Abstract
Background: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy. Based on literature reports of limited cases, over 50 % of BPDCN have chromosomal abnormalities, but no single chromosomal change has been identified as diagnostic of this entity. Case presentation: In this report, we present a case of BPDCN with complicated chromosomal abnormalities involving chromosomes 12 and 22 and resulting in a simultaneous partial deletion of ETV6 and EWSR1. Notably, these aberrations were identified in bone marrow myeloid precursors in the absence of bone marrow involvement by BPDCN. Conclusion: Analysis of 46 BPDCN cases with abnormal karyotypes (45 from literature reports plus this case) showed that 12p- is one of the most common structural aberrations in BPDCN. The ETV6 and CDKN1B on 12p deserve further investigations as potential markers of BPDCN.
Original language | English (US) |
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Article number | 23 |
Journal | Molecular Cytogenetics |
Volume | 9 |
Issue number | 1 |
DOIs | |
State | Published - 2016 |
Keywords
- 12p-
- Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
- CNKN1B
- Chromosomal abnormality
- ETV6
- EWSR1
- Karyotype
ASJC Scopus subject areas
- Biochemistry
- Molecular Medicine
- Molecular Biology
- Genetics
- Genetics(clinical)
- Biochemistry, medical