Blastic plasmacytoid dendritic cell neoplasm in children: A review of two cases

Abstract

Abstract. Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a newly characterized, rare malignant tumor of the skin and hematopoietic system. BPDCN occurs mainly in the elderly, whereas it is rarer among children, and has variable clinical manifestations. Optimal chemotherapeutic regimens for the treatment of BPDCN have not yet been determined and this tumor has a poor prognosis. In this study, two pediatric cases of BPDCN, including a 7-year-old female and a 9-year-old male patient, diagnosed at the Xiangya Hospital of Central South University over the past 2 years, were retrospectively reviewed. Both cases exhibited multiple organ involvement, although the clinical manifestations differed; they were diagnosed with BPDCN based on the clinical manifestations, pathological and immunohistochemical findings, which included positivity for CD4, CD56 and CD123. A high-risk acute lymphocytic leukemia (ALL) chemotherapy regimen was administered to both patients. The patient in the first case achieved a complete remission, but unfortunately her parents refused follow-up treatment and she succumbed to the disease 9 months after the initial diagnosis. The second patient was treated for a total of three courses with a chemotherapy regimen including daunorubicin, cytarabine and etoposide, followed by two courses of the high-risk ALL chemotherapy regimen; unfortunately, a remission was not achieved and the patient was scheduled to receive hematopoietic stem cell transplantation. Thus, not all pediatric BPDCN patients may be able to achieve complete remission following chemotherapy with the high-risk ALL regimen, and other treatment options must be investigated in the future.

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi‐allelic missense mutations in DDX41

“…At the moment there is insufficient data to correlate karyotype and somatic mutations with prognosis. In the pediatric cohort the only significant prognostic factor is non‐cutaneous BPDCN (20%–25% of all cases), which is associated with a superior outcome at 18 months follow‐up when compared to patients with cutaneous involvement …”

“…,19 Cheah et al have speculated on genotype-phenotype correlations regarding germline DDX41 mutations, more specifically that point mutations in the helicase C domain cause earlier onset disease, and in addition other phenotypes, whereas frameshift mutations, which are by far most prevalent, predisposes to myeloid disease at the same age as sporadic disease. Supporting InformationTable 1shows genotype and phenotype of all reported confirmed carriers of DDX41 mutations divided into LOF mutations and missense mutations.…”

A Case of Blastic Plasmacytoid Dendritic Cell Neoplasm With Unusual Presentation

“…Extracutaneous involvement often occurs in the lymph nodes, peripheral blood, bone marrow, skeleton, gastrointestinal tract, central nervous system, lungs, mediastinum, and pancreas [7]. Our patient, a young male, presented with testicular involvement and without any cutaneous manifestation, which is extremely rare [8]. Two months later the patient presented with leukemialike symptoms with bone marrow involvement.…”

Primary cutaneous blastic plasmacytoid dendritic cell neoplasm in a child: A challenging diagnosis and management

“…In children, HSCT is reserved for relapses. 1,7,9 Better understanding of the pathophysiological mechanisms of BPDCN has led to newer therapies. Tagraxofusp (SL-401), a CD123directed cytotoxin, was recently approved for the treatment of BPDCN in adults and children 2 years and older but is not widely available.…”