myelofibrosis)
 Essential thrombocythemia
 Chronic neutrophilic
leukemia
 Chronic eosinophilic
leukemia.
 Prostate cancer is cancer that occurs in the prostate — a small walnut-

shaped gland in men that produces the seminal fluid that nourishes and
transports sperm.
 Colorectal cancer (CRC), also known as bowel cancer, colon cancer,
or rectal cancer, is the development of cancer from the colon or rectum
(parts of the large intestine).
4|Page

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Myeloproliferative disorders Myelodysplastic syndromes

 Prostate cancer is cancer that occurs in the prostate — a small walnut-

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