Blastic plasmacytoid dendritic cell neoplasm in children: Diagnostic features and clinical implications

Hematopathology Section, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Haematologica (Impact Factor: 5.81). 11/2010; 95(11):1873-9. DOI: 10.3324/haematol.2010.026179
Source: PubMed


Blastic plasmacytoid dendritic cell neoplasm is a rare malignancy that typically follows a highly aggressive clinical course in adults, whereas experience in children with this disease is very limited.
This retrospective study analyzed the pathological and clinical findings of nine cases of blastic plasmacytoid dendritic cell neoplasm presenting in patients under the age of 18 years who were reviewed at our institution. We also identified 20 well-documented additional pediatric cases in the literature.
In the combined analysis, the overall survival rate among the 25 patients with available follow-up, all having received chemotherapy, was 72% (follow-up ranging from 9 months to 13 years, with a median of 30 months). The event-free survival rate was 64%. Nine patients were alive 5 years after the original diagnosis, although only three of them had undergone hematopoietic stem cell transplantation--one in first complete remission and two in second remission. Of the seven patients who lacked cutaneous disease at presentation, 100% survived, including five who were alive more than 5 years after diagnosis, although only two had undergone stem cell transplantation. Among the 18 patients who presented with cutaneous disease and for whom follow-up data were available, only 11 survived (61%). Detailed immunophenotypic characterization and clinical features of all cases are presented. Unexpectedly, three of four cases of blastic plasmacytoid dendritic cell neoplasm tested showed focal positivity for S-100. S-100 was negative in 28 cases of acute myeloid leukemia evaluated for this marker.
In contrast to adult cases, in which long-term survival depends on stem cell transplantation in first complete remission, blastic plasmacytoid dendritic cell neoplasms in children are clinically less aggressive. Treatment with high-risk acute lymphoblastic leukemia-type chemotherapy appears to be effective, and stem cell transplantation may be reserved for children who relapse and achieve a second remission. Outcomes were more favorable in cases that lacked cutaneous disease at presentation, although a comparison of cutaneous and non-cutaneous cases might be confounded by differences in treatment regimens. Focal expression of S-100 may be seen in concert with other markers of plasmacytoid dendritic cells.

Download full-text


Available from: Elaine S Jaffe,
  • Source
    • "Although patients could achieve complete remission by initial systemic chemotherapy, they frequently relapse, resulting in the median overall survival of around 1 year (Feuillard et al., 2002; Reimer et al., 2003; Petrella et al., 2005; Chen et al., 2011). BPDCN generally occurs in the elderly, with the median age of affected patients being in the sixth decade of life (Garnache-Ottou et al., 2007), although a few pediatric cases, including an infant case, have also been reported (Hu et al., 2007; Jegalian et al., 2010). Neoplastic cells in BPDCN are now considered to be derived from the plasmacytoid dendritic cell and are characterized by the coexpression of CD4 and CD56 without any lineage-specific markers other than dendritic cell antigen-2 (BDCA-2, CD303) and interleukin-3 receptor a chain (CD123), which are markers for plasmacytoid dendritic cells (Garnache-Ottou et al., 2007). "
    [Show abstract] [Hide abstract]
    ABSTRACT: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a subtype of acute myeloid leukemia, affecting mainly the elderly. It is thought to be derived from plasmacytoid dendritic cell precursors, which frequently present as cutaneous lesions. We have made a detailed analysis of an infant with BPDCN, who manifested with hemophagocytic lymphohistiocytosis. The peripheral blood leukocytes revealed the t(2;17;8)(p23;q23;p23) translocation and a CLTC-ALK fusion gene, which have never been reported in BPDCN or in any myeloid malignancies thus far. Neonatal blood spots on the patient's Guthrie card were analyzed for the presence of the CLTC-ALK fusion gene, identifying the in utero origin of the leukemic cell. Although the leukemic cells were positive for CD4, CD56, CD123, and CD303, indicating a plasmacytoid dendritic cell phenotype, detailed analysis of the lineage distribution of CLTC-ALK revealed that part of monocytes, neutrophils, and T cells possessed the fusion gene and were involved in the leukemic clone. These results indicated that leukemic cells with CLTC-ALK originated in a multipotent hematopoietic progenitor in utero. This is the first report of the CLTC-ALK fusion gene being associated with a myeloid malignancy, which may give us an important clue to the origin of this rare neoplasm. © 2013 Wiley Periodicals, Inc.
    Genes Chromosomes and Cancer 01/2014; 53(1). DOI:10.1002/gcc.22119 · 4.04 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Skin immune surveillance is granted by a complex contingent of sentinel innate immune cells with antigen-presenting function. The latter include Langerhans cells (LCs), multiple subsets of dermal dendritic cells (DDCs), and dermal macrophages (DMs). As for other peripheral nonlymphoid tissues, the microenvironment of the normal skin is lacking plasmacytoid dendritic cells (PDCs), a circulating DCs subset that mainly populates primary and secondary lymphoid organs. PDCs accumulation in the skin is observed in different cutaneous inflammatory disorders, including autoimmunity and viral infection. This review will summarize current knowledge on the biology of skin DCs and will highlight the functional role of PDCs in the complex microenvironment of well-characterized cutaneous disease models.
    03/2012; 2(1). DOI:10.1007/s13671-012-0033-7

  • Acta oncologica (Stockholm, Sweden) 08/2011; 51(1):139-41. DOI:10.3109/0284186X.2011.602110 · 3.00 Impact Factor
Show more