TET2 mutations, myelodysplastic features, and a distinct immunoprofile characterize blastic plasmacytoid dendritic cell neoplasm in the bone marrow.
Distinguishing blastic plasmacytoid dendritic cell neoplasm (BPDCN) from acute myeloid leukemia (AML) is gaining increased importance because of emerging differences in therapeutic approaches, and this distinction can be problematic in bone marrow specimens. We identified retrospectively 16 patients with bone marrow involvement by BPDCN: 11 men and 5 women with a median age of 62.5 years (range, 19-86 years). Myelodysplastic changes were observed in five patients. Immunophenotypic analysis showed that the neoplastic cells were positive for CD4, CD123, TCL-1, and HLA-DR and were negative for CD3, CD8, CD13, CD19, CD34, and myeloperoxidase. Other antigens expressed by subsets of BPDCN cases included the following: CD56 (13/15; 81%), CD33 (7/10; 70%), CD7 (11/14; 69%), TdT (5/15; 33%), CD2 (5/11; 31%), CD117 (2/9; 22%), and CD5 (2/13; 15%). Conventional cytogenetic analysis showed chromosomal abnormalities in 6 of 13 (46%) cases analyzed, of which 3 cases had -13/13q-. Targeted next-generation sequencing performed on five BPDCN cases identified TET2 (ten eleven translocation 2) mutations and no other AML-associated mutations. In conclusion, BPDCN in the bone marrow has a characteristic immunoprofile (CD4+, CD56+, CD123+, and TCL-1+) and appears to be commonly associated with myelodysplastic features and a high frequency of TET2 mutations in the absence of other mutations commonly observed in AML.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas; Department of Pathology, King Saud University, Riyadh, Saudi Arabia.
Khaled
K
Alayed
Keyur P
KP
Patel
Sergej
S
Konoplev
Rajesh R
RR
Singh
Mark J
MJ
Routbort
Neelima
N
Reddy
Naveen
N
Pemmaraju
Liping
L
Zhang
Abdulaziz Al
AA
Shaikh
Tariq N
TN
Aladily
Nitin
N
Jain
Rajyalakshmi
R
Luthra
L Jeffrey
LJ
Medeiros
Joseph D
JD
Khoury
D000368:Aged; D000369:Aged, 80 and over; D015703:Antigens, CD / Q000032:analysis; D000951:Antigens, Neoplasm / Q000032:analysis; D001853:Bone Marrow / Q000473:pathology*; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000235:genetics*; D003713:Dendritic Cells / Q000737:chemistry / Q000473:pathology*; D003937:Diagnosis, Differential; D049308:Dioxygenases; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D016130:Immunophenotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis; D008228:Lymphoma, Non-Hodgkin / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D014411:Neoplastic Stem Cells / Q000737:chemistry / Q000473:pathology*; D017354:Point Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017384:Sequence Deletion; D014178:Translocation, Genetic; D055815:Young Adult
D015703:Antigens, CD; D000951:Antigens, Neoplasm; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D049308:Dioxygenases; C541081:TET2 protein, human