Concurrent juvenile myelomonocytic leukemia with thalassemia in a case with Plasmodium knowlesi infection from Sabah, Malaysian Borneo

Hematol Rep. 2019 Jun 24;11(3):8167. doi: 10.4081/hr.2019.8167. eCollection 2019 Sep 18.

Abstract

A 3-year-old male child was presented with worsening abdominal pain, abdominal distension, lethargy, pallor and hepatosplenomegaly. The patient had multiple outpatient visits in the past and was treated with oral antibiotics, oral anthelmintic agents, albeit with minimal benefit. The patient also had non-neutropenic pyrexia spikes and oral ulcers. The patient was an adopted child; hence details about his biological parents' previous history were unclear. Differential diagnosis of Chronic Myelomonocytic Leukemia (CMML), Juvenile Myelomonocytic Leukemia (JMML), Gaucher's disease, Thalassemia and discrete pancreatic pathology was considered. Hemoglobin electrophoresis was indicative of thalassemia. Also, molecular detection method by polymerase chain reaction confirms a concurrent infection with Plasmodium knowlesi malaria. The BCR-ABL fusion gene was found to be negative. Correlating with peripheral monocytosis, bone marrow aspiration and trephine biopsy with blasts only 3-4% and hepatosplenomegaly, a diagnosis of JMML was established. We present a rare phenomenon with an overlap of signs and symptoms between JMML, underlying thalassemia, and Plasmodium knowlesi, posing a diagnostic challenge to physicians.

Keywords: Chronic Myelomonocytic Leukemia; Juvenile Myelomonocytic Leukemia; Thalassemia.

Grants and funding

Funding and acknowledgements: this study was supported by the Director of SWACH, Pathology Department and Clinical Research Centre of SWACH. We are thankful to Paediatric Hemato-Oncology team who provided the expertise that greatly assisted the research. The authors would like to thank the Director General of Health Malaysia for his permission to publish this article. The present study protocol was reviewed and approved by the Malaysian Ministry of Health (NMRR-19-499-47449). The participants were informed about the objectives of the research and their involvement in the present study. Then, written and signed informed consent were obtained from the participants.