A 60 year old man presented with fatigue, weight loss and heaviness in left hypochondrium for 6 months. The hemogram showed Hb.10gm/dL, TLC 5 lakhs/mm3, platelet count 4 lakhs/mm3, DLC; neutrophil 55%, lymphocutes 4%, monocytes 2%, basophils 6%, metamyelocytes 10%, myelocytes 18%, promyelocytes 2% and blasts 3%. The most likely cytogenetic abnormality in this case is ?
Ans. is 'b' i.e., t (9 ; 22) o It is a case of chronic myeloid leukemia o First lets discuss the hematological findings in CML. CML is characterized by proliferation of cells of the granulocyte series that have matured beyond the myeloblast stage. Bone marrow cells are primarily of myeloid or megakaryocyte lineage with greatly altered myeloid to erythoid ratio. (Myeloblast cells constitute less than 5% of the total marrow cells) Normochromic normocytic anaemia Platelet count is elevated Decrease in leucocyte alkaline phosphatase (LAP) Serum levels of Vitamin B12 and Vitamin B12 binding protein is generally elevated. o So all the hematological findings match with those of the patient. o Now lets correlate these findings with the symptoms and signs of CML. Non specific - fatigue, malaise weight loss Left upper quadrant pain - (due to splenic enlargement) Infections, thrombosis bleeding - (due to granulocye or platelet dysfunction) Vasocculusive disease, cerebrovascular accidents, Myocardial infarction - (due to severe thrombosis) o The chromosomal abnormality associated with CML is the presence of philadelphia chromosomes t (9: 22).
t (1; 21)
t (9; 22)
t (15; 17)
Trisomy 21