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

Abstract

The online version of this article has a Supplementary Appendix. BackgroundBlastic 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. Design and MethodsThis retrospective study analyzed the pathological and clinical findings of nine cases of blastic plasmactyoid 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. ResultsIn the combined analysis, the overall survival rate among the 25 patients with available followup, 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. ConclusionsIn 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.Key words: blastic plasmacytoid dendritic cell neoplasm, CD4 + /CD56 + hematodermic neoplasm, pediatric, acute myeloid leukemia, acute lymphoblastic leukemia, stem cell transplant, S-100, immunophenotyping, dendritic cells.Citation: Jegalian AG, Buxbaum NP, Facchetti F, Raffeld M, Pittaluga S, Wayne AS, and Jaffe ES. Blastic plasmacytoid dendritic cell neoplasm in children: diagnostic features and clinical implications. Haematologica 2010;95(11):1873-1879 doi:10.3324/haematol.2010

Blastic plasmacytoid dendritic cell neoplasm with leukemic presentation: an Italian multicenter study

“…9 BPDCN in children is characterized by less frequent cutaneous involvement than in adults and shows a significant response to intensive ALL-type chemotherapy, allowing patients to reach complete remission, with a better prognosis including long-term survival; all these features suggest that childhood BPDCN might represent a separate subset of the disease. 15,16 An accurate diagnosis of BPDCN is essential in order to provide treatment promptly, especially considering that the initial clinical presentation is often indolent. BPDCN may be suspected from a set of converging features from the clinical presentation and histological findings, but overlaps with other hematologic neoplasms are considerable and the final diagnosis relies on a compatible immunophenotype.…”

“…9,22,[27][28][29][30][31][32][33][34] The response rates and survival of the patients in the main previous studies are summarized in Table 4, in which we report the largest published series on adult and pediatric populations with at least five cases of BPDCN. 9,16,22,[29][30][31] It emerges that BPDCN is quite sensitive to chemotherapy initially, with complete response rates ranging from 53% to 89%. However, the prognosis is poor, even for patients reaching complete remission.…”

Cytomorphological features of blastic plasmacytoid dendritic cell neoplasm on FNA and cerebrospinal fluid cytology: A review of 6 cases

“…Although BPDCN is classically a disease of the elderly, cases involving children have been reported. 24 In this scenario and also within the context of an elderly individual presenting with an unclassifiable B-cell lymphoma with cytologic features intermediate between DLBCL and Burkitt lymphoma, immunophenotyping is essential for the diagnosis, as well as FISH analysis for MYC translocation .1 In the majority of cases of metastatic carcinoma, there is a known primary malignancy. Cutaneous metastases of an unknown primary tumor presenting as isolated cells or loose clusters, such as gastric or breast carcinoma, are potential differential diagnoses.…”

Case study interpretation—New Orleans: Case 5

“…(1). BPDCN is typically a disease of elderly patients, although a few pediatric cases have been reported (2)(3)(4). A subset of patients have a preexisting myeloid neoplasm such as myelodysplasia, similar to this case (4).…”