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PMID: 40214855 Published · epublish English

HLA-DR positive acute promyelocytic leukaemia (APML) with cryptic PML::RARA fusion.

Journal of hematopathology ·Vol. 18 ·No. 1 ·2025-04-11

Xu K, Vitsaras E, Boneva T, Nacheva E, Gupta R

Abstract

We report the case of a 42-year-old female presented with cytopenia and abnormal promyelocytes on blood film. The promyelocytes were HLA-DR positive by flow cytometry. The rapid FISH for PML::RARA was negative. Myeloid NGS identified PML::RARA fusion, which was confirmed by molecular karyotyping and PCR. She was treated with ATRA and ATO to complete molecular remission. This case highlighted the importance of using rapid RNA sequencing to identify cryptic fusion and rare fusions and combining morphologic, immunophenotypic, cytogenetic and molecular analyses to ensure correct diagnosis and optimal management.

Keywords
APML Cryptic PML::RARA fusion HLA-DR
MeSH 主题词
Humans Leukemia, Promyelocytic, Acute/genetics,diagnosis,drug therapy Female Adult Oncogene Proteins, Fusion/genetics HLA-DR Antigens/genetics Retinoic Acid Receptor alpha/genetics
Article Info
Journal
Journal of hematopathology
Abbr.
J Hematop
ISSN
1865-5785
Corresponding email
Published
2025-04-11
Language
English
Country/Region
Germany
NLM ID
101491976
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