Myelodysplasia Flashcards
what is the clinical phenotype of MDS?
peripheral cytopenias in the setting of a normocellular or hypercellular bone marrow
the vast majority of MDS cases are caused by what?
de novo - exact cause is unclear
what are the symptoms of MDS?
- anemia
- infections
- bleeding problems
- organomegaly / lymphadenopathy
- sweet’s syndrome
what is sweet’s syndrome?
- acute neutrophilic dermatosis and pyoderma gangrenosum
what is the gold standard test for MDS?
bone marrow biopsy
which has a shorter latency period for development of MDS / AML - aklylating agents or topoisomerase inhibitors?
topoisomerase inhibitors
what is the typical demise for a patient with high risk MDS?
infection
what are the features of 5q syndrome?
- female predominance
- median age 68 years
- macrocytic anemia, leukopenia, platelets increased
what is the treatment for 5q syndrome?
lenalidomide
what is CMML?
chronic myelomonocytic leukemia - a form of MDS
what are the features of CMML?
- increase in monocytes in BM and peripheral blood
- variable degrees of dysplasia
- can have response to imatinib - otherwise use azacytidine
hypocellular MDS resembles what other condition?
aplastic anemia
what is the low intensity treatment for MDS?
- supportive
- transfusion
- growth factors
what is the high intensity treatment for MDS?
- stem cell transplant
- chemotherapy
- clinical trials of novel therapy
what is the treatment for MDS outside of 5q and CMML?
azacytidine
what is the only chance at a cure for MDS?
allogeneic transplant
what are the classic myeloproliferative disorders?
- CML
- polycythemia vera
- essential thrombocytosis
- primary myelofibrosis
the majority of myeloproliferative disorders will have what mutation?
JAK2
what are the symptoms of CML?
- fatigue, night sweats, weight loss
- splenomegaly
- anemia / platelet dysfunction
- hyperleukocytosis (over 100,000)
what are the lab findings of CML?
- neutrophilia and immature circulating myeloid cells
- absolute basophilia
- elevated LDH, uric acid
what are the three phases of CML?
- chronic
- accelerated
- blast
what are the features of chronic phase CML?
- blood and bone marrow blasts less than 10%
2. BCR-ABL rearrangement
what are the features of accelerated phase CML?
- blood or bone marrow blasts over 10%
2. progressive splenomegaly, weight loss, fevers, bone pain
what are the features of blast phase CML?
blood or bone marrow blasts over 20%
what is the diagnosis for CML?
- BCR-ABL mutation
2. confirm with FISH or RT-PCR
what is the treatment for CML?
imatinib
definition: polycythemia vera
elevated RBC mass in absence of secondary conditions
what is the difference between polycythemia vera and essential thrombocytosis in terms of diagnosis?
polycythemia vera will have an elevation in all of the cell lines
what are the symptoms of polycythemia vera?
itching, erythtomelagia, venous / arterial thrombosis
what are the signs of polycythemia vera?
- hypertension
- splenomegaly
- hepatomegaly
what are the major and minor diagnostic criteria for polycythemia vera? what constitutes an affirmative case?
major - Hb over 18.5 male, 16.5 female plus JAK2
minor - bone marrow with hypercellularity and trilineage growth, low serum EPO
REQUIREMENTS: both major and 1 minor OR 1st major with 2 minor
what is the first line therapy for polycythemia vera?
phlebotomy
what is the first line therapy for essential thrombocytosis?
hydrea, cytoreductive therapy
what needs to be ruled out before making a final diagnosis of ET?
reactive thrombocytosis
what are the hallmarks of primary myelofibrosis?
marrow fibrosis and extramedullary hematopoiesis
