Myelodysplastic features in a patient with germline CEBPA-mutant acute myeloid leukaemia
| Autor: | Te-Chih Liu, Liang Piu Koh, Peak-Ling Lee, Lily Chiu, Chin Hin Ng, Grace Moshi, Elaine Seah, Wee Joo Chng, Christopher Ng, Evelyn Siew-Chuan Koay, Kenneth Hon Kim Ban, Benedict Yan |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Hematology Myelodysplastic syndromes General Medicine Biology medicine.disease Minimal residual disease Somatic evolution in cancer Germline Pathology and Forensic Medicine 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Germline mutation 030220 oncology & carcinogenesis Internal medicine CEBPA medicine Cancer research Erythropoiesis |
| Zdroj: | Journal of Clinical Pathology. 69:652-654 |
| ISSN: | 1472-4146 0021-9746 |
| DOI: | 10.1136/jclinpath-2016-203672 |
| Popis: | 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 … |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|