Cytogenetics and molecular genetics (FISH)
-Cytogenetics: the study of chromosomal abnormalities
-FISH (FISH – fluorescence in situ hybridization): the study of genetic material with fluorescent molecules
t(9;22)Ph+ – BCR/ABL gene
Specific marker of CML, and a predictor of poor prognosis in ALL
t(15;17) – PML-RARA gene –
specific marker of acute promyelocytic leukemia (APL)
Prognosis in acute leukemia
Depends on several factors:
•Adequacy of treatment
•Age >55
•Previous antecedent hematologic disorder (MDS)
•Comorbidities
•WBC count in the onset
•LDH level
•Chromosomal abnormalities
Treatment of leukemia
•Chemotherapy (induction remission, consolidation, maintenance)
•Radiation therapy
•Stem cell transplantation
Male patient., 85 years old
ХI 2014
General weakness
Dizziness
40 C
Fever
37 C
Anorexia |
-8 kg |
|
ГКБ №64
XII 2014
Hepatosplenomegaly
Nasal bleeds
Gyngival bleeds
Hematomas on the skin
RBC -1,9х1012
HGB - 62 г/л
WBC - 155,5х109/л
PLT- 27х109/л
Госпитализация
•Myelogramm: blasts72%, myelocytes 0,2%, metamyelocytes 0,1%, bands 0,2%, segments 1%.
Physical examination at admission
•Fever 39.8 С
•Petechias and ecchymoses >2 сm
•Hepatomegaly 17/8-12/3-9 cm.
•Splenomegaly
•Nasal and gingival bleeds
Chronic myelogenous leukemia
•Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate with eosinophilia, basophilia and splenomegaly
•Obligate symptom: Ph-chromosome or BCR-ABL transcript
Mechanism of formation of Philadelphia chromosome
Транслокация
Epidemiology оf CML
•15-20% of all leukemia
•1-2 : 100 000
•Mean age– 45-55 years
•М:F = 3:2
CML
Essentials
•Often asymptomatic
•Prominent leukocytosis
•Lymphadenopathy
•Splenomegaly