Blastic plasmacytoid dendritic-cell neoplasia: a challenging case report

Area of Science:

• Hematology
• Oncology
• Immunology

Background:

• Blastic plasmacytoid dendritic-cell neoplasm (BPDCN) is an exceptionally rare hematologic malignancy with poor prognosis.
• Established diagnostic and therapeutic standards are lacking for BPDCN, complicating patient management.
• BPDCN shares morphologic and molecular features with other myeloid neoplasms like AML, MDS, and CMML, posing diagnostic challenges.

Observation:

• A patient presented with a prolonged diagnostic journey for BPDCN.
• Initial bone marrow biopsies were inconclusive, delaying diagnosis.
• A cutaneous biopsy revealed a CD45+/CD56+/CD4+/CD123+/CD33+/MPO- immunophenotype, leading to BPDCN confirmation via flow cytometry.

Findings:

• Molecular analysis identified ASXL-1, TET2, and SRSF2 mutations with a normal karyotype.
• Treatment with the CD123-targeting cytotoxin Tagraxofusp resulted in a significant initial response.
• This case underscores the diagnostic complexities associated with BPDCN, a rare and often misdiagnosed neoplasm.

Implications:

• Accurate immunophenotypic and molecular diagnostics are crucial for BPDCN identification.
• Tagraxofusp demonstrates potential as an effective therapeutic option for BPDCN.
• Improved diagnostic strategies and targeted therapies are needed for this rare hematologic malignancy.