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.