Flashcards in EXAM #3: REVIEW Deck (70)
Describe the clinical presentation of MDS.
1) Many patients are asymptomatic at diagnosis and come to their physician for an abnormality on a CDC i.e.
2) Other patients present with symptoms relating to the above, of which, anemia is the most common
What are the specific physical exam findings that may present with MDS?
- Pallor (anemia)
- Petechiae/ purpura (thrombocytopenia)
- Sweet's Syndrome i.e. Acute Febrile Neutrophilic Dermatosis
- Hepatomegaly/Splenomegaly (relatively uncommon)
What are some of the differential diagnoses to MDS?
1) Vitamin B12 and Folate Deficiency
2) Viral infection e.g. HIV
5) Pb toxicity
7) Erythropoietic agents e.g. EPO or GM-CSF
What is 5q Syndrome?
MDS associated with a deletion of the long arm of chromosome 5
What are the clinical features of 5q Syndrome>
This is a syndrome seen almost exclusively in older women; it is characterized by:
1) Severe macrocytic anemia
3) Normal to elevated platelet counts
4) Lack of neutropenia
What is CMML?
Chornic Myelomonocytic Leukemia; the overproduction of maturing monocytic cells and sometimes dysplastic neutrophils with:
What does low intensity treatment entail for MDS?
1) Supportive care
3) Growth Factor Support
What is CML?
Neoplastic hyperproliferation of mature myeloid cells, especially granulocytes and their precursors
Describe the presentation of CML.
Symptomatic presentations of CML present most frequently with:
2) Bleeding episodes from platelet dysfunction
3) Weight loss
4) Night sweats
5) Abdominal pain/ fullness (LUQ radiating to left shoulder)
What CBC findings are characteristic of CML?
Dramatically increased WBC count with BASOPHILIA being the most specific elevation associated with CML
What are the characteristic features of the chronic phase of CML?
1) Basophilic on WBC diff.
2) Myeloblasts less than 10%
3) Presence of BCR-ABL fusion protein
How is CML diagnosed?
1) CBC/ PBS showing leukocytosis w/ basophilia
2) Bone marrow biopsy showing granulocytic hyperplasia
3) Confirmation with FISH or RT-PCR for BCR/ABL
List the MAJOR criteria for PV.
1) Hb greater than 18.5 and 16.5 for men and women
2) JAK2 mutation
List the MINOR criteria for PV.
1) Bone marrow hypercellularity
2) Low serum EPO
What are the clinical manifestations of ET?
Either increased risk of thrombosis or bleeding events depending on if the overproduced platelets are functional vs. non-functional
What are the diagnostic criteria for ET?
1) Platelet count greater than 450,000
2) BM biopsy showing hyperproliferation of megakaryocyte lineage
3) JAK2 mutation present or rule out reactive thrombocytosis
How is ET treated?
What cell line undergoes hyperprolifeation in Primary Myelofibrosis? What factor causes fibrosis?
- Mature myeloid cells i.e. megakaryocytes
- PDGF causes fibrosis of the bone marrow
What are the clinical features of Primary Myelofibrosis?
1) Splenomegaly due to extramedullary myelofibrosis
2) Leukoerythroblastic PBS i.e. tear drop RBCs, nucleated RBCs, immature granulocytes
3) Increased risk of infection, bleeding, and thrombosis
What are the supportive measures used as treatment for Primary Myelofibrosis?
1) Recombinant EPO
2) Iron chelation
4) JAK2 inhibitors
5) Allogenic Stem Cell Transplant*
Note that this is the only treatment currently available that has curative potential.
Generally, how is Multiple Myeloma treated?
4) Bone marrow transplant
5) Bisphosphates/ radiation
How are Plasmacytomas diagnosed?
1) Biopsy proven lesion of the bone or soft tissue WITH:
- Normal bone survey
- No evidence of end organ damage
- Bone marrow with no evidence of plasma cells
Thus, a) demonstrate presence of tumor, b) rule out Multiple Myeloma
What are indications of poor prognosis with Amyloidosis?
1) Cardiac involvement
2) ANS neuropathy
3) Liver involvement with hyperbilirubinemia
4) Lack of suppression of underlying clonal disease
What is the key symptom of Waldenstrom's Macroglobulinemia?
What is the treatment for Waldenstrom's Macroglobulinemia?
Chemotherapy and plasmapharesis if symptomatic
What are the major categories of disease that are associated with a higher prevalence of childhood cancer?
2) Metabolic disorders
3) Chromosome instability
When a child presents with unexplained petechiae, what are the two disorders that should be high on your differential diagnosis?
When a child presents with lymphadenopathy that is unresponsive to antibiotics, what are the two disorders that should be high on your differential diagnosis?
When a child presents with a pharyngeal mass, what are the three disorders that should be high on your differential diagnosis?
3) Nasopharyngeal carcinoma