Nuri Yigit 1,2 , Luisa Fernanda Suarez 1 , Lisa Giulino Roth 3 , Attilio Orazi 1 , Wayne Tam 1 Show Affiliations »
Abstract
OBJECTIVES: We report a rare case of CD4- cutaneous blastic plasmacytoid dendritic cell neoplasm (BPDCN) with a novel PBRM1 mutation. METHODS: An 11-year-old girl presented with an enlarged mass on her left arm and underwent an incisional biopsy. RESULTS: Histopathologic examination and immunohistochemistry studies showed a monotonous proliferation of blasts that were CD4-, CD56+, and CD123+. There was no evidence of leukemic dissemination. Next-generation sequencing detected PBRM1 and CIC gene abnormalities. We confirmed and validated a novel PBRM1 mutation by conventional polymerase chain reaction and Sanger sequencing. CONCLUSIONS: CD4- variant of BPDCN may be mistaken for myeloid sarcoma or extramedullary lymphoblastic leukemia/lymphoma because of their overlapping morphologic and immunophenotypic features; thus, a careful clinicopathologic evaluation is essential to reach the correct diagnosis. PBRM1 mutation seems to be a driver event in this case. Our study underscores the importance of alterations in chromatin remodeling in the pathogenesis of BPDCN. © American Society for Clinical Pathology, 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com
OBJECTIVES: We report a rare case of CD4- cutaneous blastic plasmacytoid dendritic cell neoplasm (BPDCN) with a novel PBRM1 mutation. METHODS: An 11-year-old girl presented with an enlarged mass on her left arm and underwent an incisional biopsy. RESULTS: Histopathologic examination and immunohistochemistry studies showed a monotonous proliferation of blasts that were CD4-, CD56+, and CD123+. There was no evidence of leukemic dissemination. Next-generation sequencing detected PBRM1 and CIC gene abnormalities. We confirmed and validated a novel PBRM1 mutation by conventional polymerase chain reaction and Sanger sequencing. CONCLUSIONS: CD4- variant of BPDCN may be mistaken for myeloid sarcoma or extramedullary lymphoblastic leukemia/lymphoma because of their overlapping morphologic and immunophenotypic features; thus, a careful clinicopathologic evaluation is essential to reach the correct diagnosis. PBRM1 mutation seems to be a driver event in this case. Our study underscores the importance of alterations in chromatin remodeling in the pathogenesis of BPDCN. © American Society for Clinical Pathology, 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com
Entities: Chemical
Keywords:
Acute leukemia; Blastic plasmacytoid dendritic cell neoplasm; Neoplasms in childhood; PBRM1 gene mutation
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Year: 2017
PMID： 28419186 DOI： 10.1093/ajcp/aqx012
Source DB: PubMed Journal: Am J Clin Pathol ISSN： 0002-9173 Impact factor: 2.493