CASE REPORT
A 3.5 years-old male was referred to our tertiary center due to pallor,
enlarging abdomen and neck mass noticed for the last year. The mother
also mentioned recurrent fever and diarrhea for the last two years.
Patient’s weight was 9.4 kg and height 76 cm. Physical examination
showed anemia, breathing difficulty, enlarged unilateral neck lymph node
with diameter of 3 cm, enlarged liver 7 cm below costal margin,
splenomegaly Schuffner IV, and peripheral edema. He was diagnosed as
tuberculosis and treated with triple therapy, probably this was a false
diagnosis, JMML being the cause of his symptoms.
The initial routine blood test showed hemoglobin content of 6.4 g/dl,
white blood cell counts of 315.62 x 103/uL,
neutrophils of 180.5 x 103/uL, lymphocytes of 23.4 x
103/uL, monocytes of 77.93 x 103/uL,
and platelets of 17 x 103/uL. Blood smears showed
normocytic anemia, hypercellularity with various stadia of cell
maturation, i.e. 10% suspected blast, 17% myelocyte, 17%
metamyelocytes, with thrombocytopenic crisis. The HbF level was 5.8%.
BCR-ABL gene was tested negative. Chest x-ray and echocardiography were
within normal limits. An abdominal ultrasound showed enlargement of
liver, spleen, peripancreatic and paraaortic lymph nodes.
Our patient was diagnosed as juvenile myelomonocytic leukemia,
accompanied by cachexia. Considering that HSCT was not able to be done
in our center, lack of financial possibilities to seek that treatment
abroad, and the complex condition of the patient, the family agreed to
do palliative treatment with the aim to keep him in reasonably good
clinical condition for as long as possible. Patient was treated with
6-mercaptopurin and subcutaneous cytarabine. The treatment plan
consisted of 3 cycles of 4-weeks regimen, given the total of 12 weeks
chemotherapy. 6-MP was given daily, started with dose of 10
mg/m2/day and increased 20% every cycle, if
tolerated, until maximum 20 mg/m2/day. Subcutaneous
cytarabine 10 mg/m2 was given every week, except for
the first day of every cycle. Chemotherapy was well-tolerated, and
patient’s general condition was improving, his weight increased to 10.2
kg. He survived a bout of COVID infection, with mild cough and a
positive COVID antigen test. There was no fever, bleeding signs, nor
breathing difficulty. Four weeks after receiving 6-MP, the white blood
cell count decreased to 10,6 x 103/uL and spleen size
was half of the original size (categorized as complete clinical
response). The 6-MP dose was increased 20% in the second cycle and also
well-tolerated. Patient continued the chemotherapy at home until week
15, chemotherapy was stopped, but 16 weeks after the diagnosis of JMLL,
he developed severe thrombocytopenia, endophthalmitis, sepsis and passed
away.