Related Experiment Video
Updated: May 18, 2026
Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia
Published on: September 18, 2013
[Megakaryoblastic acute leukemia: bone and joint manifestations in a 7-month-old child]
F Chambon1, C Paillard, E Doré
1Centre régional de cancérologie et thérapie cellulaire pédiatrique, hôpital Estaing, CHU de Clermont-Ferrand, BP 69, 1, place Lucie-Aubrac, 63001 Clermont-Ferrand, France.
Insights
Diagnosing childhood acute megakaryoblastic leukemia can be challenging due to myelofibrosis. This case highlights indirect diagnostic clues and eventual confirmation in a 7-month-old infant.
Area of Science:
- Pediatric Hematology Oncology
- Leukemia Research
Background:
- Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) in children, comprising 3-10% of cases.
- Diagnosis can be complicated by myelofibrosis, a condition involving bone marrow scarring.
Observation:
- A 7-month-old infant presented with hepatomegaly, bicytopenia, bone pain, and recurrent aseptic arthritis.
- Initial bone marrow investigations were inconclusive due to sampling issues and lack of abnormal cells in morphology, immunophenotyping, and cytogenetics.
- Indirect evidence included radiographic findings (periosteal new bone, lytic lesions) and bone marrow biopsy showing myelofibrosis and micromegakaryocytes.
Findings:
- Despite diagnostic challenges, megakaryoblasts were eventually identified in bone marrow aspirate smears after over two months of investigation.
- The findings supported an early suspicion of AMKL.
Implications:
- This case underscores the importance of considering AMKL in infants with suggestive clinical and radiological findings, even with initially negative bone marrow results.
- Early suspicion and persistent investigation are crucial for timely diagnosis and treatment initiation in challenging pediatric leukemia cases.
Abstract:
Acute megakaryoblastic leukemia accounts for approximately 3-10% of acute myeloid leukemia in children. Its diagnosis may be difficult because of associated myelofibrosis. We report the case of a 7-month-old child who presented hepatomegaly with bicytopenia. She also developed bone and joint pain with recurrent aseptic arthritis. We suggested the diagnosis of megakaryoblastic leukemia early but multiple bone marrow investigations had been processed without positive results because of sampling problems and lack of abnormal cells in the morphological, phenotypic, and cytogenetic examinations. We had a variety of indirect evidence for our assumption: the x-ray showing periosteal new bone, lytic lesions and metaphyseal bands, bone marrow aspirate smears with micromegakaryocytes, and bone marrow biopsy suggesting myelofibrosis. This was very suggestive of leukemia but we could not prove it and we finally found megakaryoblasts on bone marrow aspirate smears after more than 2 months of investigation and initiated a course of corticosteroids.
Related Concept Videos
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
01:22Bone Marrow Sampling and Transplants
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...
01:29Acute Kidney Injury III: Clinical Manifestations
01:28Graves' Disease I: Introduction
01:27Disorders of Leukocytes
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...
01:24Chronic Kidney Disease II: Clinical Manifestations