Definitions of Disorders
What is an abnormally low total WBC count <4500?
Leukopenia
Cause: JAK2 Mutation
Disorder: ?
Polycythemia Vera
An ANC <500 is considered what? Mild, Moderate, or Severe
Severe
What is the most common acute leukemia in adults?
Acute Myeloid Leukemia (AML)
What is the most common treatment for polycythemia vera?
Phlebotomy
What results from ELANE gene mutations that encodes neutrophil elastase?
Cyclic Neutropenia
You see smudge cells and lymphocytosis. A bone marrow biopsy is NOT required for diagnosis. Which cancer should you think of?
Chronic Lymphocytic Leukemia (CLL)
What is the triad of symptoms of Schwachman-Diamond Syndrome?
1. Pancreatic Dysfunction
2. Cytopenias
3. Bone Abnormalities
What are the two differences in MDS vs. Leukemia?
1. Blast count (Leukemia has more blasts)
2. Onset/duration of symptoms (Leukemia is more acute and rapid)
Note: MDS can progress to AML.
What is the treatment for early stage Chronic Lymphocytic Leukemia?
observation
What is leukostasis?
A state of hyperleukocytosis (WBC count greater than 100K) that is acute and manifests as HA, blurry vision, Papilledema, dizziness, pulmonary issues. It is an emergency and you must lower WBC count quickly. There is a 40% mortality rate within first 48 hours.
What cancer is commonly associated with people with another blood disorder?
Acute Myeloid Leukemia (AML)
Patient is 65 years old with pancytopenia, ringed sideroblasts, and hypercellular bone marrow. What does she have?
Myelodysplastic Syndrome (MDS)
In what type of cancer can Superior Vena Cava Syndrome be something to loo out for?
ALL
Note: Superior Vena Cava Syndrome is an emergency.
What is the first and main thing you should do to treat Neutropenia when you first discover it if it is not at a dangerous level?
Find underlying cause!
What is Hairy Cell Leukemia?
rare malignancy of mature B lymphocytes with hairy cytoplasmic projections
It causes "massive splenomegagly" and is caused by the V600E pathogenic variant in the BRAF gene.
Remission is seen in 95% of patients.
Caused by SBDS gene that affects ribosome mitosis
Schwachman-Diamond Syndrome
How are acute leukemias diagnosted? (what percent of blasts in bone marrow?)
>20%
Acute Lymphoblastic (or leukocytic) Leukemia (aka ALL)
"ALL kids with ALL are cute"
What is the treatment (it is a drug) for Chronic Myeloid Leukemia (CML)?
Tyrosine Kinase Inhibitors
Infiltration of the bone marrow, blood, and visceral organs by neoplastic cells of the hematopoietic system
Leukemia
Malignant transformation of a multipotent hematopoetic stem cell with philadelphia chromsomes
Chronic Myeloid Leukemia (CML)
What are the two major signs and symptoms of ALL (acute lymphoblastic leukemia)?
1. Hepatosplenomegaly
2. Lymphadenopathy
What is the chemo regimen for AML?
Cytarabine plus daunorubicin or idarubicin
What disease is this a treatment option for? 5q del of lenalidomide (Revlimid)
Myelodysplastic Syndrome (MDS)