title: Juvenile myelomonocytic leukemia.
abstract: Juvenile myelomonocytic leukemia (JMML) is a rare fatal hematopoietic disorder of early childhood. We are presenting a case of 9-month-old female child who was admitted with abdominal distension, irritability, and hepatosplenomegaly. Peripheral blood film examination showed leukoerythroblastosis with leukocytosis, absolute monocytosis, microcytic hypo chromic anemia, and thrombocytopenia. Bone marrow examination showed myeloid hyperplasia, Hb HPLC revealed normal HbF (1.3 %) and HbA2 (2.9 %). There was absolute gamma globulinemia and DCT positivity. Cytogenetic studies revealed a normal karyotype with absence of Philadelphia (Ph) chromosome, monosomy 7 or any other chromosomal abnormality. Diagnosis of JMML was rendered according to the diagnostic criteria laid down by WHO classification 2008 with presence of peripheral blood monocytosis >1 × 10(9)/L, blasts <20 % of leucocytes in blood or nucleated cells in bone marrow, absence of Ph chromosome, presence of immature granulocytes in the blood and WBC count >10 × 10(9)/L. The patient was then started on a regimen of chemotherapy to which she gave a promising response.
authors.affiliation: Department of Pathology, Lady Hardinge Medical College, New Delhi, India ; 209, Type III, Ayurvigyan Nagar, New Delhi, India.
authors.forename: Neha
authors.initials: N
authors.lastname: Sethi
authors.affiliation: Department of Pathology, Lady Hardinge Medical College, New Delhi, India.
authors.forename: Shivani
authors.initials: S
authors.lastname: Kushwaha
authors.affiliation: Department of Pediatrics, Kalawati Saran Children Hospital, New Delhi, India.
authors.forename: Bhawana
authors.initials: B
authors.lastname: Dhingra
authors.affiliation: Department of Pathology, Lady Hardinge Medical College, New Delhi, India.
authors.forename: Mukta
authors.initials: M
authors.lastname: Pujani
authors.affiliation: Department of Pediatrics, Kalawati Saran Children Hospital, New Delhi, India.
authors.forename: Jagdish
authors.initials: J
authors.lastname: Chandra
authors.affiliation: Department of Pathology, Lady Hardinge Medical College, New Delhi, India.
authors.forename: Shailaja
authors.initials: S
authors.lastname: Shukla
keywords: HbF; JMML; Ph chromosome