A primary pediatric acute myelomonocytic leukemia with t(3;21)(q26;q22): A case report

The rare t(3;21)(q26;q22) translocation results in gene fusion and generates multiple fusion transcripts, which are typically associated with therapy-related myelodysplastic syndrome, acute myeloid leukemia, and chronic myelogenous leukemia. Here, we report a rare case of de novo acute myelomonocyti...

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Bibliographic Details
Published in:Medicine (Baltimore) 2023-10, Vol.102 (43), p.e35721
Main Authors: Duan, Jia-Xin, Liu, Fang, Chang, Li, Che, Guang-Lu, Yang, Qiu-Xia, Teng, Jie, Jian, Hui, Liu, Xiao-Juan, Lai, Shu-Yu
Format: Article
Language:English
Subjects:
Child
Child, Preschool
Chromosomes, Human, Pair 21
Clinical Case Report
Core Binding Factor Alpha 2 Subunit - genetics
Female
Hematopoietic Stem Cell Transplantation - methods
Humans
Leukemia, Myeloid, Acute - genetics
Leukemia, Myelomonocytic, Acute
Pneumonia - genetics
Translocation, Genetic
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Summary:The rare t(3;21)(q26;q22) translocation results in gene fusion and generates multiple fusion transcripts, which are typically associated with therapy-related myelodysplastic syndrome, acute myeloid leukemia, and chronic myelogenous leukemia. Here, we report a rare case of de novo acute myelomonocytic leukemia in a young child with t(3;21)(q26;q22). A 2-and-a-half-year-old female patient presented with abdominal pain, cough, paleness, and fever for 3 weeks, without any history of malignant diseases. Chest computed tomography revealed pneumonia. Bone marrow smear confirmed acute myelomonocytic leukemia. Cytogenetic analysis and Sanger sequencing identified RUNX1-MECOM and RUNX1-RPL22 fusion genes as a result of t(3;21)(q26;q22). The patient received 3 courses of chemotherapy, but bone marrow smear examination showed no remission. According to the wishes of the patient family, the allogeneic hematopoietic stem cell transplantation (Allo-HSCT) was chosen. The patient did not experience any adverse reactions after Allo-HSCT. The red blood cells and platelets increased without transfusion. The pneumonia recovered after antibiotic treatment. The patient recovered well after Allo-HSCT. Therefore, for patients with RUNX1-MECOM and RUNX1-RPL22 fusion genes, transplantation may be a good choice when chemotherapy is not effective.
ISSN:0025-7974
1536-5964
DOI:10.1097/MD.0000000000035721