Blastic plasmacytoid dendritic cell neoplasm (BPDCN): a rare entity

Abstract

SUMMARYBlastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive haematological malignancy in the elderly, with a high frequency of cutaneous and bone marrow involvement and poor prognosis. We report a case of BPDCN with classic presentation and discuss its treatment and the value of different investigation tools used in diagnosis and response assessment. BACKGROUND

Blastic plasmacytoid dendritic cell neoplasm with genetic mutations in multiple epigenetic modifiers: a case report

“…BPDCN is an exceedingly rare aggressive hematodermic neoplasm that usually occurs in elderly patients. 13 The tumor cells of BPDCN are often positive for CD4, CD56, CD43, CD7, CD68, CD2, and HLA-DR. 14 Recently, the genetic mutations associated with BPDCN have received increasing attention. 15 Previous studies showed that patients with BPDCN often have complex karyotypes and chromosomal aberrations, including abnormalities in chromosome regions 5q, 12p13, 13q21, and 6q23ter.…”

A very rare case of FLT3-D835 positive blastic plasmacytoid dendritic cell neoplasm

“…However, we like to highlight the fact that the patient we present had no such cytogenetic abnormalities. Gene expression profiling, whole genome sequencing and target sequencing allowed researchers to identify recurrent somatic mutations that include TET2, ASXL1, NPM1, NRAS, SF3B1, ZRSR2, CUX1 and EZH2; upregulated pathway mutations, such as nuclear factor κ-light-chain-enhancer of activated B cells (NF-κB); loss of cell cycle checkpoint inhibitors results in enhanced G1/S transmission, as observed in MYC rearrangements on 8q24 [ 15 , 25 - 28 ].…”

“…The clinical evolution was apparently favorable and the patient was discharged after 3 weeks. However, he did not later check back to the Hematology Clinic Discussions BPDCNs are extremely rare myeloid malignancies that mostly affect the elderly segment and involve skin tumor lesions, BM infiltration with cytopenias and extracutaneous presentation, with possible lymphadenopathy, hepatosplenomegaly and leukemic dissemination [1,15]. Singular or multiple skin lesions can be found in the majority of BPDCN cases (90%) with either nodular, papular or macular aspect and accompanying erythema or purpura [1,15,16].…”

Failure of non-vitamin K antagonist oral anticoagulants in preventing stroke in elderly patient: a case report of multiple strokes on standard of care treatment for atrial fibrillation

“…However, we like to highlight the fact that the patient we present had no such cytogenetic abnormalities. Gene expression profiling, whole genome sequencing and target sequencing allowed researchers to identify recurrent somatic mutations that include TET2, ASXL1, NPM1, NRAS, SF3B1, ZRSR2, CUX1 and EZH2; upregulated pathway mutations, such as nuclear factor κ-light-chain-enhancer of activated B cells (NF-κB); loss of cell cycle checkpoint inhibitors results in enhanced G1/S transmission, as observed in MYC rearrangements on 8q24 [15,[25][26][27][28].…”

“…In regards to treatment options, there is no current consensus for a standard option at the moment, owing to the low incidence of the disease and lack of prospective studies. Most experts agree though that ALL and non-Hodgkin lymphoma (NHL) based chemotherapy regimens, such as hyper-CVAD (hyperfractionated Cyclophosph-amide, Vincristine, Doxorubicin and Dexamethasone) or CHOP (Cyclophosph-amide, Doxorubicin, Vincristine and Dexamethasone) proved better than AML treatment options, with reported complete remission (CR) rates varying between 50-80% [9, 15,17,29]. However, the event free survival is usually short (average of 5 months) and longer remissions were reported only amongst patients who underwent allogenic stem cell transplant (ASCT) [29].…”