2381/42950
Eleni Ladikou
Eleni
Ladikou
Barbara Ottolini
Barbara
Ottolini
Nadia Nawaz
Nadia
Nawaz
Rebecca L. Allchin
Rebecca L.
Allchin
Daniel Payne
Daniel
Payne
Hebah Ali
Hebah
Ali
Teresa Marafioti
Teresa
Marafioti
Jacqui Shaw
Jacqui
Shaw
Matthew J. Ahearne
Matthew J.
Ahearne
Simon D. Wagner
Simon D.
Wagner
Clonal evolution in the transition from cutaneous disease to acute leukemia suggested by liquid biopsy in blastic plasmacytoid dendritic cell neoplasm.
University of Leicester
2018
IR content
2018-09-26 10:35:09
Journal contribution
https://figshare.le.ac.uk/articles/journal_contribution/Clonal_evolution_in_the_transition_from_cutaneous_disease_to_acute_leukemia_suggested_by_liquid_biopsy_in_blastic_plasmacytoid_dendritic_cell_neoplasm_/10206830
We have detected novel mutations in TET2 and RHOA
genes in a case of blastic plasmacytoid dendritic cell neoplasm
(BPDCN). Analysis of peripheral blood mononuclear
cell (PBMNC) samples at two timepoints allowed
inference of subclonal variation associated with the evolution
of acute leukemia from cutaneous disease.
Blastic plasmacytoid dendritic cell neoplasm is a rare
disease, which is now regarded as myeloid-related.1
There is a male preponderance (M:F 3:1), and patients
typically present with cutaneous lesions, which might
include nodules, patch-plaques or bruise-like areas. Bone
marrow (60-90%) and lymph nodes (40-50%) might also
be involved, while low-level peripheral blood involvement
is a recognized feature of the disease.2,3 While some
cases remain cutaneous, others develop acute myeloid
leukemia, which is often metachronous.3 Prognosis is
poor with a median overall survival of 12-14 months,
although combination chemotherapy followed by allogeneic
stem cell transplantation appears to offer the possibility
of cure for some patients.4