A 3.5-year-old male was referred to our tertiary center, Estella Clinic for Children with Cancer and Blood Diseases, Manado, Indonesia, due to pallor and enlarging abdomen and neck mass noticed over the last year. The mother also mentioned recurrent fever and diarrhea for the previous two years. The patient's weight was 9.4 kg and his height was 76 cm (weight for age <P3, height for age <P3, and weight for height P15-50). Physical examination showed anemia, breathing difficulty, enlarged unilateral neck, lymph node with a diameter of 3 cm, enlarged liver 7 cm below the costal margin, spleen length 10 cm, and peripheral edema. He was diagnosed with tuberculosis and treated with triple tuberculostatic therapy; probably, this was a false diagnosis and JMML being the cause of his symptoms.
The initial routine blood test showed a hemoglobin content of 6.4 g/dl, white blood cell counts of 315.62 x 103/muL, neutrophils of 180.5 x 103/muL, lymphocytes of 23.4 x 103/muL, monocytes of 77.93 x 103/muL, and platelets of 17 x 103/muL. Blood smears showed normocytic anemia and leukocytosis with various stages of cell maturation, i.e., 10% suspected blast, 17% myelocyte, and 17% metamyelocytes, with a thrombocytopenic crisis. The HbF level was 5.8%. BCR-ABL gene tested negative. Chest X-ray and echocardiography were within normal limits. An abdominal ultrasound showed enlargement of the liver, spleen, peripancreatic, and paraaortic lymph nodes.
Our patient was diagnosed with juvenile myelomonocytic leukemia, accompanied by cachexia. Considering that HSCT was not able to be done in our center, the lack of financial possibilities to seek treatment abroad, and the complex condition of the patient, the family agreed to do palliative treatment to keep him in a reasonably good clinical condition for as long as possible. He had received hydroxyurea shortly before the diagnosis of JMML was made. The patient was treated with oral 6-mercaptopurine (6-MP) and subcutaneous cytarabine. The treatment plan consisted of 4 cycles of a 4-weeks regimen of 3 weeks 6MP daily and 1 dose of cytarabine weekly, with one week of no chemotherapy. Doses were to be increased if well tolerated, but to be decreased, if counts dropped too low. 6-MP was given daily, started with a dose of 10 mg/m2/day, and increased 20% every cycle, if tolerated, until a maximum of 20 mg/m2/day. Subcutaneous cytarabine 10 mg/m2 was given every week, except for the very first week. The chemotherapy was well tolerated, and the patient's general condition was improving; his weight increased to 10.2 kg. He survived a bout of COVID infection with a mild cough and a positive COVID antigen test. There was no fever, bleeding signs, or breathing difficulty. Four weeks after receiving 6-MP, the white blood cell count decreased to 10.6 x 103/muL, and the spleen size was half of the original size (categorized as a complete clinical response). The 6-MP dose was increased by 20% in the second cycle and was also well tolerated. The patient continued the chemotherapy at home until week 16, and chemotherapy was stopped, but 16 weeks after the diagnosis of JMLL, he developed severe thrombocytopenia, endophthalmitis, and sepsis and passed away. The protocol of palliative chemotherapy for JMML at our center and the patient's laboratory findings during treatment are shown in Table 1.