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Correspondence
Myelodysplastic features in a patient with germline CEBPA-mutant acute myeloid leukaemia
  1. Benedict Yan1,
  2. Christopher Ng1,
  3. Grace Moshi2,
  4. Kenneth Ban3,4,
  5. Peak-Ling Lee1,
  6. Elaine Seah5,
  7. Lily Chiu1,
  8. Evelyn S C Koay1,6,
  9. Te-Chih Liu2,
  10. Chin Hin Ng5,
  11. Wee-Joo Chng5,7,8,
  12. Liang Piu Koh5
  1. 1Department of Laboratory Medicine, Molecular Diagnosis Centre, National University Health System, Singapore, Singapore
  2. 2Department of Laboratory Medicine, Haematology Division, National University Health System, Singapore, Singapore
  3. 3Department of Biochemistry, National University of Singapore, Singapore, Singapore
  4. 4Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore, Singapore
  5. 5Department of Haematology-Oncology, National University Cancer Institute, National University Health System, Singapore, Singapore
  6. 6Department of Pathology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  7. 7Cancer Science Institute, National University of Singapore, Singapore, Singapore
  8. 8Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  1. Correspondence to Dr Liang Piu Koh, Department of Haematology-Oncology, National University Cancer Institute, National University Health System, 5 Lower Kent Ridge Road, Singapore 119074, Singapore; liang_piu_koh{at}nuhs.edu.sg

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Introduction

Germline CEBPA-mutant acute myeloid leukaemia (AML) is uncommon. There have been reports of single kindreds and small series1–6 since its initial description in 2004;7 and the most comprehensive characterisation comprising 10 CEBPA-mutant families was recently published.8 We herein describe another patient with AML with a germline CEBPA mutation encountered in our haematology practice.

The patient was a 33-year-old Vietnamese man who presented with a 2-week history of easy bruising and generalised fatigue. Initial investigations revealed haemoglobin of 11.6 g/dL, white cell count of 3.98×109/L and platelet count of 35×109/L. His marrow was moderately hypercellular with increased pleomorphic blasts, consistent with AML subtype M2 (figure 1). Of note, occasional pelgeroid neutrophils were observed. Flow cytometry was performed using a panel of markers, which included CD7, CD15, CD34, CD36, CD45, CD56, CD71, CD117 and HLA-DR. This revealed the presence of CD34-positive myeloblasts (comprising 5.8% of total cells), as well as dys-coordinated granulopoiesis (with partial CD56 expression) and markedly dysplastic erythropoiesis (with partial CD36/CD71 expression), overall suggestive of clonal evolution from a myelodysplastic syndrome (MDS). Cytogenetic analysis revealed a 46,XY,del(9)(q13q22) karyotype. CEBPA mutational analysis by Sanger sequencing revealed two mutations: c.134dupC and c.937_938ins33 (figure 2).

Figure 1

Bone marrow aspirate (May–Grunwald–Giemsa stain) showing myeloblasts and dysplastic neutrophils.

Figure 2

Capillary electropherogram of the germline (A, c.134dupC) and somatic (B, c.937_938ins (33 bp)) CEBPA mutations.

He was started on induction chemotherapy, and flow cytometric analysis of the bone marrow postinduction revealed 0.8% minimal residual disease (MRD). Unexpectedly, CEBPA mutational analysis revealed persistence of the c.134dupC mutation, raising the suspicion of a germline CEBPA mutation. This was subsequently confirmed by CEBPA mutational …

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