12. Chronic myeloid leukemia: etiology, pathogenesis, molecular biology, clinical manifestation, evolution, diagnosis, treatment.

Question 1

what is the etiology of CML ?

Answer 1

translocation between 9 and chromosome 22

BCR - ABL gene in chromsome 22

constantly activated tyrosine kinase

which is now called the philadelphia chromosome

Question 2

what is atypical cml ?

Answer 2

Philadelphia chromosome negative

Question 3

what is the clinical presentation of CML ?

Answer 3

chronic phase : 3-5 years
increased granulocyte proliferate increase = anemia occurs
= fatigue , dyspnea , parlour

thrombocyte can be increased normal or decreased = easy bruising

heaptosplenomegaly very prominent
infracto to the spleen = fruction rub seen

and lymphadenopathy

bone pain = leukocytic infiltration

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acceleration phase(3-6 months) 
Anemia & splenomegaly become more evident

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blastocysts crisis

lymph node swelling

Question 4

diagnosis of CML ?

Answer 4

in the chronic phase 
we can see high wbc 
and in bone marrow biopsy we can see myeloblast occuping less than 10 percent 
the basophils are less than 20percent 
here the platlets are high or normal 

there is the accelerartion phase
bone marrow , blast cells are 15-20 percent
the basophils are more than 20 percent
platlets are low or high

blastocyst crisis
the bone marow biopsy will show more than 20 perent
there is thrombocytopnea
and notjust the myelogenous linegage but not also the lymphois and hard to diffrentate this from ALL

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cbc = leukocytosis
basophilia , eosinophilia , thrombocytosi
normcytic normochormic anemia

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definitive diagnosis in philadelphia chromose gene study - fish and pCR

Question 5

complication of CML ?

Answer 5

in acceleration phase may develop bone marrow fibrosis

Question 6

what is the treatment of CML ?

Answer 6

imatinib

resistance of imatinib = interferon alpha treatment of choice

allogenic bone marrow transplant if both resistance