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Clonal evolution in the transition from cutaneous disease to acute leukemia suggested by liquid biopsy in blastic plasmacytoid dendritic cell neoplasm.
journal contribution
posted on 2018-09-26, 10:35 authored by Eleni Ladikou, Barbara Ottolini, Nadia Nawaz, Rebecca L. Allchin, Daniel Payne, Hebah Ali, Teresa Marafioti, Jacqui Shaw, Matthew J. Ahearne, Simon D. WagnerWe 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
Funding
The work was supported by grants from the Leicester Haematology Research Fund.
History
Citation
Haematologica, 2018, 103 (5), pp. e196-e199Author affiliation
/Organisation/COLLEGE OF LIFE SCIENCES/School of Medicine/Cancer Research CentreVersion
- VoR (Version of Record)