4yr old boy presenting with cryptorchidism, sho stature & on auscultation, harsh ejection systolic murmur is heard in pulmonary area. What is the hematological abnormality found in this condition?
Correct Answer: Juvenile Myelomelanocytic leukemia
Description: The history given in the question is suggestive of Noonan syndrome which is associated with Juvenile Myelomelanocytic leukemia; JMML. JMML BCR/ABL negative entity Regarded as MDS/MPN syndrome Seen in children aged <= 4 years An aggressive disease characterized by proliferation of granulocytic and monocytic series. Peripheral blood: Leukocytosis with neutrophilia, monocytosis, nucleated red blood cells Bone marrow: Hypercellular with granulocytic hyperplasia; Monocytes, 5-30%; Megakaryocyte decreased; Blasts + promonocytes <20% Dysplasia, not prominent; Reticulin fibrosis Associated with Neurofibroma type 1 (NF 1) Noonan syndrome Trisomy 8 mosaicism
Category:
Pathology
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