Baylor University Medical Center Proceedings October 2017 - 450

Blastic plasmacytoid dendritic cell neoplasm following
acquired erythropoietic protoporphyria
John R. Krause, MD, Laura Baugh, MD, Alicia Swink, MD, and Micah Burch, MD

A 56-year-old Texas rancher with a prior
diagnosis of acquired erythropoietic protoporphyria secondary to an underlying
myelodysplastic disorder developed an
uncommon tumor, blastic plasmacytoid
dendritic cell neoplasm (BPDCN). During
his initial disease, analysis revealed a
TET2 mutation, which is the most common mutation associated with BPDCN.
This article discusses this unusual hematopoietic neoplasm, the possible evolution
from erythropoietic protoporphyria, and
the underlying myelodysplastic process.

CASE REPORT
A 56-year-old Texas rancher was
diagnosed with erythropoietic protoporphyria secondary to an underlying
myelodysplastic disorder, refractory
anemia with ring sideroblasts, in Figure 1. The patient's bone marrow biopsy results: (a) hematoxylin and eosin, 100×; (b) CD4, 40×; (c) CD56,
2014 (1). His chromosome analysis 40×; and (d) TCL-1, 40×.
revealed no abnormalities, but a mutational analysis revealed
CKit was negative. A TET2 mutation was detected on sequenca TET2 mutation. His skin disease was well controlled with
ing. The patient was initiated on a Hyper CVAD regimen
the high-dose beta-carotene supplement Lumitene and sun
(cyclophosphamide, vincristine, doxorubicin, and dexamethasone). He developed severe disseminated intravascular coaguavoidance. The patient's blood counts were monitored regularly
lation, respiratory distress, and renal insuﬃciency but slowly
and remained within normal parameters.
recovered without serious morbidity. The plans are to continue
In January 2017, he presented to the emergency room with
his chemotherapy regimen with an eventual allogeneic bone
severe abdominal pain. He stated that he had also noted slowly enmarrow transplant.
larging lymph nodes in the prior 2 weeks. Physical exam revealed a
diﬀuse violaceous rash across his trunk and upper extremities with
diﬀuse adenopathy in his neck, axillae, and groin. Blood work
DISCUSSION
revealed an elevated white blood cell count of 250 × 109/L with
BPDCN is a rare malignant hematological neoplasm char70% blasts, a hemoglobin of 8.5 g/dL, a hematocrit of 24.7%,
acterized by the clonal population of immature plasmacytoid
and a platelet count of 134 × 109/L. Flow cytometry revealed a
population of cells positive for CD4, CD56, and CD123 conFrom the Division of Hematopathology, Department of Pathology (Krause, Baugh)
sistent with a blastic plasmacytoid dendritic cell neoplasm (BPand the Department of Hematology/Oncology (Swink, Burch), Baylor University
DCN). The diagnosis was conﬁrmed by bone marrow aspirate
Medical Center at Dallas and Baylor Sammons Cancer Center, Dallas, Texas.
and biopsy with appropriate immunostains (Figure 1).
Corresponding author: John R. Krause, MD, Division of Hematopathology, Baylor
The patient's karyotype was diploid, and an acute myeloid
University Medical Center at Dallas, 3500 Gaston Avenue, Dallas, TX 75246
leukemia ﬂuorescent in situ hybridization panel was normal.
(e-mail: John.Krause@BSWHealth.org).
450

Proc (Bayl Univ Med Cent) 2017;30(4):450-451

Table of Contents for the Digital Edition of Baylor University Medical Center Proceedings October 2017